Screening in normal pregnancy

There was a time, now long gone, when pregnancy was a natural process that did not involve doctors and hospitals, ultrasounds and blood tests. Modern pregnancy is a technical affair, partly because we have discovered ways to keep the mother and baby safer during pregnancy and childbirth, and partly because we think we can control pregnancy to make sure we get the outcome we want. (It would be cynical to suggest it has anything to do with the fact that an obstetrician can be sued for malpractice up to 20 years after a birth.)

It is customary and right to want what is best for our offspring and to hope for a healthy child to be born. Love for the baby will usually mean that a mother will do her best to follow dietary and lifestyle advice to maximize her own health and the health of the child she is carrying. And by embracing modern medicine, we increase the likelihood of the best possible outcome through routine tests that aim to make sure we do all we can to keep mother and baby well. This is positive.

However, we now have an antenatal process that involves an increasing number of tests that not only check that the baby is healthy, but also that it is normal. These additional tests are slowly being adopted as part of routine antenatal care in industrialized countries, and there is no sign of the trend slowing down. This has occurred with virtually no community discussion as to whether this is the way we want pregnancy to be managed. Sometimes these tests for normality are done without the mother even realizing she is undergoing that kind of test. How can this be done, and what is the outcome of this change in direction?

Before we examine some of these more contentious issues, it is worth understanding the great benefits of good antenatal care in industrialized nations, and the nature of birth abnormalities. When we compare pregnancy outcomes for both mother and baby with those of developing nations, we soon realize that any improvement in obstetric care is a great blessing for which we should be truly thankful.

It can come as a shock to realize that, even today, pregnancy is not a risk-free enterprise. Over her lifetime, the risk of a woman dying as a result of pregnancy or childbirth is about 1 in 6 in the poorest parts of the world, compared to about 1 in 30,000 in northern Europe. Such a discrepancy poses a huge challenge to the United Nations in meeting the fifth Millennium Development Goal of reducing maternal mortality by 75% between 1990 and 2015.[1]

The global maternal mortality rate (MMR) decreased from 422 per 100,000 live births in 1980 to 320 in 1990 and 251 in 2008. More than 50% of all maternal deaths occurred in only 6 countries in 2008 (India, Nigeria, Pakistan, Afghanistan, Ethiopia and the Democratic Republic of the Congo).[2] Most deaths occurred around the time of the delivery.

However, this apparent improvement in MMR looks very different if we look at countries individually. In 2008, MMR was as follows:[3]

Country

MMR in 2008

(per 100,000

live births)

Country

MMR in 2008

(per 100,000

live births)

Australia

5[4]

France

10

Sweden

5

Singapore

16

Ireland

6

United States

17

Canada

7

Saudi Arabia

28

Germany

7

Ukraine

30

Japan

7

China

40

New Zealand

8

Fiji

85

United Kingdom

8

Afghanistan

1575

Denmark

9

Congenital abnormalities (birth defects)

There have always been children born with abnormalities. Research suggests that 2%-4% of all children born worldwide have major congenital abnormalities. In Australia, not all conditions at birth are reported and recorded, but national reports suggest that an average of 1.6% of all children born in Australia have major congenital abnormalities.[5] Common abnormalities include hypospadias (an abnormality of the penis where the urethra opens on the underside), trisomy 21 (Down syndrome) and neural tube defects such as spina bifida.[6] A higher rate of congenital anomalies has been reported for births among Indigenous women compared to non-Indigenous women (356 per 10,000 births compared to 308 per 10,000 births).[7] These numbers are not static. In about 60% of cases, the cause of the congenital anomaly is unknown and is probably multifactorial.[8]

Data is being collected more carefully now as governments try to reduce the incidence of newborns affected by congenital abnormalities. Some initiatives involve prevention, such as encouraging women who are attempting to get pregnant to take folic acid tablets to prevent neural tube defects and congenital heart defects, and introducing the mandatory fortification of bread flour with folic acid. These are welcome interventions.

But in cases where we have no preventative strategy, the focus is now on prenatal diagnosis; the trouble is that we can now screen for more problems than there are treatments. This has led to a much more troubling outcome where abortion has become the dominant ‘solution’ for these problems. Screening has now reached the point where even if we have do have a cure, it is still not enough; over 90% of pregnancies found to have abnormalities present proceed to termination. It seems as if the whole modern reproductive industry is aimed at making sure that only normal babies come to term.

What are we to do? Those couples who value human life from fertilization and who do not want to abort their child will need to become familiar with standard screening tests in pregnancy in order to decide which ones are desirable (to maximize health in the mother and baby) and which ones are not. If they are not prepared to terminate a pregnancy, they will have to ask whether there is any point in having tests to identify problems that can only be managed by termination.

Let’s look first at the standard antenatal tests and their purpose, before moving on to discuss genetic testing and screening. (This chapter is not intended to be a comprehensive guide to medical care in pregnancy.)

What are the standard tests for a normal pregnancy?

The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG) has a standard protocol for antenatal testing.[9] The initial tests are recommended before the woman becomes pregnant, because some intervention is best done at that stage. All of these recommended tests aim to improve outcomes for the mother and baby.

1. Pre-pregnancy clinical assessment

a. Rubella (German measles) immunity status

Rubella is a highly contagious, though usually mild, viral disease. Those affected may have a transient rash and enlarged lymph nodes (and occasionally more serious problems), but half the people affected have no symptoms at all; it is hard to know who has had it. Consequently, it is necessary to confirm previous infection by looking for protective levels of antibodies in the blood.[10] Although it is a mild illness when it occurs in adults, if a woman contracts a rubella infection in the first 8-10 weeks of pregnancy, it can infect the baby, resulting in congenital rubella syndrome (CRS) in 90% of affected pregnancies.[11] CRS causes multiple defects in the baby, including intellectual disabilities, cataracts, deafness, heart abnormalities, restricted growth and inflammatory lesions of the brain, liver, lungs and bone marrow. Infection of the baby after 8 weeks of pregnancy commonly results in deafness and progressive blindness.[12] It is rare for the baby to be damaged if the infection occurs after 10 weeks of pregnancy, although it has been reported after 20 weeks of gestation.[13]

There is no treatment for the disease. Prevention is the best strategy, and since the rubella vaccine was introduced, rubella infection (including congenital rubella) has fallen by 99.6%.[14] It is recommended that women of child-bearing age who are found to have no evidence of previous infection should be vaccinated (and avoid conception for one month after the injection), and be checked 8 weeks after vaccination to make sure they are covered. All women are advised to check their rubella levels before every planned pregnancy, regardless of any previous results.[15] Even when a pregnant woman has been vaccinated, it is still best to avoid people who have had rubella or been exposed to it, for 6 weeks from the time of the exposure.[16]

b. Varicella (chicken pox) immunity status

This test is recommended if the woman’s immunity status is unknown and she does not know if she has had chicken pox. Varicella is another highly contagious viral infection. Once you’ve had it, it may reactivate later as herpes zoster (shingles). Varicella is usually a mild childhood disease, but in adults or in any person with lowered immunity it becomes a severe disease and may even be fatal. Varicella infection in pregnancy may result in congenital varicella syndrome, which can cause skin scarring, limb defects, eye abnormalities and malformations of the baby’s neurological system. Unlike rubella (which is a risk only in the first trimester), there is a greater risk of the baby being damaged if maternal infection occurs in the second trimester, while intrauterine exposure during the third trimester poses the greatest risk of developing shingles in infancy.[17] Because of these serious potential dangers for the baby, a non-immune mother should be vaccinated before pregnancy to avoid infection during pregnancy.[18]

c. Cervical (Pap) smear

The cervical or Pap smear—named after Dr George Papanicolaou—is used to check for changes in the cervix (the neck of the womb) at the top of the vagina.[19] This is done to look for abnormalities that might develop into cervical cancer in the future. It is recommended that all pregnant women be offered a cervical smear if they have not had one performed within the previous two years (for women with no history of abnormal changes), or within the time specified for follow up (for women who have had abnormal changes in the past). If abnormal changes are found at screening, further tests will be done to see if treatment is needed.[20]

2. The first antenatal visit in pregnancy

If the tests listed above have not been done just before the pregnancy, they should be done at the first antenatal visit (although vaccination should be postponed until after delivery if women are found to have had no previous exposure.)[21]

The following investigations are recommended as screening tests, to see if there are any relevant medical problems the doctor needs to know about to keep the mother and baby safe. By detecting disease before it causes symptoms, treatment can be started early to avoid, or minimize, complications for either mother or child. The doctor will take a detailed history and examine the mother at this time, and extra tests may be considered depending on the woman’s medical history, her family history and whether she has been exposed to other infections that could cause harm to the baby. Most of the extra tests are blood tests and all are recommended to make the pregnancy safer.

In its principles of screening, the World Health Organization (WHO) expects that tests used for screening will: detect a disease when it is still asymptomatic; have a high sensitivity and specificity (few false positives and false negatives);[22] have an available treatment for the condition and evidence of an improved outcome with treatment; have acceptability among the general population; and be cost efficient.[23] The tests in this section all achieve these screening goals.

a. Full blood count

A full blood count (FBC)[24] is a very common test in medicine and it assesses the general health of the mother. An FBC not only tests for abnormalities of the blood, but it can also give an indication of disease present in other organs. It is repeated at 28 weeks of pregnancy. A full blood count includes the following:

  • Measurement of haemoglobin (which carries oxygen) in the blood. If anaemia is detected, further investigation is warranted to discover the cause. Anaemia can make women tired and faint, and can put them at increased risk of infection and maternal mortality. Iron deficiency anaemia in pregnancyis a risk factor for preterm delivery and subsequent low birthweight, and possibly for inferior neonatal health. (Iron supplementation for pregnant women who are not iron deficient is controversial.)[25]
  • Close analysis of red blood cells; this also helps to diagnose the cause of anaemia, if it is present.
  • Measurement of white blood cells (WBCs). These are an important part of the body’s immune system, which fights infection.
  • Measurement of platelets in the blood. Platelets are part of the blood clotting system of the body.[26]

b. Blood group and antibody screen

This screening determines the mother’s blood group and detects the presence of antibodies. This is done at the first visit for all women, and then again at 28 weeks for Rhesus (Rh) negative women only, to check for ‘public antibodies’.[27] It is used, in particular, to identify those that have potential for causing a reaction in the baby’s blood at birth, known as haemolytic disease of the newborn (HDN).[28] Commonly, the mother is stimulated to produce these antibodies through blood transfusion, bleeding associated with delivery, trauma, miscarriage, induced abortion, ectopic pregnancy or invasive obstetric procedures. Any fetal red blood cells that cross the placenta into the mother’s bloodstream and are incompatible with the maternal blood group have the potential to stimulate the mother to produce antibodies against the baby’s red blood cells. These antibodies can then cross the placenta into the baby’s bloodstream and begin to attack the baby’s red blood cells, which can result in the fetus becoming anaemic, with potentially disastrous consequences such as neurologic injury or death. It is most commonly an issue of incompatibility between the (Rh negative) mother’s blood and the (Rh positive) baby’s. In order to prevent the development of these destructive antibodies in the mother, Rh-negative women may require the administration of RhD-Ig antibodies both during pregnancy and after delivery.[29]

c. Syphilis serology

Syphilis is an infectious disease caused by the bacterium treponema pallidum. It is a treatable disease primarily transmitted through direct sexual contact, although it can also be transmitted from mother to child via the placenta during pregnancy and during childbirth. Pregnant women with untreated early syphilis can transmit the infection to their baby, resulting in miscarriage, stillbirth (25% of pregnancies), neonatal death (14% of pregnancies), premature birth, low birth weight or congenitally infected infants.[30]

All women should be tested once for syphilis during the first trimester of each pregnancy. Women at risk of acquiring (or reacquiring) syphilis should have a further test in the third trimester (preferably at 28-30 weeks) and at delivery. Untreated maternal infection in the first trimester is more likely to affect the baby. The infected mother can be treated with antibiotics appropriate to the stage of syphilis infection and thus avoid effects on the baby.[31]

d. Midstream urine (MSU)

Due to the body changes that occur during pregnancy, up to 10% of pregnant women develop bacteria in the urine. This can be confirmed in urine specimens. The primary complication of this condition is cystitis (bladder infection). If left untreated, this may cause an infection of the kidneys (pyelonephritis) in 25%-30% of cases.[32] There is an association between pyelonephritis and low birth weight, prematurity and death in the baby.[33] Antibiotic treatment can significantly reduce the risk of these complications.[34]

e. Human immunodeficiency virus (HIV)

The human immunodeficiency virus (HIV) causes acquired immune deficiency syndrome (AIDS) by infecting and damaging helper T cells, which are an important part of the body’s defences against infection. Internationally, HIV/AIDS remains a leading cause of illness and death in pregnancy. Mother-to-child transmission is the most common cause of HIV infection in children worldwide. Infection can occur during pregnancy, during labour and delivery, and during breastfeeding, and it is almost entirely preventable. Treatment of the mother through medication (antiretroviral therapy), delivery by caesarean section, and the avoidance of breastfeeding reduces the rate of transmission to the child from around up to 45% to less than 5%.[35]

The Centers for Disease Control and Prevention (CDC) in the United States recommend that HIV testing be part of the routine screening for all pregnant women because reproductive-aged women make up the fastest-growing group with new HIV infections, usually acquired through sexual contact. The recommendation is for testing at the beginning of pregnancy and again at 28 weeks, regardless of perceived risk.[36] Screening for HIV is not routine in all Australian states, despite the recommendations of both the national HIV testing policy and RANZCOG that all pregnant women should be offered HIV screening at the first antenatal visit.[37] Informed consent ideally should be obtained from the woman prior to appropriate counselling and testing.[38]

f. Hepatitis B serology

Hepatitis B (HBV) is also a blood-borne viral infection, and is symptomatic in 30%-50% of adults.[39] There are more than 350 million HBV carriers worldwide, of whom one million die annually from liver disease.[40] Mothers with chronic infection (carriers) have higher rates of preterm deliveries, premature rupture of membranes, placental abruption, labour induction and caesarean deliveries, and there is a greater risk of death, congenital malformations and low birth weight in their newborns.[41]

It is critical to identify HBV carriers because of the opportunity to provide almost complete protection against infection to the baby. Transmission of HBV from infected mother to newborn usually occurs at, or around, the time of birth. Around 90% of babies infected as newborns, although usually remaining asymptomatic, develop chronic HBV infection and are capable of transmitting the disease for years, or for life. Significantly, more than 25% of these infants develop chronic active hepatitis B and up to 25% die prematurely. Prevention of transmission from a carrier mother to her child can be achieved by adjusting labour management (no fetal scalp electrode, no fetal blood sampling), routinely giving newborns immunoglobulin as soon as possible after birth, and beginning a course of vaccination.[42]

g. Hepatitis C serology

As with hepatitis B infection, infection with hepatitis C virus (HCV) has implications for both mother’s and baby’s health. Chronic infection can result in the development of liver cirrhosis, or liver cancer, later in life.[43] The risk of an infected mother passing on hepatitis C to her baby during pregnancy and birth is related to the amount of virus in her blood. At present no drug therapies can be recommended to reduce the risk of mother-to-child transmission. Unlike HBV infection, no specific intervention at the time of delivery has been shown to reduce the risk of transmission to the baby.[44]

Advice varies regarding whether all pregnant women should have hepatitis C screening in pregnancy.[45]

h. Routine antenatal ultrasound

The place of ultrasound is controversial.[46] In Australia, it is recommended that all women be offered an obstetric ultrasound prior to 20 weeks in order to facilitate a safe delivery. This replaces the x-ray that used to be done (x-rays can be dangerous for the unborn).

During the first trimester—defined as the first 13 weeks of pregnancy—an ultrasound is often performed between 8-11 weeks gestation to check how many weeks pregnant the woman is, usually measuring crown-rump length (CRL). It is also used to check for placental position, multiple pregnancy and the baby’s growth and development.[47] The main aim of these observations is to make sure that the baby will be born without problems and, as such, it is a reasonable thing to do (for example, sometimes there may be reason why a caesarean is safer than a vaginal delivery).

Note that we are discussing routine antenatal screening here, which should be done when everything appears to be normal. If a specific problem is identified, the benefit versus risk ratio changes, and it may be safest for extra ultrasounds to be done to check that the baby is safe.

However, in their guidelines on routine ultrasound in low-risk pregnancy, the American College of Obstetricians and Gynecologists (ACOG) concludes:

In a population of women with low-risk pregnancies, neither a reduction in perinatal morbidity (harm to babies around the time of birth) and mortality (death) nor a lower rate of unnecessary interventions can be expected from routine diagnostic ultrasound. Thus ultrasound should be performed for specific indications in low-risk pregnancy.[48]

Current research suggests that screening by ultrasound in early pregnancy improves the early detection of multiple pregnancies and improves estimates of how many weeks pregnant the woman is, but does not reduce adverse outcomes for babies.[49]

Other ways in which ultrasound is used are documented below.

i. Gestational diabetes (GDM)

It is recommended that all pregnant women be screened for gestational diabetes (diabetes of pregnancy).[50] Blood screening is generally performed at 26-28 weeks of gestation, or at any stage if symptoms develop. The Glucose Challenge Test (GCT) is performed, followed by the Fasting Glucose Tolerance Test if the GCT is abnormal.[51]

Primary outcomes of GDM include serious perinatal complications (such as death, shoulder dystocia, bone fracture and nerve palsy), admission to the neonatal nursery, jaundice requiring phototherapy, induction of labour, caesarean birth, and maternal anxiety and depression. Treatment of GDM reduces serious perinatal morbidity and may also improve the woman’s health-related quality of life.[52]

j. Group B streptococcal disease (GBS)

GBS bacteria are recognized as a major cause of serious newborn infection. About one in 2000 newborn babies have GBS bacterial infections, usually presenting at birth or within 24-48 hours of birth. The baby contracts the infection from the asymptomatic mother during labour and delivery.[53] It is recommended that prenatal screening be performed at 35-37 weeks of gestation.[54] Preventative antibiotics are commonly given to ‘at risk’ women during labour to reduce the incidence of this disease.[55]

k. Other tests

Other tests that can be considered for women who have risk factors, but which are not included in routine screening, include:

  • testing for vitamin D deficiency
  • screening for abnormalities of haemoglobin, such as thalassaemia
  • checking blood for exposure to cytomegalovirus (CMV) and toxoplasmosis viral infections
  • checking for chlamydia infection
  • testing thyroid function.

Summary

All the tests listed above are recommended in a normal pregnancy to maximize health outcomes for mother and child. As a result of these tests:

  • treating the infection can prevent intrauterine infection (syphilis)
  • immunization can avoid the infection (rubella)
  • treating the infection can prevent complications (urinary tract infection)
  • treating the deficit can prevent complications (anaemia)
  • changing aspects of care can avoid infection of the baby (HBV).

There are no ethical problems with this approach. It is an appropriate use of medical knowledge to identify and manage any health problems before they have a negative impact on the pregnancy. These screening tests meet the requirements of the WHO guidelines.

Prenatal genetic testing

In a world where we are used to being in control of all areas of our lives, there have been moves to influence pregnancy outcomes to make sure we have perfect babies. But there’s a problem: there is no test that guarantees a healthy, normal baby.

Screening during pregnancy is done to assess the risk factors associated with having a baby with a chromosomal (genetic) or structural abnormality. Particularly if a woman is over 35 years old or has a family history of a genetic disease (i.e. one that is passed down through families), she may seek or be offered prenatal genetic testing for the baby.

Prenatal screening early in the pregnancy can sometimes be presented to women as routine, rather than as a choice (which in fact it is). Some doctors may not explain the screening fully because they feel uncomfortable asking women what they will do if the baby has an abnormality (e.g. “Do you want to terminate the pregnancy?”), while many doctors think early testing is beneficial as it allows couples with affected pregnancies to have more time to decide what to do. Research has shown, though, that many couples are not aware of the purpose for screening and its limitations, and so are unprepared when they receive bad news about the baby.[56]

All screening tests have limitations. They do not definitely show whether a baby will have a problem, nor do they identify every pregnancy that does have a problem (i.e. they can give a false negative test result); and they may identify an unaffected pregnancy as being at risk when in fact there isn’t a problem (i.e. they can give a false positive test result).[57] Most babies assessed as having an increased risk will be normal and healthy.[58] These are not precise tests.

Another concern with this testing is that we can test for a lot more problems than we have treatments, and often the only way to ‘solve’ the problem of an abnormality is termination of the pregnancy.[59] Genetic testing should always be preceded by counselling; this allows the parents to decide which tests, if any, are best for mother and child. Different tests are done depending on the stage of the pregnancy.

I do not want to imply that all women walk ignorantly into prenatal screening without any idea of what they are doing. For some it is an active decision. Connie, who has a family history of a bleeding disorder, said: It’s easy to say you shouldn’t screen if your family isn’t affected by genetic disease, but if you are, why would you leave something like this completely to chance? If you think this world is all there is, it’s a completely understandable choice.

One test is an exception, in that it claims to give a definite result—the newly developed test that determines the fetal gender as early as 7 weeks (though it is more reliable later on). This test analyses DNA found in the mother’s blood and may be used to identify gender-linked genetic disorders, in order to terminate affected pregnancies early.[60]

Once a risk is identified with these tests, only affected couples are offered further diagnostic tests, because the diagnosis of problems involves tests that carry a risk of miscarriage even if the baby is completely normal. Counselling should be offered here, too. If an abnormality is diagnosed, a couple needs time to consider the diagnosis and make decisions. The tests may be used to plan the management of the pregnancy and delivery, to prepare for the care of a child with special needs, to plan for the adoption of the baby, or to enable parents to decide whether they want to continue with the pregnancy.[61]

The WHO’s principles of screening should be followed for these screening tests as well.

Let’s see how these tests measure up. A discussion of the ethics of these tests will follow an outline of what is involved.[62]

1. First trimester

a. Obstetric first-trimester ultrasound scan

As explained above, RANZCOG recommends that all women should be offered an obstetric ultrasound before 20 weeks of gestation to check that the baby will be born without problems. This is an ethical and responsible thing to do within our current technological abilities, but it is not what is being discussed here. Because the best time to date the pregnancy and check the number of babies is between 8-12 weeks, a first-trimester scan is often done for these reasons. But a practice has developed where other features of the baby may be examined at the same time, to look for abnormalities.

b. Nuchal translucency (NT) screening test

This is an ultrasound that examines a fluid-filled space at the back of a baby’s neck (described as nuchal translucency) and measures its depth. This test is normally carried out between 11½-13½ weeks. Marketing claims the test finds “all chromosome anomalies”, especially trisomies 13, 18 and 21 (Down syndrome).[63] Trisomies 13 and 18 are usually associated with structural anomalies found at the morphology scan (18-20 weeks).

The NT test examines the collection of fluid within the skin at the back of the fetal neck observed between 10-14 weeks gestation. The NT peaks at 12-13 weeks and often disappears by 15 weeks. An increased NT (greater than 3 mm at 10-12 weeks) was first shown to be associated with Down syndrome in 1989.[64] Using a standardized protocol by appropriately trained staff, the detection rate for Down syndrome is up to 82% (being the probability of a probability). But there is a 1 in 20 chance that you will get a false positive result—that is, that the test will indicate a risk of Down syndrome when in fact the baby is normal (there is always a risk of Down syndrome until a direct gene test proves otherwise).[65] This can be pretty stressful, as it cannot be confirmed either way at this stage of the pregnancy. Ultrasound scanning is a user-dependent test, and a review of NT scan operators found that 45% of them were not performing it accurately.[66]

If the NT scan is performed alone without a blood test (see below), about 75% of babies who have Down syndrome will receive an increased risk result, so about 25% of Down syndrome babies will be missed. A 2005 study suggested that NT is insufficiently effective to justify doing it alone.[67]

Some studies show that pregnant women in industrialized countries expect to have the NT scan routinely, often with little understanding of what it means.[68]

c. First-trimester serum screening (FTSS)

In addition to ultrasound examination, blood tests can be used in the first trimester to identify babies with an increased likelihood of having a chromosomal or structural abnormality. (These tests are not always available and may only be done in conjunction with the NT scan.) The levels of specific proteins in the mother’s blood are measured.[69] These test results are combined with the result of the NT scan and the mother’s age to provide information about the risk of chromosomal abnormalities.[70] They can also give the doctor information about increased risk of obstetric complications.[71]

For chromosomal anomalies, a low risk is considered to be less than 1 in 300, however the risk is still there; ‘low risk’ should not be confused with ‘no risk’. About 5% of the women who have this test (1 in 20) as well as the NT scan will receive an increased risk result, but it is important to realize that most of these babies will not have a problem with their chromosomes.[72]

Other techniques to detect chromosomal abnormalities that have been recommended, but are not routine, include the ultrasound examination of the nasal bone and measurement of blood flow in the heart and the liver (for increased detection of Down syndrome).[73]

In October 2011, a new blood test was released that checks fetal DNA in the mother’s blood to detect Down syndrome. A published study indicates this test has a lower false negative rate than previously available tests (it picked up 98.6% of children with Down syndrome in the study), and a false positive rate of only 0.2% (it gave a result of Down syndrome for 0.2% of the children who were normal).[74] The test’s authors see this as an advantage as it means fewer women will need to have the invasive tests (see below) that currently are required to definitely diagnose the syndrome. The test can be used as early as 10 weeks into a pregnancy and will cost about US$1900, although it will be considerably less if health insurers decide to cover it. At the time of writing, it has not been approved by the FDA.

2. Second trimester

a. Second-trimester screening scan/fetal anomaly ultrasound/morphology scan

The second-trimester screening ultrasound, usually performed between 18-20 weeks gestation, is a major tool used to screen for abnormalities in the baby. As it is not invasive, it carries no added risk of miscarriage.

This scan is used primarily for diagnosing fetal structural anomalies such as neural tube defects (abnormalities of the spinal cord or brain) and cardiac, gastrointestinal, musculoskeletal, urinary tract and central nervous system defects in the second trimester.[75]

Scanning has become a rite of passage for pregnant women in most developed countries. In Australia, it is estimated that 99% of babies are scanned at least once in pregnancy, usually as a routine prenatal ultrasound at 4-5 months. In the United States, where this cost is borne privately or by an insurer, around 70% of pregnant women have a scan, and in European countries it is estimated that 98% of pregnant women have an ultrasound, usually once in each trimester (third) of pregnancy.[76]

It’s worth asking whether the main reason scans are scheduled is to allow parents a last-minute check to see if there is anything wrong with the baby, so that if they decide to terminate the pregnancy, they can do so before the 20-22 week cut-off (depending on your country) when it will need to be registered formally as a birth.

Some people are concerned about the frequency with which ultrasound is being used in pregnancy. An American study—looking at ultrasound operators’ knowledge regarding safety aspects of diagnosticultrasound during pregnancy—found that ultrasound end usersare poorly informed about the safety issues of using ultrasound during pregnancy.[77] Choices in medicine should balance risk and benefit. A review paper examining the use of ultrasound in pregnancy found that:

Routine ultrasound in early pregnancy appears to enable better gestational age assessment, earlier detection of multiple pregnancies and earlier detection of clinically unsuspected fetal malformation at a time when termination of pregnancy is possible. However, the benefits for other substantive outcomes are less clear.[78]

This ultrasound should be distinguished from the commercial 3D and 4D entertainment ultrasounds, which are currently not recommended either.[79]

Neural tube defects occur in about one in 800 babies. The risk is increased if there is a family history of neural tube defects, or the mother has insulin-dependent diabetes or is taking medicine for epilepsy. The most common types are anencephaly (the brain is undeveloped and the baby cannot survive long after birth) and spina bifida (an opening on the baby’s spine that exposes the spinal cord and can cause paralysis and other problems.)

Surgery during pregnancy to cure spina bifida was first performed successfully in 1998. Mrs Kipfmiller was 23 weeks pregnant when surgeons lifted her son, Noah, out of her womb to close the opening over the spinal cord.[80] A 2011 study showed that spina bifida babies who are operated on in the womb have better outcomes than babies operated on after birth.[81] However, the mothers don’t do as well. Research is progressing to find a less invasive way to correct the abnormality.[82]

b. Second-trimester blood screening

The second-trimester blood screening test is usually done at the 15-18 week stage. It involves the measurement of three special proteins produced during pregnancy, and is sometimes known as the ‘triple test’ or, if an extra one is measured, the ‘quadruple (quad) test’.[83] It is also called the ‘maternal serum test’, or, as one brochure described it, “a blood test to determine the risk of certain problems in your pregnancy”. No wonder people are unclear about the purpose of these tests.

This test is not diagnostic—that is, it does not identify the presence of specific conditions but it indicates if there is an increased likelihood of them. An increased risk means that the test result gives you a risk of greater than 1 in 300. A reduced risk means there is less than a 1 in 300 chance of a birth defect.

The levels of the proteins in the blood, combined with the mother’s age and other factors, can allow the doctor to estimate the risk of the baby having a problem with a chromosomal abnormality (the wrong number of chromosomes, for example) or having a neural tube defect (problems with the development of the spine [spina bifida] or brain [anencephaly]).

Every pregnant woman faces the possibility of having a baby with a chromosomal problem or a neural tube defect. This blood test tries to estimate that risk more clearly. Most babies with a neural tube defect will be identified using this blood test alone. Maternal blood screening plus the 19-week ultrasound can identify spina bifida in 95% of cases and anencephaly in 100% of cases.

About 5% of tests will give an increased risk result, and most of these babies will not have a chromosome problem. Down syndrome occurs in about one in every 700 babies. About 60% of babies who have Down syndrome will have an abnormal result, so about 40% of them will be missed using this test alone. There also are other birth defects that will not be detected using these tests.[84]

Evaluating these tests

Although it would seem reasonable to expect that using both the first- and second-trimester screening tests would increase the chances of detecting a fetal abnormality, this is not recommended; the false positive rate increases, making it more likely that the mother will be offered more invasive diagnostic procedures, thereby increasing the risk of the spontaneous loss of an unaffected (normal) baby.

Confused? I should think so.[85] So let’s compare these second-trimester screening tests with the WHO guidelines for such tests (above).

  • Can they detect disease in the asymptomatic stage? Yes and no, although the baby will continue to survive in the womb with most abnormalities.
  • Do the tests have high sensitivity and specificity? If there is such a test, it isn’t being used here! There are so many false negatives and false positives, I am surprised these tests are used so widely.[86]
  • Are there available treatments for the conditions? For some, yes. Spina bifida can be treated with surgery while the baby is still in the mother’s womb, and other problems can be treated after birth; these things are worth identifying so that what can be done is done. Sometimes it means the doctor will monitor the pregnancy more carefully, but for most problems this is not the case; hence the association with abortion. In my experience, abortion is now sometimes chosen even for curable problems. I have a paediatrician friend who says she hasn’t seen a case of club foot (which may not even need surgery for correction) in at least 20 years. (There are regional variations.)
  • Is there evidence of improved outcome with treatment? If babies are treated and not aborted, then usually, yes.
  • Are the tests acceptable to the population? Who knows? This program of weeding out the less-than-perfect babies has not been widely debated in our community and, as already mentioned, many of the women presenting for tests don’t realize what they are for.
  • Are they cost efficient? Does it save money to abort the abnormal babies? A 1992 study in the United Kingdom concluded that the cost of antenatal screening to ‘avoid’ the birth of one baby with Down syndrome was £38,000, but the cost of lifetime care was estimated at £120,000. The study concluded that the screening was therefore “cost effective”, and recommended that screening be made available throughout the country.[87] In 2007, an Australian paper quoted three studies that came to a similar conclusion.[88] And in an article in Nature magazine, the head of Stanford’s Center for Law and Biosciences, Hank Greely, said that he estimates the number of genetic tests performed on unborn babies in the United States will jump within 5 years from the current 100,000 to over 3 million, and that abortions will be viewed as a way to prevent money being spent on “high-cost children”—because who really wants “to bring a child into the world who will suffer and cause their family undue burden and emotional and financial hardship?”[89]

According to the WHO screening guidelines then, these tests should not be used as screening tools. They give unreliable results for conditions we cannot cure, and so they have normalized the termination of pregnancy when babies are not ‘perfect’ enough. The whole point of screening is to improve the health of the population; instead, this screening promotes eugenics.

Prenatal diagnostic tests

Prenatal diagnostic testing gives parents reliable information about whether their baby has a genetic problem. While everyone hopes for a healthy baby, sometimes there are serious problems with physical or mental development. Women who have been shown to be at increased risk of having a baby with a fetal abnormality are offered diagnostic testing. It is important that the parents receive counselling before deciding whether they want this test. Their decision may be influenced by concerns about the risk of miscarriage (caused by the test), not wanting to know prior to the birth whether there is a problem, and whether termination of the pregnancy is acceptable to the family.[90] Even if parents receive counselling, it’s not always easy. Gail remembers: It was a hard decision because the risk of miscarriage was the same as the risk of Down syndrome. If I had a miscarriage when there was nothing wrong with the baby, it would have been a terrible result. Research shows that women undergoing tests like amniocentesis often feel ambivalent about the test, and that counselling can help to clarify their decision-making.[91]

Both chorionic villus sampling (CVS) and amniocentesis (discussed further below) are invasive sampling procedures. They both collect cells that are used for chromosome analysis or, in specific cases, for DNA or biochemical analysis, to diagnose a specific genetic condition. Non-invasive genetic testing is under development, such as the maternal blood tests that look at fetal DNA (see above).[92]

Those who consider undergoing these tests should seek specialist counselling from a genetics service. This will provide the information they need to decide whether they want to go ahead, and support them as they consider what is involved. The Centre for Genetics Education gives reasons for seeking specialist counselling, which include:

  • there is a family history of genetic disease (a disease that runs in the family) and a couple is worried that the baby will develop the condition
  • a previous child has a serious medical problem
  • the mother is in her mid-thirties or older
  • the couple are blood relatives
  • the prenatal screening tests have given an increased risk result.[93]

In a small number of cases, the three tests mentioned below will indicate that the baby has, or will develop, a problem. This is obviously a devastating event for parents.[94] While you might think that counselling would be mandatory in each stage of this process, in many centres it is not.

1. Chorionic villus sampling (CVS)

Chorionic villus sampling involves the collection of tissue from the chorionic villus, which is the substance lining the uterus that develops into the placenta. The cells of the chorion are similar to the baby’s cells, so by taking a sample the baby’s genetic make-up can be examined. A fine needle is inserted through the abdominal wall or, less commonly, via the vagina. Continuous ultrasound monitoring is used to guide the operator so that the baby is protected. CVS is usually performed between 11-13 weeks gestation. However, there is a 1% risk it will not be accurate because of contamination of the sample with maternal cells, or because of the placenta cells being slightly different from the baby’s. In these cases, it may need to be repeated. Complications associated with CVS include cramping, vaginal bleeding and a <1% risk of miscarriage.[95] Its role in the subsequent development of preeclampsia (a serious, potentially life-threatening condition developing in late pregnancy, characterized by a sudden rise in blood pressure) is still being debated.[96] If CVS is performed prior to 10 weeks gestation, there is a risk of procedure-related limb defects.[97]

CVS is a diagnostic test, so it can indicate reliably whether or not the baby has certain problems, but it does not check for all possible diseases.

2. Amniocentesis

Amniocentesis involves the collection of a small sample (around 15 ml) of the amniotic fluid around the fetus using a fine needle and ultrasound guidance. From this fluid, fetal cells are extracted and then grown. The procedure is usually performed at 15-20 weeks gestation and is associated with a 1% miscarriage risk. Early amniocentesis (performed between 9-14 weeks gestation) is not safe.[98] As with CVS, amniocentesis can give a definite result for some, but not all, genetic abnormalities in the baby.

Hospital ethicist Robert Orr tells the sad story of a couple who decided to abort their 20-week fetus after Down syndrome had been diagnosed by amniocentesis. The baby was born alive and pronounced dead sixteen minutes later. Nurses reported that the father examined the baby closely and said, I thought he was going to be abnormal.[99]

Due to the high rate of false positive results for the earlier tests, many women undergoing amniocentesis and CVS will not be carrying a Down syndrome child. However, with the miscarriage risk of these tests, it has been estimated that for every 660 Down syndrome children that are detected and terminated in England and Wales each year, 400 children without Down syndrome die as well.[100] While there was reaction against the suggestion that these figures demonstrated a need to withdraw screening completely, it was admitted that “There is clearly an urgent need for wider medical and public debate about screening”.[101]

CVS and amniocentesis results require a complete analysis of the chromosomes (karyotype), which usually takes 1-3 weeks. FISH[102] has hastened the result return time to 48-72 hours. Uncultured amniotic fluid can also be used to determine levels of a protein (AFP) that is present in open neural tube defects.

3. Cordocentesis/fetal blood sampling

If the results of the amniocentesis are unclear or a quick result is needed, cordocentesis may be recommended. It can be used to diagnose infection as well as some genetic conditions. A needle is passed into the umbilical cord using ultrasound for guidance. There is a miscarriage risk of around 2%, or even higher if there are other problems with the pregnancy. This test is not done very often.[103]

Ethical issues

When you realize that many of these screening tests need to be done early in a ‘normal’ pregnancy, you can understand why it is that general practitioners often order them before the mother has had her first visit with an obstetrician. However, this means the doctor ordering the test may not have specialist knowledge of the conditions being tested for, and may not be able to explain fully what is involved.[104] Research shows that not all women are fully informed before testing[105] and there is sometimes a lack of dialogue about sensitive topics such as disability and termination.[106] This problem needs to be addressed. It is possible there will be time pressure, and it may be difficult to provide comprehensive genetic counselling in a busy general practice;[107] these are difficult issues to raise with someone who has just found out they are pregnant. Hence the continued ignorance of what these tests are for.

However, this is a violation of the informed consent process, which demands we know what and why procedures are being carried out on our bodies, before we agree to participate.

Comprehensive counselling allows parents to know what a test is for and what risks may be involved, which will help them decide whether they want to go ahead with it. Counselling will also help them mentally prepare in case the test result is bad. If an abnormality is detected, an experienced counsellor can tell them whether it is a condition that can be corrected during, or soon after, the pregnancy. If they decide to continue the pregnancy with an untreatable disorder, they can obtain information about their baby’s condition that will help them to plan for raising a child with a disability or illness. Counselling also enables the doctor to know whether closer monitoring of the pregnancy is required.

It occurs to me that one problem with increasing public awareness of available screening may be the effect it has on bonding between parents and child. If the parents know they can screen for abnormalities and abort the imperfect baby, will they consciously, or unconsciously, hold back affection until they know whether they will carry the pregnancy to term? Abortion would potentially be easier if they felt less attached to their baby. I think this would be an unhelpful result and may further reduce the ability of parents to love their children unconditionally as our Father in heaven loves us. We should be careful not to allow the easy availability of abortion to reduce our sense of responsibility for our offspring.

Prenatal screening for the purpose of detecting abnormalities in the baby, with a view to abortion, is not ethical for those who want to protect all human life. While extra tests may be done at times to see if a pregnancy needs to be monitored more closely—some parents would like to screen ‘just so they know’—the only definitive tests are CVS and amniocentesis (and cordocentesis), which carry a risk of miscarriage. It has been argued that it is difficult to justify these investigations (and the risk to the child) merely to satisfy your curiosity. However, there is an argument for the tests in that they may also enable doctors to plan closer monitoring of the ‘at risk’ babies, whether it be Down syndrome or not. In the case of chromosomal abnormalities that are incompatible with life, palliative care plans can then be put in place.

Nonetheless, undertaking these tests can make things harder. British neonatologist John Wyatt has noted that, in his experience, the knowledge gained from fetal screening when the baby is impaired does not so much help parents to prepare psychologically, as lead them to wait for the birth with increasing anxiety and distress. He is concerned that this damages the normal relationship between parents and child; instead of spending the pregnancy learning to love the developing baby unconditionally, parents are wondering how the child will measure up.[108]

Biblical teaching is clear on this subject: killing innocent human beings is wrong (Exod 20:13).[109]

In Australia in 2002-2003, 63.6% of fetuses diagnosed with Down syndrome, and about 76% of fetuses affected with neural tube defects, were either aborted or died in the womb.[110] Screening is now more widespread and so the relative number of babies aborted will have increased since then. It is now standard for all pregnancies to be screened for Down syndrome in many industrialized countries, with the unspoken expectation that abnormal babies will be aborted. Recent research on screening for Down syndrome is working on new ways to screen during fetal life that are cheaper and more efficient. Over 350 articles have been written on this subject in the medical literature in just the last five years.[111]

Down syndrome

Down syndrome, or trisomy 21, is one of the most common chromosomal abnormalities in live born children. It is caused by a failure of the chromosomes to separate properly during production of the mother’s eggs (usually) or during cell division early in development, resulting in three copies of chromosome 21 in all, or some, of the baby’s cells.[112] The parents do not pass it on—they would usually have normal chromosomes. Children with Down syndrome have varied abilities dependent on heredity and early upbringing. The extra genetic material in the additional chromosome 21 causes them to have a number of common physical characteristics that give them their distinctive appearance. A child with Down syndrome is generally delayed in reaching developmental milestones (such as sitting, crawling, walking, talking, toileting, etc.) but, as the Down Syndrome Society of South Australia reports on its website, “For most children with Down syndrome the future is brighter today than it might have been only a short while ago. Educational and medical techniques have made, and continue to make, great advances in helping children with Down syndrome lead a life of dignity, meaning and independence.”[113] The Stanford University School of Medicine Down Syndrome Research Center is among several units that have been exploring the condition and they have had promising results in animal trials using medication to improve memory.[114] In 2002-2003, Down syndrome affected 11.1 in every 10,000 live births, but after early detection and terminations of pregnancy were included, the estimated actual rate for trisomy 21 was 26.3 per 10,000 pregnancies.

A 2011 study from the Children’s Hospital in Boston interviewed over 2000 parents of Down syndrome children and found that “The overwhelming majority of parents surveyed report that they are happy with their decision to have their child with DS and indicate that their sons and daughters are great sources of love and pride”.[115] Interestingly, 79% of parents felt their outlook on life was more positive because of their child, only 5% felt embarrassed by them and only 4% regretted having them. Similarly, nearly all siblings regarded their relationship with a brother or sister with Down syndrome as positive and enhancing. Of older siblings, 88% felt that the experience had made them better people.[116]

Neuroscientist Dr Alberto Costa is conducting the first human trial on ways to improve memory in Down syndrome, but he has noticed a reduction in available research funding since a blood test to screen for Down syndrome in pregnancy has been in development. In 2011, research into Down syndrome—a condition affecting 300,000 to 400,000 people in the United States—received US$22 million, while cystic fibrosis research—affecting about 30,000 (one tenth the number of people who have Down syndrome)—received US$68 million. “The geneticists expect Down syndrome to disappear,” Costa says, “so why fund treatments?”[117]

Soon it is expected that all pregnancies will be screened for cystic fibrosis (CF), a hereditary condition that leads to thickened secretions by the glands of the body. It is one of the most common life-shortening genetic diseases in the Western world. Although it cannot be cured, with today’s improved treatment most people with CF are able to lead reasonably normal and productive lives. Currently, babies are screened for CF at birth in many countries, including Australia. This is morally good, as it allows all children with CF to receive treatment early. However, screening early in the pregnancy is intended to prevent these children being born.

Kits are now available which allow parents to test to see if they are carriers of the CF gene. Parents who find that they are both carriers—and thus at risk of having a CF-affected child—are offered genetic screening in pregnancy.

Cystic fibrosis (CF)

CF is a chronic disease due to a defective gene that causes the body to produce unusually thick, sticky mucus. The mucus clogs the lungs, which leads to life-threatening lung infections, and obstructs the pancreas by stopping natural enzymes from helping the body break down and absorb food.

The CF gene is inherited as an autosomal recessive mutation, meaning that if two carriers have a child, there is a 1 in 4 chance that it will be affected by CF. While in the 1960s children with CF survived on average for less than one year, improvement in treatment has greatly improved the outlook for them. Most children with CF are fairly healthy until they reach adulthood. They are able to participate in most activities and should be able to attend school. Many young adults with CF are able to complete their education and find employment.[118] In the United States, the average life expectancy in 2009 for people with CF was in the mid-thirties,[119] and in Canada it was 48.1 in 2010.[120] Much research is being done aimed at seeking a cure.

Although CF affects only 1 in 2500 Caucasian babies born, 1 in 25 people of European descent are carriers with no symptoms of the disease. The customer information in the ‘carrier testing kit’ warns that while some people know they are at risk of being a carrier because of family history, over 85% of children born with CF do not have a known family history of the disease.[121]

There are two types of screening tests for CF because it can be caused by many different types of genetic mutation. The basic model (checking the F508del gene) will detect 79% of carriers, and by testing both parents, 90% of ‘at risk’ couples are detected. The deluxe test (checking the 32 most common CF mutations) detects about 90% of carriers.[122]

Eugenics

Eugenics is “the science of improving a population by controlled breeding so as to increase the occurrence of desirable heritable characteristics” (Oxford English Dictionary). Are we witnessing, in prenatal screening, a form of population ‘improvement’ that makes sure we stop any ‘faulty products’ from being born?

There have been court cases assessing ‘wrongful birth’ in many countries now; parents have regularly sued for the cost of caring for a disabled child. (Sometimes these suits are an attempt to pay for care costs in a society that underfunds support for the disabled.)

There was a new development in 2000 when a French court agreed that a child had a ‘right not to be born’. This was in the case of Nicholas Perruche, who had been born deaf, partly blind and brain-damaged from a rubella infection (his parents had already been compensated in 1997). His mother had asked her doctor to check if she had rubella at the time of her pregnancy because she wanted to abort rather than risk having a disabled child. Her doctor made a mistake.

Then, in 2001, a French court agreed again that a child had a ‘right not to be born’ when they awarded damages to a boy with Down syndrome. His mother would have aborted him if she’d known he had the condition, but her doctor also made a mistake. As a result, medical insurance premiums rose and French doctors protested until the French Parliament introduced legislation protecting them from being sued every time a prenatal screening test gave an unreliable result.

How do you test whether a life is worth living? I would have thought it was more a metaphysical question than a legal one, and I know some judges who agree with me. However, others seem to think it is better to be dead than disabled. Ethicist Julian Savulescu has suggested that:

…if a child is born with afflictions so severe and a life so miserable that he or she would be considered better off dead, then a claim could reasonably be made on the child’s behalf that he or she was harmed by being born. Nicholas Perruche may have such a life, but Down syndrome is not generally so severe as to make life not worth living.[123]

He notes that many people describe a happy and worthwhile life for those with Down syndrome. His test of whether a life is worth living is this: would life-prolonging medical treatment be administered if this child developed a life-threatening condition? I would say that this does not measure whether the life is worth living so much as whether he thinks the life is worth living.

In fact, Savulescu would contend that even if a parent can claim damages (because they would have aborted the child if they’d known), a child has no legitimate claim because they have benefited from the mistake—the benefit of having a life of one’s own. Against this, the parents can have great harm done to them if they have a child that they cannot “accommodate into their lives” (his words) whether disabled or not. Therefore, Savulescu sees these court cases as further justification for procreative autonomy—the right of the parents to decide whether or not and when to have children, and the right to be given information so they can decide about their pregnancy options: “Children have a profound impact on their parents’ lives. For this reason, people should retain control over their reproduction.”[124] Other supporters of prenatal screening agree.

Discoverer of the DNA molecule, James Watson, suggests: “Reproductive decisions should be made by women… If you could just say, ‘My baby’s not going to have asthma’, wouldn’t that be nice?”[125] One doctor told me I would be negligent if I were looking after a pregnant woman and did not let her know that these prenatal screening tests existed. “It doesn’t mean that everyone has to have them,” he said, “but they must be given enough information to allow them to decide for themselves.” I agree—informed consent is very important in medicine.

Susan, who had watched her brother die from muscular dystrophy at 13 years of age, said, Women who have decided to make the decision to terminate will make it on their own moral beliefs, and they’re not going to change. This sort of option will give them a choice not to terminate the pregnancy. She underwent CVS and all was well.

You can understand the fear that some parents will have for their children, having seen the suffering of a loved one. I am not trying to play down the seriousness of congenital disease and the challenge it represents for the parents. I am trying to look at this situation from the perspective of the child. The arguments above are considering the child’s right to life on the basis of what suits the parents, and I would like parents to know what they’re getting into if they decide to have these tests. I don’t expect everyone to agree with me, but my point is that the issue of informed consent for prenatal screening is still a big problem.

Ultrasound technology is improving all the time, and it is possible that this contributes to some of the false positive results. With each improvement, more structures are visible in the baby, and there have been cases where abortion has been recommended for ‘abnormalities’ that were subsequently found to be normal structures that had just never been seen before with inferior machines.

As a student, I was present at the post-mortem examination after a mistaken diagnosis of porencephaly (abnormal cavities in the brain) led to the decision to abort a baby. The ‘malformation’ on the 18-week ultrasound was found to represent receding cysts in the choroid plexus. The baby was completely normal. Subsequent review of the scans by five senior ultrasonographers at the time found that all agreed with the diagnosis of porencephaly. It was only when they were more familiar with the higher resolution scans that they realized their mistake. A lot of diagnoses by inexperienced operators are changed when they are reviewed at specialist centres.

Many health professionals are aware that the consent process is often unsatisfactory. In 2007, British ultrasound specialist Hylton Meire said, “Women are being referred for amniocentesis on the basis of a very flimsy test. And I think they need to understand just how inaccurate it can be.”[126] At the time, he calculated that in the United Kingdom as many as 3200 women a year would lose a normal child because of miscarriage following CVS or amniocentesis. Obstetrician Andrew McLennan commented, “It’s not a eugenics project or euthanasia. It’s simply about offering every woman the choice to have further testing if the scan is abnormal.”[127]

However, it’s not just a problem in the United Kingdom. In many places, prenatal screening tests are routine or require a proactive ‘opt-out’ notification (partly due to time constraints), thus increasing the use of the tests at the expense of informed choice.[128] An observer in the United States wrote, “Pregnant women rarely know what their blood is being tested for, or that the results may lead to painful dilemmas involving disability and abortion”. And yet, in response to a proposed toughening up of consent laws in California, he said, “If the new laws result in one woman shunning screening, or the avoidable birth of a severely disabled child, the state and its people will be the losers”.[129]

Inherent in all these supportive comments is the idea that some lives are not worth living. You could say that simply existing is in the created child’s best interests, as life is a basic good, but the argument we are hearing is that it is only good if you are normal, healthy and wanted by your parents.

I would like to make several points here. The argument for reproductive autonomy ignores the fact that the best way to avoid having children you don’t want is to avoid sexual intercourse in the first place (though I realize this idea is immediately rejected in our self-gratifying society). Supporters of reproductive autonomy are ignoring the fact that when pregnancy occurs, the child already exists; hence the convenience of the ‘personhood’ debate—because if it isn’t human, it doesn’t matter what you do with it. But I would argue that the question is not about whether you want a particular child; it is about whether you want to kill it. What conditions are considered adequate grounds for abortion after screening? Where is society heading?

Well, for a start, in many places completely healthy babies are aborted simply because they are not the preferred gender. One paediatrician wrote:

Formerly, imperfections warranting termination were those incompatible with life, but things have changed and I have observed terminations for a range of treatable conditions, for example, gastroschisis (85% expected survival), low meningocoele (probably walk unaided), dysplastic changes in one kidney (which might never have caused any trouble), and even cleft lip. There seems to be at best a commitment to perfection these days; at worst, an intolerance of interference with personal aspirations. Just how much disease parents will be able to accept in their baby is unknown, but I fear a new Eugenics based on the New Genetics.[130]

Some paediatric surgeons are concerned that expertise they have gained in treating congenital abnormalities may not be passed on to their trainees; because so many affected children are being aborted, surgeons do not always have an opportunity to demonstrate the techniques. Extrapolating from there, those children not aborted will receive poorer quality treatment as a result of diminished expertise, and poorer community support as the parents and children are ostracized for the child’s (avoidable) existence. For diseases such as spina bifida, complications of Down syndrome and congenital heart disease, there are many surgical solutions for problems that are now considered grounds for abortion.

Disability groups and feminist supporters fear that when physicians encourage the abortion of fetuses with diseases or disabilities, they are fostering intolerance of the less-than-perfect people who have already been born. How will this make us think of them? How will it make them think of themselves? Anecdotal evidence gives cause for concern: in one study of 73 parents-to-be undergoing prenatal screening, 30% said they thought screening might encourage negative attitudes toward the disabled; and 50% thought that mothers of disabled children would be blamed for their failure to undergo screening or have abortions.[131] Disability groups are also concerned that fewer resources will be allocated for research and the treatment of congenital abnormalities, if these abnormalities become a feature of a less educated, less socioeconomically mobile class who are less able to access antenatal services that include prenatal screening.

American educator Charlotte Spinkston is concerned that when a disability is discovered through prenatal screening, termination of the pregnancy is often the only option offered as a first response. In her experience, far too many women are told of other options only after they have told health professionals of their decision not to abort. She says:

It is important that a range of available options be offered to families who receive diagnoses of disability in utero before they decide (when it is feasible to do so). It is crucial for families to be informed of community-based family information and support services as well as hospital-based services as soon as possible.[132]

So how do we know which lives are worth living and which ones are not? There are many disabled people who wish someone would ask them. Disability advocate Harriet Johnson writes:

The social-science literature suggests that the public in general, and physicians in particular, tend to underestimate the quality of life of disabled people, compared with our own assessments of our lives. The case for assisted suicide [read abortion] rests on stereotypes that our lives are inherently so bad that it is entirely rational if we want to die.[133]

She insists that the presence or absence of a disability doesn’t predict quality of life, and she is concerned that children with disabilities are being killed because parents prefer normal babies: “I have trouble with basing life-and-death decisions on market considerations when the market is structured by prejudice”.[134]

One study found that because most women have a lot of confidence in their doctors and rely on their advice, what may seem to be consumer demand is actually just medical dominance of antenatal care.[135] Unfortunately, the medicalization of pregnancy is a topic beyond the scope of this book.

I will leave it to you to decide whether you think there is a eugenics agenda here.

The experience of Dutch doctors practicing euthanasia on disabled newborns was published in 2005. These doctors developed the Groningen protocol, which aims to set the standard for doctors wishing to relieve “unbearable suffering” in severely impaired newborns.[136]

Disability in the Western world

Society has often singled out the disabled. In antiquity, children identified as weak or disabled were commonly abandoned and not considered worth rearing, with Aristotle approving it as an excuse for infanticide (no ultrasounds back then, therefore no chance to abort). The Judaeo-Christian culture, as recorded in the Bible, was more inclusive at times, with biblical records of the disabled living with their families: Mephibosheth, son of Jonathan, was crippled in both feet. King David showed kindness to him for Jonathan’s sake and he always ate at the king’s table (2 Samuel 9). However, the disabled were portrayed as helpless (2 Sam 5:6-8) and the deformed were excluded from the priesthood (Lev 21:17-23).[137]

According to Jayne Clapton and Jennifer Fitzgerald, the history of disability in the West has been characterized by the progressive development of several models of disability: the religious model, the medical/genetic model, and the rights-based model. These models influence how we respond to the disabled. Yet even though the models have changed over time, one thing about them remains constant—the idea of ‘otherness’.[138]

In the agrarian societies of pre-industrialization, when people lived by the seasons and the pace was less pressured, people perceived to have limitations often lived with their families. They were given tasks within their capabilities, but which helped the family as a whole to function. They were accommodated within the patterns of daily life. Others, though, could not stay with their families. Some were ostracized and their survival was threatened, because of a popular conception that such people were monsters and therefore unworthy of human status. Some became homeless and dislocated for other reasons such as poverty or shame. Mental illness was not understood and was often ascribed to evil forces. Religious communities responded to these groups of people in various ways, including seeking cures through exorcisms, purging, rituals and so on, or providing care, hospitality and service as acts of mercy and Christian duty to ‘needy strangers’.

Our Western society is not comfortable with disability.

Joseph Carey Merrick (1862-1890), also known as John Merrick, was an English man who was lame and had severe deformities, making his speech difficult to understand. Unable to find employment, he arranged to be exhibited as a human curiosity named the Elephant Man. He was visited by a surgeon named Frederick Treves, who invited Merrick to be examined and photographed. He was found to be sensitive and of normal intelligence and became well-known in London society after he went to live at the London Hospital. The official cause of his death was asphyxia, although Treves, who dissected the body, said that Merrick had died of a dislocated neck. He believed that Merrick—who had to sleep sitting up because of the weight of his head—had been attempting to sleep lying down, to ‘be like other people’.

His body is still preserved in the Royal London Hospital Museum. In 2001, it was proposed that Merrick had suffered from a combination of neurofibromatosis type I and Proteus syndrome. DNA tests conducted on his hair and bones have proved inconclusive.

In the post-industrial era, disability in Western society has been regarded as an individual affliction described in medical terms. The person is disabled—he has the problem, not society, and he has to deal with it. However, in a youth-obsessed, death-denying culture, disability is seen as a failure and those who suffer from disability are looked down upon. They are ‘impaired’. Society does not adequately support their needs, and so they become ‘handicapped’—not from the disability so much as the society that is unwilling to fully accommodate them.

While the campaign for ‘the rights of the disabled’ has brought some additional entitlements to people with disability, it has not significantly altered the way in which disability is viewed and so, despite changes in the law and some improvement in facilities for the disabled, some people’s lives have not necessarily changed for the better. In fact, new developments in genetic technology and reproductive technology threaten to further separate the person with the disability. With our increasing understanding of genetics, we seem to be expanding the population of the disabled to include people who have abnormal chromosomes, even if no abnormality has been physically expressed. They too are suffering discrimination, and even elimination, due to their impaired genes. Ironically, by demanding their ‘rights’, the disabled may be accentuating their ‘otherness’, thus affirming the assumption that they are a separate group.

Some people have suggested that it is not fair to expect society to pay the medical costs of disabled children when they could have been aborted. Colleagues of mine have come across cases of families who have been refused health insurance for their newborn child because their child’s disability was a ‘previously known condition’: the suggestion is that parents who do not screen their children and abort the defective samples are the negligent ones. What was initially presented as a parent’s choice in the name of freedom (i.e. prenatal screening) is becoming an obligation.

Will society become less tolerant of the disabled if fewer of them are born? Would it be better for a child to have no life at all? This is what one contributor to the Human Genome Project, Grant Sutherland, has suggested:

Anyone who’s born (with a disability) that we have to deal with, we have to deal with with compassion, with understanding. But if we can prevent the birth of handicapped individuals, then I think that society will be better off.[139]

The disability lobby condemned his remarks. Of course, society would be better off if no-one was ever afflicted with disease. But that will not be possible in this world. Anyone who dreams of a world without disability is doing just that: dreaming.

Perhaps we would all be better off if we regarded disability as part of a spectrum on which we all are placed—a dynamic spectrum that we could all move along, in different directions, as life and health have an impact on our lives. If we live in a fallen world, we have to expect some difficulties. According to the United Nations, around 10% of the world’s population (or 650 million) is living with disability—the world’s largest minority.[140] More people will become disabled after birth than before birth.[141] On average, in countries with life spans exceeding 70 years, 8 years (or 11.5%) of a person’s life will be affected by disability. Numbers will increase as the population ages.[142] This, too, is acknowledged in the Bible, with the frailty of old age portrayed for heroes such as Israel (Jacob), who lost his eyesight (Gen 48:10), and David, who could not keep himself warm (1 Kgs 1:1).

I work in the area of palliative care, which involves care of those with life-threatening illness. My patients often tell me that they don’t want to be a burden, but we will all be a burden at some time in our lives, from the first nappy change onwards. We are our brother’s keeper. It is normal to be disabled or dependent at times; this is part of what it means to live in a fallen world. It is only in the new creation that our bodies will be imperishable (1 Cor 15:42-44).

This idea informs the work of the WHO. The International Classification of Functioning, Disability and Health (ICF) is a classification of health and health-related domains that casts new light on the notions of ‘health’ and ‘disability’. It acknowledges that every human being can experience a decrease in health and thereby experience some degree of disability. Disability is not something that only happens to a minority of human beings. The ICF thus ‘mainstreams’ the experience of disability and recognizes it as a universal human experience. By shifting the focus from what caused the disease to how it affects the way we live, it places all health conditions on an equal footing, allowing them to be compared using a common measure for both health and disability.[143]

This, then, is what it means to be human.


  1. C Ronsmans and WJ Graham, ‘Maternal mortality: who, when, where, and why’, Lancet, vol. 368, no. 9542, 30 September 2006, pp. 1189-1200. 
  2. MC Hogan, KJ Foreman, M Naghavi, SY Ahn, M Wang, SM Makela, AD Lopez, R Lozano and CJL Murray, ‘Maternal mortality for 181 countries, 1980-2008: a systematic analysis of progress towards Millennium Development Goal 5’, Lancet, vol. 375, no. 9726, 8 May 2010, pp. 1609-23. 
  3. ibid. 
  4. In Australia, leading direct causes of maternal death were amniotic fluid embolism, thromboembolism and hypertension. Leading indirect causes of maternal death were cardiac disease, psychiatric-related causes and non-obstetric haemorrhage. See EA Sullivan, B Hall and JF King, Maternal Deaths in Australia 2003-2005, Maternal deaths series no. 3, cat. no. PER 42, AIHW, Canberra, 2008. 
  5. S Abeywardana and EA Sullivan, Congenital Anomalies in Australia 2002-2003, Birth anomalies series no. 3, cat. no. PER 41, AIHW, Canberra, 2008. 
  6. ibid., p. vi. 
  7. ibid. 
  8. F Al-Yaman, M Bryant and H Sargeant, Australia’s Children: Their Health and Wellbeing 2002, AIHW cat. no. PHE 36, AIHW, Canberra, 2002, p. 103. 
  9. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists (RANZCOG), Pre-pregnancy Counselling and Routine Antenatal Assessment in the Absence of Pregnancy Complications (C-Obs-3), College statement, RANZCOG, Melbourne, November 2009 (viewed 19 December 2011): www.ranzcog.edu.au/component/content/article/503-c-obs/283-pre-pregnancy-counselling-routine-antenatal-assessment-c-obs-3.html 
  10. DL Heymann (ed.), ‘Rubella (German Measles), Congenital Rubella (Congenital Rubella Syndrome)’, in Control of Communicable Diseases Manual, 19th edn, American Public Health Association, Washington DC, 2008, pp. 529-34; S Reef, S Redd, E Abernathy and J Icenogle, ‘Rubella’, in Centers for Disease Control and Prevention (CDC), Manual for the Surveillance of Vaccine-Preventable Disease, 4th edn, CDC, Atlanta, 2008, chapter 14; CDC, Epidemiology and Prevention of Vaccine-Preventable Diseases, 12th edn, eds W Atkinson, S Wolfe and J Hamborsky, Public Health Foundation, Washington DC, 2011, pp. 275-89. 
  11. S Reef and S Redd, ‘Congenital Rubella Syndrome’, in CDC, Manual for the Surveillance of Vaccine-Preventable Disease, op. cit., chapter 15. 
  12. Heymann (ed.), loc. cit. 
  13. SA Plotkin and S Reef, ‘Rubella vaccine’, in SA Plotkin, WA Orenstein and PA Offit (eds), Vaccines, 5th edn, Saunders, Philadelphia, 2008, pp. 735-72. 
  14. LE Riley, ‘Measles, mumps, varicella and parvovirus’, in DK James, PJ Steer, CP Weiner and B Gonik (eds), High Risk Pregnancy, 3rd edn, Saunders, Philadelphia, 2006, pp. 636-8. 
  15. Plotkin and Reef, loc. cit. 
  16. Australian Government Department of Health and Ageing (AGDHA), ‘Rubella’, in The Australian Immunisation Handbook, section 3.19, 9th edn, Office of Health Protection, Canberra, 2008. 
  17. CDC, Epidemiology and Prevention of Vaccine-Preventable Diseases, op. cit., pp. 301-24; M Marin, D Güris, SS Chaves, S Schmid, JF Seward and CDC, ‘Prevention of varicella: Recommendations of the Advisory Committee on Immunization Practices (ACIP), MMWR Recommendations and Reports, vol. 56, no. RR-4, 22 June 2007, pp. 1-40. 
  18. AGDHA, ‘Varicella’, in The Australian Immunisation Handbook, section 3.24, op. cit. 
  19. GN Papanicolaou and HF Traut, ‘The diagnostic value of vaginal smears in carcinoma of the uterus’, American Journal of Obstetrics and Gynecology, vol. 42, no. 2, August 1941, pp. 193-206. 
  20. AGDHA, National Cervical Screening Program, AGDHA, Canberra, 2009 (viewed 19 December 2011): www.health.gov.au/internet/screening/publishing.nsf/Content/ncsp-policies; National Health and Medical Research Council (NHMRC), Screening to Prevent Cervical Cancer: Guidelines for the Management of Asymptomatic Women with Screen Detected Abnormalities, NHMRC, Canberra, 2005. 
  21. LE Riley, Rubella in Pregnancy, UpToDate, Waltham MA, 7 June 2010 (viewed 19 December 2011): www.uptodate.com/contents/rubella-in-pregnancy (subscription based) 
  22. A false negative test result indicates no abnormality when there really is one; a false positive result indicates an abnormality when there really isn’t one. 
  23. JMG Wilson and G Jungner, ‘Principles and Practice of screening for disease’, WHO Chronicle, vol. 22, no. 11, 1968, p. 473. 
  24. Also known as full blood examination (FBE), complete blood count (CBC), blood cell profile, blood count, haemogram. 
  25. J Strong, ‘Anaemia and white blood cell disorders’, in James et al. (eds), op. cit., pp. 867-9; IR Mabry-Hernandez, ‘Screening for iron deficiency anemia—including iron supplementation for children and pregnant women’, American Family Physician, vol. 79, no. 10, 15 May 2009, pp. 897-8. 
  26. RANZCOG, loc. cit. 
  27. Rhesus status is part of your blood type. 
  28. L Dean, Blood Groups and Red Cell Antigens, National Center for Biotechnology Information, Bethesda, 2005, chapter 4. 
  29. ibid. 
  30. World Health Organization (WHO), Sexually Transmitted Infections, fact sheet no. 110, WHO, Geneva, August 2011 (viewed 19 December 2011): www.who.int/mediacentre/factsheets/fs110/en; Western Australian Department of Health, Guidelines for Managing Sexually Transmitted Infections, section 2.7.9, WA Health, Shenton Park, 2010 (viewed 19 December 2011): www.silverbook.health.wa.gov.au/Default.asp?PublicationID=1&SectionID=148 
  31. A Daley and L Gilbert, ‘Treponema pallidum (Syphilis)’, in P Palasanthiran, M Starr and C Jones (eds), Management of Perinatal Infections, Australasian Society for Infectious Disease (ASID), Sydney, 2002, pp. 42-4. 
  32. EK Johnson and JS Wolf Jr, Urinary Tract Infections in Pregnancy, WebMD, New York, 2011 (viewed 19 December 2011): http://emedicine.medscape.com/article/452604-overview 
  33. RL Sweet and RS Gibbs, Infectious Diseases of the Female Genital Tract, 5th edn, Lippincott Williams and Wilkins, Philadelphia, 2009, p. 256. 
  34. TM Hooton, Urinary Tract Infections and Asymptomatic Bacteriuria in Pregnancy, UpToDate, Waltham MA, 21 May 2012 (viewed 25 June 2012): www.uptodate.com/contents/urinary-tract-infections-and-asymptomatic-bacteriuria-in-pregnancy (subscription based) 
  35. WHO, Mother-to-Child Transmission of HIV, WHO, Geneva, 2011 (viewed 19 December 2011): www.who.int/hiv/topics/mtct/en 
  36. DH Watts, ‘Human immunodeficiency virus’, in James et al. (eds), op. cit., pp. 620-21. 
  37. Joint Ministerial Advisory Committee on AIDS, Sexual Health and Hepatitis and Intergovernmental Commmittee on AIDS, Hepatitis and Related Diseases HIV Testing Policy Steering Group, National HIV Testing Policy 2006, F Bowden and K Stewart (chairs), AGDHA, Canberra, 2006; ML Giles, A Pedrana, C Jones, S Garland, M Hellard and SR Lewin, ‘Antenatal screening practice for infectious diseases by general practitioners in Australia’, Australian and New Zealand Journal of Obstetrics and Gynaecology, vol. 49, no. 1, February 2009, pp. 39-44. 
  38. BM Branson, HH Handsfield, MA Lampe, RS Janssen, AW Taylor, SB Lyss, JE Clark and CDC, ‘Revised recommendations for HIV testing of adults, adolescents, and pregnant women in health-care settings’, MMWR Recommendations and Reports, vol. 55, no. RR-14, 22 September 2006, pp. 1-17. 
  39. Heymann (ed.), ‘Hepatitis viral’, in Control of Communicable Diseases Manual, op. cit., pp. 295-7. 
  40. A Mellor, ‘Routine antenatal screening’, Obstetrics and Gynaecology Magazine, vol. 11, no. 2, Winter 2009, pp. 13-15. 
  41. A Safir, A Levy, E Sikuler and E Sheiner, ‘Maternal hepatitis B virus or hepatitis C virus carrier status as an independent risk factor for adverse perinatal outcome’, Liver International, vol. 30, no. 5, May 2010, pp. 765-70. 
  42. AGDHA, ‘Hepatitis B’, in The Australian Immunisation Handbook, section 3.6, op. cit.; CR MacIntyre, ‘Hepatitis B vaccine: risks and benefits of universal neonatal vaccination’, Journal of Paediatrics and Child Health, vol. 37, no. 3, June 2001, pp. 215-17. 
  43. Heymann (ed.), ‘Hepatitis viral’, op. cit. 
  44. Hepatitis C Subcommittee of the Ministerial Advisory Committee on AIDS, Sexual Health and Hepatitis and Blood Borne Virus and Sexually Transmissible Infections Subcommittee of the Australian Population Health Development Committee, National Hepatitis C Testing Policy, AGDHA, Canberra, May 2007. 
  45. RANZCOG, loc. cit.; Giles et al., loc. cit.; Hepatitis C Subcommittee and Blood Borne Virus and STIs Subcommittee, loc. cit. 
  46. SJ Buckley, ‘Ultrasound: not so safe and sound’, Nexus, vol. 9, no. 6, October-November 2002. 
  47. RANZCOG, loc. cit. 
  48. American College of Obstetricians and Gynecologists (ACOG), Routine Ultrasound in Low-Risk Pregnancy, practice pattern no. 5, ACOG, Washington DC, August 1997. 
  49. M Whitworth, L Bricker, JP Neilson and T Dowswell, ‘Ultrasound for fetal assessment in early pregnancy’, Cochrane Database of Systematic Reviews 2010, no. 4, 14 April 2010. 
  50. NW Cheung, JN Oats and HD McIntyre, ‘Australian carbohydrate intolerance study in pregnant women: implications for the management of gestational diabetes’, Australian and New Zealand Journal of Obstetrics and Gynaecology, vol. 45, no. 6, December 2005, pp. 484-5. 
  51. RANZCOG, Diagnosis of Gestational Diabetes Mellitus (C-Obs 7), College statement, RANZCOG, Melbourne, November 2011 (viewed 19 December 2011): www.ranzcog.edu.au/component/content/article/503-c-obs/417–diagnosis-of-gestational-diabetes-mellitus-c-obs-7.html 
  52. CA Crowther, JE Hiller, JR Moss, AJ McPhee, WS Jeffries and JS Robinson, ‘Effect of treatment of gestational diabetes mellitus on pregnancy outcomes’, New England Journal of Medicine, vol. 352, no. 24, 16 June 2005, pp. 2477-86. 
  53. Heymann (ed.), ‘Group B Streptococcal Sepsis of the Newborn’, in Control of Communicable Diseases Manual, op. cit., pp. 585-7. 
  54. RANZCOG, Screening and Treatment for Group B Streptococcus in Pregnancy (C-Obs 19), College statement, RANZCOG, Melbourne, July 2011 (viewed 19 December 2011): www.ranzcog.edu.au/component/content/article/503-c-obs/414–screening-and-treatment-for-group-b-streptococcus-in-pregnancy-c-obs-19.html 
  55. A Ohlsson and VS Shah, ‘Intrapartum antibiotics for known maternal Group B streptococcal colonization’, Cochrane Database of Systematic Reviews 2009, no. 3, 8 July 2009; SM Garland and M Starr, ‘Streptococcus, group B’, in Palasanthiran et al. (eds), op. cit., pp. 36-8. 
  56. J Garcia, L Bricker, J Henderson, M Martin, M Mugford, J Nielson and T Roberts, ‘Women’s views of pregnancy ultrasound: A systematic review’, Birth, vol. 29, no. 4, December 2002, p. 225-50. 
  57. As mentioned earlier, a false negative test result indicates no abnormality when there really is one; a false positive result indicates an abnormality when there really isn’t one. 
  58. C Gaff, J Newstead and M Saleh, ‘Testing and Pregnancy’, in Genetics Education in Medicine Consortium, Genetics in Family Medicine, Biotechnology Australia, Canberra, 2007. 
  59. WHO, Sickle-cell Disease and Other Haemoglobin Disorders, fact sheet no. 308, WHO, Geneva, January 2011 (viewed 19 December 2011): www.who.int/mediacentre/factsheets/fs308/en;E Dormandy, M Gulliford, S Bryan, TE Roberts, M Calnan, K Atkin, J Karnon, J Logan, F Kavalier, HJ Harris, TA Johnston, EN Anionwu, V Tsianakas, P Jones and TM Marteauik, ‘Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial’, British Medical Journal, vol. 341, no. 7779, 30 October 2010, c5132; V Tsianakas, M Calnan, K Atkin, E Dormandy and TM Marteau, ‘Offering antenatal sickle cell and thalassaemia screening to pregnant women in primary care: a qualitative study of GPs’ experiences’, British Journal of General Practice, vol. 60, no. 580, November 2010, pp. 822-8. 
  60. SA Devaney, GE Palomaki, JA Scott and DW Bianchi, ‘Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-analysis’, Journal of the American Medical Association, vol. 306, no. 6, 10 August 2011, pp. 627-36. 
  61. D Tapon, ‘Prenatal testing for Down syndrome: comparison of screening practices in the UK and USA’, Journal of Genetic Counseling, vol. 19, no. 2, April 2010, pp. 112-30. 
  62. For an introduction to genetics, see the beginning of appendix III. 
  63. Pregnancies with the other autosomal trisomies do not survive. 
  64. M Bronshtein, S Rottem, N Yoffe and Z Blumenfeld, ‘First-trimester and early second-trimester diagnosis of nuchal cystic hygroma by transvaginal sonography: diverse prognosis of the septated from the nonseptated lesion’, American Journal of Obstetrics and Gynecology, vol. 161, no. 1, July 1989, pp. 78-82. 
  65. RJM Snijders, EA Thom, JM Zachary, LD Platt, N Greene, LG Jackson, RE Sabbagha, K Filkins, RK Silver, WA Hogge, NA Ginsberg, S Beverly, P Morgan, K Blum, P Chilis, LM Hill, J Hecker and RJ Wapner, ‘First-trimester trisomy screening: nuchal translucency measurement training and quality assurance to correct and unify technique’, Ultrasound in Obstetrics and Gynecology, vol. 19, no. 4, 1 April 2002, pp. 353-9. 
  66. DL Nisbet, AC Robertson, PJ Schluter, AC McLennan and JA Hyett, ‘Auditing ultrasound assessment of fetal nuchal translucency thickness: A review of Australian national data 2002-2008’, Australia and New Zealand Journal of Obstetrics and Gynaecology, vol. 50, no. 5, 2010, pp. 450-5. 
  67. NJ Wald, C Rodeck, AK Hackshaw and A Rudnicka, ‘SURUSS in perspective’, Seminars in Perinatology, vol. 29, no. 4, August 2005, pp. 225-35. 
  68. H Gottfredsdóttir, J Sandall and K Björnsdóttir, ‘“This is just what you do when you are pregnant”: a qualitative study of prospective parents in Iceland who accept nuchal translucency screening’, Midwifery, vol. 25, no. 6, December 2009, pp. 711-20. 
  69. Some more technical details: FTSS measures pregnancy associated placental protein-A (PAPP-A) and maternal serum free beta subunit human chorionic gonadotropin (free β-hCG). PAPP-A is a protein produced by both the embryo and placenta during pregnancy. Whereas elevated levels of this marker are not associated with adverse obstetric outcomes, low levels are associated with spontaneous fetal loss at less than 24 weeks gestation, low birth weight, preeclampsia, gestational hypertension, preterm birth and stillbirth, preterm premature rupture of membranes and placental abruption.Free β-hCG is a glycoprotein hormone produced during pregnancy by the developing embryo and later by the placenta. Low maternal serum levels of free β-hCG during the first trimester are associated with low birth weight and miscarriage.An increased serum level of free β-hCG with decreased PAPP-A indicates an increased risk of trisomy 21, whereas low levels of both analytes indicate increased risk of trisomy 18. The combination of maternal age with the first-trimester markers NT, PAPP-A and free β-hCG increases the detection rate of trisomy 21 to around 80%-90%. The combined first-trimester screen (scan plus bloods) has a diagnosis rate of 90% and a false positive rate of 5%. 
  70. KH Nicolaides, ‘Screening for fetal aneuploidies at 11 to 13 weeks’, Prenatal Diagnosis, vol. 31, no. 1, January 2011, pp. 7-15. 
  71. L Dugoff, JC Hobbins, FD Malone, TF Porter, D Luthy, CH Comstock, G Hankins, RL Berkowitz, I Merkatz, SD Craigo, IE Timor-Tritsch, SR Carr, HM Wolfe, J Vidaver and ME D’Alton, ‘First-trimester maternal serum PAPP-A and free-beta subunit human chorionic gonadotropin concentrations and nuchal translucency are associated with obstetric complications: A population-based screening study (The FASTER Trial)’, American Journal of Obstetrics and Gynecology, vol. 191, no. 4, 2004, pp. 1446-51. 
  72. K Barlow-Stewart and G Parasivam (eds), The Australasian Genetics Resource Book, 8th edn, The Centre for Genetics Education, St Leonards, 2007. 
  73. KO Kagan, I Staboulidou, J Cruz, D Wright and KH Nicolaides, ‘Two-stage first-trimester screening for trisomy 21 by ultrasound assessment and biochemical testing’, Ultrasound in Obstetrics and Gynecology, vol. 36, no. 5, November 2010, pp. 542-7; N Maiz and KH Nicolaides, ‘Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications’, Fetal Diagnosis and Therapy, vol. 28, no. 2, August 2010, pp. 65-71. 
  74. GE Palomaki, EM Kloza, GM Lambert-Messerlian, JE Haddow, LM Neveux, M Ehrich, D van den Boom, AT Bombard, C Deciu, WW Grody, SF Nelson and JA Canick, ‘DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study’, Genetics in Medicine, vol. 13, no. 11, November 2011, pp. 913-20. 
  75. FM Ndumbe, O Navti, VN Chilaka and JC Konje, ‘Prenatal diagnosis in the first trimester of pregnancy’, Obstetrical and Gynecological Survey, vol. 63, no. 5, May 2008, pp. 317-28. 
  76. SJ Buckley, ‘Ultrasound Scans—Cause for Concern?’ Kindred, vol. 24, December 2007-February 2008, pp. 12-23. 
  77. E Sheiner, I Shoham-Vardi and JS Abramowicz, ‘What do clinical users know regarding safety of ultrasound during pregnancy?’, Journal of Ultrasound in Medicine, vol. 26, no. 3, March 2007, pp. 319-25. 
  78. JP Neilson, ‘Ultrasound for fetal assessment in early pregnancy’, Cochrane Database of Systematic Reviews 1998, no. 4, 26 October 1998 (reprinted in Cochrane Library, no. 4, 2007). 
  79. SE Simonsen, DW Branch and NC Rose, ‘The complexity of fetal imaging: reconciling clinical care with patient entertainment’, Obstetrics and Gynecology, vol. 112, no. 6, December 2008, pp. 1351-4. 
  80. ‘Surgery on baby in womb cures spina bifida’, Sydney Morning Herald, 23 November 1998. 
  81. NS Adzick, EA Thom, CY Spong, JW Brock III, PK Burrows, MP Johnson, LJ Howell, JA Farrell, ME Dabrowiak, LN Sutton, N Gupta, NB Tulipan, ME D’Alton and DL Farmer, ‘A randomized trial of prenatal versus postnatal repair of myelomeningocele’, New England Journal of Medicine, vol. 364, no. 11, 17 March 2011, pp. 993-1004. 
  82. Coping with the news that there is something wrong with your baby is discussed in chapter 9. 
  83. Some more technical details: second-trimester maternal serum screening involves measurement of alphafetoprotein (AFP), free beta or total human chorionic gonadotropin (free β-hCG or total hCG) and unconjugated estriol (uE3), together sometimes known as the ‘triple test’ or, if it includes inhibin A, the ‘quadruple (quad) test’.AFP is a normal fetal protein that can also be detected in maternal serum. Normally, serum concentrations rise until the third trimester and then fall to non-pregnant concentrations at delivery. The concentration of AFP in both the amniotic fluid and the mother’s serum also rises with a fetal neural tube defect in 80% of affected fetuses (spina bifida), with a false positive rate of 3%, in the second trimester (see R Harris, ‘Regular review: Maternal serum alphafetoprotein in pregnancy and the prevention of birth defect’, British Medical Journal, vol. 280, no. 6225, 17 May 1980, pp. 1199-1202).There are several other causes for such a rise, including other fetal malformations, multiple pregnancy, threatened abortion and intrauterine death, but the most common reason for an abnormal AFP level is an inaccurate estimated gestational age. Higher levels of maternal serum AFP appear to correlate with a higher incidence of poor pregnancy outcome, such as intrauterine growth restriction, haemorrhage, gestational hypertension, spontaneous preterm labour and delivery, and perinatal morbidity.Unlike in the first trimester, higher levels of free β-hCG or total hCG in the second trimester are correlated with a higher frequency of perinatal complications such as gestational hypertension, preterm labour or delivery, and stillbirth.Unconjugated estriol (uE3) is an oestrogen only made by the placenta, and low (sometimes undetectable) maternal serum levels are associated with fetal chromosomal abnormalities, structural anomalies (anencephaly), fetal death and a number of fetal metabolic disorders.Inhibin A is also a second-trimester marker made by the placenta. High serum levels are associated with triploidy (69 chromosomes in each cell) or the loss of one twin in the first trimester (see KM Goodwin, PJ Sweeney, GM Lambert-Messerlian and JA Canick, ‘High maternal serum inhibin A levels following the loss of one fetus in a twin pregnancy’, Prenatal Diagnosis, vol. 20, no. 12, December 2000, pp. 1015-7). 
  84. Barlow-Stewart and Parasivam, loc. cit. 
  85. See appendix III for more information about genetic test results. 
  86. P Wieacker and J Steinhard, ‘The prenatal diagnosis of genetic diseases’, Deutsches Ärzteblatt International, vol. 107, no. 48, 3 December 2010, pp. 857-62. 
  87. NJ Wald, A Kennard, JW Densem, HS Cuckle, T Chard and L Butler, ‘Antenatal maternal serum screening for Down’s syndrome: results of a demonstration project’, British Medical Journal, vol. 305, no. 6850, 15 August 1992, pp. 391-4. 
  88. MD Coory, T Roselli and HJ Carroll, ‘Antenatal care implications of population-based trends in Down syndrome birth rates by rurality and antenatal care provider, Queensland, 1990-2004’, Medical Journal of Australia, vol. 186, no. 5, 5 March 2007, pp. 230-4. 
  89. H Greely, ‘Get ready for the flood of fetal gene screening’, Nature, vol. 469, no. 7330, 20 January 2011, pp. 289-91, cited in K Hawkins, ‘Wrong to use prenatal genetic testing to push for abortion’, Lifenews.com, 5 April 2011 (viewed 30 June 2012): www.lifenews.com/2011/04/05/wrong-to-use-prenatal-genetic-testing-to-push-for-abortion/ 
  90. Gaff et al., loc. cit. 
  91. JC Sapp, SC Hull, S Duffer, S Zornetzer, E Sutton, TM Marteau and BB Biesecker, ‘Ambivalence toward undergoing invasive prenatal testing: an exploration of its origins’, Prenatal Diagnosis, vol. 30, no. 1, January 2010, pp. 77-82. 
  92. CA Hyland, GJ Gardener, H Davies, M Ahvenainen, RL Flower, D Irwin, JM Morris, CM Ward and JA Hyett, ‘Evaluation of non-invasive prenatal RHD genotyping of the fetus’, Medical Journal of Australia, vol. 191, no. 1, 6 July 2009, pp. 21-5. 
  93. Barlow-Stewart and Parasivam, loc. cit. 
  94. Subsequent management is discussed in chapter 9. For further explanation of genetics, see appendix III. 
  95. A Tabor and Z Alfirevic, ‘Update on procedure-related risks for prenatal diagnosis techniques’, Fetal Diagnosis and Therapy, vol. 27, no. 1, January 2010, pp. 1-7; Z Alfirevic, K Sundberg and S Brigham, ‘Amniocentesis and chorionic villus sampling for prenatal diagnosis’, Cochrane Database of Systematic Reviews 2003, no. 3, 21 July 2003 (reprinted in Cochrane Library, no. 4, 2007). 
  96. WA Grobman, M Auger, LP Shulman and S Elias, ‘The association between chorionic villus sampling and preeclampsia’, Prenatal Diagnosis, vol. 29, no. 8, August 2009, pp. 800-803; A Khalil, R Akolekar, P Pandya, A Syngelaki and K Nicolaides, ‘Chorionic villus sampling at 11 to 13 weeks of gestation and hypertensive disorders in pregnancy’, Obstetrics and Gynecology, vol. 116, no. 2, part 1, August 2010, pp. 374-80. 
  97. H Firth, ‘Chorion villus sampling and limb deficiency—cause or coincidence?’, Prenatal Diagnosis, vol. 17, no. 13, Deceber 1997, pp. 1313-30. 
  98. Alfirevic et al., ‘Amniocentesis and chorionic villus sampling’, loc. cit. 
  99. RD Orr, Medical Ethics and the Faith Factor, Eerdmans, Grand Rapids, 2009, p. 419. 
  100. F Buckley and SJ Buckley, ‘Wrongful deaths and rightful lives—screening for Down syndrome’, Down Syndrome Research and Practice, vol. 12, no. 2, October 2008, pp. 79-86. 
  101. P Summerfield, ‘Prenatal screening for Down’s syndrome: balanced debate needed’, Lancet, vol. 373, no. 9665, 28 February 2009, p. 722. 
  102. FISH (fluorescence in situ hybridization) is a technique used to detect specific features in DNA on chromosomes. 
  103. Tabor and Alfirevic, loc. cit. 
  104. HJ Harris, ‘The primary care perspective of quality in clinical genetics service—United Kingdom as an example’, in U Kristoffersson, J Schmidtke and JJ Cassiman (eds), Quality Issues In Clinical Genetic Services, Springer, London, 2010, pp. 75-82. 
  105. HJ Rowe, JRW Fisher and JA Quinlivan, ‘Are pregnant Australian women well informed about prenatal genetic screening? A systematic investigation using Multidimensional Measure of Informed Choice’, Australian and New Zealand Journal of Obstetricians and Gynaecologists, vol. 46, no. 5, October 2006, pp. 433-9. 
  106. JM Hodgson, LH Gillam, MA Sahhar and SA Metcalfe, ‘“Testing times, challenging choices”: An Australian study of prenatal genetic counseling’, Journal of Genetic Counseling, vol. 19, no. 1, February 2010, pp. 22-37. 
  107. C Nagle, S Lewis, B Meiser, J Gunn, J Halliday and R Bell, ‘Exploring general practitioners’ experience of informing women about prenatal screening tests for foetal abnormalities: A qualitative focus group study’, BMC Health Services Research, vol. 8, no. 114, 28 May 2008. 
  108. J Wyatt, Matters of Life and Death, 2nd edn, IVP, Leicester, 2009, p. 174. 
  109. The arguments for and against abortion are examined in chapter 7. A discussion about responding to disability is found in chapter 9. 
  110. Abeywardana and Sullivan, loc. cit. 
  111. M Hill, Trisomy 21, UNSW Embryology Wiki, Sydney, 29 May 2012 (viewed 2 July 2012): http://embryology.med.unsw.edu.au/Defect/page21.htm. 
  112. 3%-4% of trisomy 21 is due to a ‘balanced’ translocation of chromosome 21 on to another chromosome (usually chromosome 14). When this occurs, the parent with the balanced translocation has the normal amount of genetic material, but it is distributed unevenly so that during production of the egg (or sperm), there is an uneven distribution resulting in trisomy at fertilization. 
  113. Down Syndrome Society of South Australia (DSSSA), About DS: General Overview, DSSSA, Greenacres, 2006 (viewed 20 December 2011): www.downssa.asn.au/about_ds/what.php 
  114. S Heyn, ‘Pharmacotherapy improves cognitive performance in a Down syndrome mouse model’, News and Views, vol. 9, 2007 (viewed 20 December 2011): http://dsresearch.stanford.edu/community/archive_issue_09.html 
  115. BG Skotko, SP Levine and R Goldstein, ‘Having a son or daughter with Down syndrome: Perspectives from mothers and fathers’, American Journal of Medical Genetics Part A, vol. 155, no. 10, October 2011, pp. 2335-47. 
  116. ibid. 
  117. D Hurley, ‘A drug for Down syndrome’, New York Times Magazine, 29 July 2011. 
  118. PubMed Health, ‘Cystic fibrosis’, A.D.A.M. Medical Encyclopedia, PubMed Health, Bethesda, 1 May 2011 (viewed 20 December 2011): www.ncbi.nlm.nih.gov/pubmedhealth/PMH0001167/ 
  119. Cystic Fibrosis Foundation, What is the Life Expectancy for People Who Have CF (in the United States)?, Cystic Fibrosis Foundation, Bethesda, 8 May 2011 (viewed 1 July 2011): www.cff.org/aboutcf/faqs/#What_is_the_life_expectancy_for_people_who_have_CF_(in_the_United_States)? 
  120. Canadian CF Patient Data Registry Working Group, Canadian Cystic Fibrosis Patient Data Registry Report 2010, Cystic Fibrosis Canada, Toronto, 2010, p. 3. 
  121. Genea, Before Getting Pregnant, Genea, Sydney, 2011 (viewed 2 July 2012): www.geneagenetics.com.au/Before-getting-pregnant 
  122. ibid. 
  123. J Savulescu and M Spriggs, ‘Is there ever a “right not to be born”?’ Australian Medicine, vol. 14, no. 6, 1 April 2002, p. 8. 
  124. ibid. 
  125. JD Watson in ‘A Conversation with James D Watson’, interview with J Rennie, Scientific American, April 2003, p. 69. 
  126. L Hall, ‘Healthy babies “at risk”: UK doctor questions Down test’, Sun-Herald, 26 August 2007, p. 22. 
  127. ibid. 
  128. J Searle, ‘Fearing the worst—why do pregnant women feel “at risk”?’, Australian and New Zealand Journal of Obstetrics and Gynaecology, vol. 36, no. 3, August 1996, pp. 279-86. 
  129. P Billings, ‘Stem cell research: Dangerous territory?’ New Scientist, vol. 2576, November 2006. 
  130. J Whitehall, ‘The challenge of the new genetics’, Luke’s Journal, December 1996. 
  131. E Kristol, ‘Picture perfect: the politics of prenatal testing’, First Things, vol. 32, April 1993, pp. 17-24. 
  132. C Spinkston, ‘He giveth more grace’, Leadership Perspectives in Developmental Disability, vol. 3, no. 1. 
  133. HM Johnson, ‘Unspeakable conversations’, New York Times Magazine, 16 February 2003. 
  134. ibid. 
  135. Searle, loc. cit. 
  136. The protocol was introduced in two medical journals: see E Verhagen and PJJ Sauer, ‘The Groningen protocol: Euthanasia in severely ill newborns’, New England Journal of Medicine, vol. 352, no. 10, 10 March 2005, pp. 959-62; and AAE Verhagen and PJJ Sauer, ‘End-of-life decisions in newborns: An approach from the Netherlands’, Pediatrics, vol. 116, no. 3, September 2005, pp. 736-39. 
  137. Further discussion of the biblical understanding of disability is found in chapter 9. 
  138. J Clapton and J Fitzgerald, The History of Disability: A History of ‘Otherness’, Renaissance Universal, London, 2011 (viewed 20 December 2011): www.ru.org/human-rights/the-history-of-disability-a-history-of-otherness.html 
  139. S Dow, ‘Don’t play God with our lives, plead disabled’, Sun-Herald, 25 February 2001, p. 54. 
  140. United Nations Secretariat for the Convention on the Rights of Persons with Disabilities (SCRPD), Fact Sheet on Persons with Disabilities, SCRPD, New York, 2006 (viewed 20 December 2011): www.un.org/disabilities/default.asp?id=18 
  141. Australian Bureau of Statistics (ABS), Disability, Ageing and Carers, Australia: Summary of Findings, ABS cat. no. 4430.0, ABS, Belconnen, 2003. 
  142. SCRPD, loc. cit. 
  143. WHO, Towards a Common Language for Functioning, Disability and Health ICF, WHO, Geneva, 2002, pp. 2-3 (viewed 20 December 2011): www.who.int/classifications/icf/training/icfbeginnersguide.pdf 

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