Disabilities

Pre-natal Testing and Foetal Disability

It is frequently assumed that a woman whose foetus has been found to have a disability will want to have an abortion.

?False positive' and ?false negative'
The terms ' false positive' and 'false negative' always refer to the results of tests taken. This means that of those foetuses diagnosed after the tests as either having or not having the disability, a certain percentage will be wrongly diagnosed.

False positive means that a foetus will be said to have a disabling condition but, in fact, it will be found later that s/he will not have that condition.

False negative means that a foetus will be said not to have a particular disabling condition but, in fact, it will be found later that s/he will have that condition.

Certainly, different studies report different percentages and different tests report different percentages but the point that must be noted is that ALL tests report both ' false positives' and ' false negatives'. i.e. their results are not absolutely reliable.

Built in to pre-natal testing programmes is the aim of discovering disabled foetuses and then aborting them. This will inevitably mean that a certain number of non-disabled foetuses will be aborted in error, and others will also die as a result of the test which can cause a miscarriage

Routine tests.

"Dating scan"
This is offered to all pregnant women at 12 weeks to check the age of the foetus. A hand held instrument called a transducer is used to produce a moving picture of the foetus on a video screen, using high-frequency sound waves. Ultrasound scans are generally thought to be safe for the foetus. 

However, according to an article in The Lancet, studies in Sweden and Norway have shown that unborn children exposed to only one or two ultrasound scans while unborn are more likely than usual to be left-handed or ambidextrous (i.e. able to use both hands equally well.) This is particularly marked in boys, and may indicate that the scans are causing subtle changes in the foetus's brain.5

Blood tests

These are offered to all pregnant women at around 12 weeks when a small amount of blood is taken from the woman's arm. They are done to check the mother's blood group, particularly the rhesus factor.

Blood tests are believed to be very safe, with no significant risks for either mother or foetus. They can be used to predict complications at an early stage, enabling treatment to be initiated before any problems arise.

Urine tests

These tests, offered to all pregnant women, can reveal signs of pre-eclampsia, a dangerous condition for both mother and foetus which can be treated if discovered early. They can also detect signs of diabetes in the mother, which could harm the foetus if treatment is not initiated.

There are no disadvantages of urine tests for either mother or foetus.



Blood tests, plus taking account of the mother's age, detect correctly around 60% of babies with Down syndrome.

However, the maternal blood tests, with no other factor taken into account, are reported to have a "false positive" rate of 8%, meaning that: 8 times out of 100 positive tests, the foetus will not have the disability which is indicated by the test.

Combined tests

The Nuchal Translucency scan (NT) is done at 11-14 weeks. It is offered to only 10-15% of pregnant women. It uses a high-resolution ultrasound scan to measure the width of a thin layer of fluid between two folds of skin at the back of the foetus's head.

Babies with some genetic conditions, including Down syndrome, have a thicker layer of this fluid.

The foetus's heart rate is also measured (babies with Down syndrome tend to have a faster heartbeat than others) and the mother's age is considered. All this information is then combined to provide an assessment of the chance that the foetus has a disability. It is claimed that this test will detect 78% of babies with chromosomal disorders.

Integrated screening

A combination of Nuchal Translucency (NT) and maternal blood tests may give more accurate results. NT can be combined during the first three months of pregnancy with a blood test called PAPP ("pregnancy associated plasma protein") which is often found in low levels when the foetus has Down syndrome.

In addition a "quadruple" blood test is also done which measures four different markers during the second trimester. When combined with a consideration of the mother's age, early reports suggest that this may detect 90% of babies with Down syndrome.

However, there is a "false positive" rate of 1-2%. This means that of the babies diagnosed positively as having Down syndrome 1-2% (up to 2 out of 100) actually will not have the disability. This is known as integrated testing also called "OSCAR"- the "One Stop Clinic for Assessment of Risk." A study, published in the British Medical Journal, found that parents whose unborn child was diagnosed as having a chromosomal disability were sometimes given "grossly inadequate or frankly misleading information" leading many to abort their babies.

Chris Rudge found out during an ultrasound scan at 8 months of pregnancy that her foetus had had a brain haemorrhage and could be brain damaged. The doctor said it was a disaster and told her there was really no hope. The doctor then asked if she would abort.

She refused but he asked again, "Are you sure you won't consider a termination?" (i.e., abortion) He asked this question five times, and each time Chris Rudge refused. The doctor also said, "You do realise your foetus will not look like other children? Its head will be badly disfigured."

Katie Rudges's parents love their daughter and are very proud of all she has achieved, none of which would have been possible had they succumbed to the pressure put upon them by the doctor. ("Thanks for letting me live, Mummy" by Chris Rudge. Take-a-Break 2 August 2001)

It is not unusual for parents to experience pressure to be screened, and to abort if a disability is found. It is reported that abortions are carried out on 92% of babies found to have Down syndrome and 90% of babies with spina bifida.

Reliability of Testing

No pre-natal test is 100% accurate. In every test there is a possibility of: "false positive" results (when a foetus is reported to have a disability that s/he does not have) "false negative" results (when a disability a foetus does have is not detected.). Each test has a different rate.

A Department of Health spokesperson said, "We welcome any studies which could lead to improved ways of detecting Down syndrome." Economic arguments are sometimes presented to women, to justify pre-natal detection of disability. These claim that as disabled people "cost society a lot of money" it is preferable to detect disabled babies in the womb. They can then be aborted and save the country the money it would have spent in caring for them.

This sort of calculation is highly offensive to born disabled people, and implies not only that their lives have no value, but that they actually have a negative value.

Ethics of testing

Whether or not pre-natal testing is seen as "ethical" depends on the purpose for which it is done. Sometimes it is done to help the foetus ? for instance to diagnose a condition which could be treated in the womb such as spina bifida. However, the vast majority of pre-natal tests aim to detect disabled babies with the aim of aborting them.

Pre-natal tests are sometimes said to be done to "reassure" the mother. However, this begs the question of what will be done if a disability is discovered. There is ample evidence of pressure on women whose unborn babies have been found to have a disability.

No Less Human, a disability rights group, campaigns to protect those they consider to be the most vulnerable of human beings from harm. Pre-natal testing, they believe, sends out a strong message to adult disabled people that society would very much rather that they did not exist. It is clear that disabled unborn children are particularly vulnerable.

Since most screening and diagnostic tests aim to detect disabled babies with the aim of aborting them, No Less Human believes that this can never be ethical, because it involves denying to disabled babies their infinite human worth, and their absolute right to life.

The policy of seeking out before birth and destroying unborn children suspected of having a disability is a form of fatal discrimination.

They consider the policy of seeking out before birth and destroying unborn children suspected of having a disability is a form of fatal discrimination to the individual, and deprives society of a chance to learn the truth about the value of every life.

Evangeline - a case study

Evangeline Edwards, was born with a very rare condition called Thrombocytopenia Absent Radius (TAR) Syndrome in December 1994. Less than fifty children in the UK are thought to have this condition. People with TAR syndrome have a blood clotting deficiency, because they have a reduced number of platelets in the blood. Often blood transfusions are needed, and in the early years, minor injuries may cause major bleeding. In addition the arms are shortened, and the legs are often bowed.

Evangeline's parents, Sue and Evan, found out that she had a disability during a routine scan at 20 weeks into the pregnancy. They were given several different diagnoses, including being told that her chest was so small she would not be able to breathe when born, before tests in London gave more hope.

They were strongly encouraged to consider abortion, which they refused. Sue and Evan did not know for sure what Evangeline's disability was, and whether or not she would survive, until she was actually born.

Evangeline had many hospital stays during her first few years because minor illnesses such as stomach upsets were much more serious for her.

In 2004 Evangeline was reported as doing very well in a mainstream school. She walks short distances with callipers, and uses a wheelchair when she feels she needs it. Life is not always easy for her, but she has a lot of friends and enjoys many activities, including horse riding and attending her local "Out and About" group for disabled and non-disabled young people.

Evangeline is a very bright child, who has had an inquisitive and determined nature since she was born ? and even before that! She has a wonderful ability to deal with strangers who ask too many questions, and also has a knack of finding her own ways to do things she wants to do ? like playing the piano with her feet!

Evangeline has achieved so much, especially for someone whom doctors, at one point, thought would never breathe alone. Her mother, Sue, says: "Words will never describe how much we love her. She has brought so much joy to our family."

References:

1. Reducing the Risk: Safer Pregnancy and Childbirth" HMSO, London 1978. This DHSS document states "... because caring for the handicapped can impose great burdens on our society the prevention of handicaps ... in addition to its other benefits may save money. The costs of providing amniocentesis for all expectant mothers over the age of 40 years, and maternal serum AFP screening for all pregnant women, would be more than offset by the economic benefits in terms of savings of expenditure on children and adults with Down syndrome and spina bifida."
2. "Costs were overestimated" by Prof. T.M. Reynolds. British Medical Journal 18 November 1995. Prof. Reynolds estimated the cost of detecting a baby with Down syndrome was £40,000. He said "£40,000 to prevent the birth of a baby with Down syndrome to a woman under 30 may be perceived as expensive but is low compared with the costs of caring for someone with the syndrome."
3. "Down's testing can be a lottery" by Nicki Daniels. The Times 5 June 2002
4. The chance of having a baby with Down syndrome rises steeply with the mother's age. At age 20, the chance is one in 1,527. This increases to one in 30 when the mother is aged 44. "Good Birth Guide: Part Two: antenatal tests." The Times 16 July 2002
5. Paneth N, Dept of Epidemiology, College of Human Medicine, Michigan State University, East Lansing, MI 48824, USA. "Prenatal sonography ? safe or sinister?" The Lancet 4 July 1998