downs syndrome testing in pregnancyEthical questions about reproductive dilemmas are common.  A new test for Downs Syndrome has been  just been approved which uses a simple blood test from the mother  which can detect DNA from the fetus and sequence it and avoids the need for an amniocentesis or chorionic villus biopsy. It is known as NIPT  and results can be turned around in five days.It is safe and is 99% accurate. It represents a technological advance but may feel uneasy about what they feel is a form of eugenics.

At present a test called the Triple Test is commonly done when a woman is 11 weeks pregnant. This involves doing an ultrasound and blood tests and involves no harm to the foetus. However it is not accurate and simply indicates whether there is a higher risk of a Down’s Syndrome baby. If the test is positive a further test, an amniocentesis or CVS [chorionic villous sampling] is offered to get a definitive answer on whether the baby has Down’s Syndrome or not. This last test is accurate but carries a 2% risk of causing a miscarriage as it involves passing a large needle into the uterus and is invasive. If the baby is found to have a positive amniocentesis or CVS then the couple are usually offered the option of a termination on the grounds of foetal abnormality.

Question [This has been taken from a past question asked at medical school interviews]

A couple have a positive Triple test but say that they would be against terminating the pregnancy [opting for an abortion] even if the baby had Down’s Syndrome. However they request further invasive testing. What issues does this raise?

 Answer

Remember that with ethical dilemmas such as this, you do not have to state your personal view on abortion and such issues. They will not ask and it is better not to make your answer personal. They are testing you to see whetheryou understand and are aware of the issues involved.

I would tackle this question by describing the situation from all the different points of view bearing in mind the Four Pillars of Medical Ethics. [Autonomy, Beneficence, Non Maleficence, Justice].See my book –Medical School Interviews the Knowledge chapter on ethics.

The point of view of the parents

Autonomy is an important principle in medical ethics. The mother has the right to decide what happens to her and to decide what happens to the foetus [provided the pregnancy has not gone beyond 24 weeks in UK law].  Autonomy is dependent on informed consent i.e. the doctor has to ensure that she is  aware of the risks and benefits of the procedure  but if she is and she has competence [is able to make  rational decisions] then the decision to have the procedure is her’s.

It may seem odd that the parents are willing to risk the life of a baby they want whatever the result but it may be that the parents wish to be mentally prepared and know before hand if the baby has Down’s syndrome.

The point of view of the foetus

The procedure carries a risk of death and is of no benefit to the foetus. The doctor has a duty not to harm a patient [non maleficence].  However the foetus is not yet recognised as a person and abortions on demand are effectively legal up to 24 weeks according to British law as the risk of terminating a pregnancy is less than the risk, of the pregnancy continuing, to the physical and mental health of the mother.

The doctor’s point of view

The doctor’s point of view really does not matter. Their personal beliefs should never interfere with the treatment of a patient.The doctor should always act in the best interest of their patient [beneficence].The doctor should discuss the situation with the parents and give them information in a non biased manner, allow them to make up their mind and support them in their decision.

Society’s point of view

This is reflected in the laws of the country [Justice]. The Abortion Act gives the right to terminate the pregnancy to the mother until the foetus is considered viable [24 weeks of pregnancy]. If the mother has the right to terminate the pregnancy then it can be argued that she has the right to have a test that carries a small risk to the pregnancy. There is the cost of the procedure, this would be funded by the NHS which is funded by taxation and has limited funds. Is this a reasonable use of resources?

Prenatal testing for disorders carries serious questions for society.Eugenics was carried out in Nazi Germany and the disabled, including Down’s Syndrome children were sent to gas chambers. Many argue that with figures that suggest that about 90%  of  Down’s Syndrome children are now aborted, we are carrying out such policies but before birth. Down’s Syndrome children and adults are known for being happy, loving individuals certainly capable of enjoying life. Why should their life be less valued? We could be creating aslippery slope which may lead to intolerance of disability and the creation of designer babies where parents choose the characteristics of their children.

I really recommend that you watch this insightful programme that was shown today made by Sally Phillips an actress and writer who has a Down’s Syndrome child.

 http://bbc.in/2dwamVo

http://www.bbc.co.uk/iplayer/episode/b07ycbj5/a-world-without-downs-syndrome

‘There is great value in things not being perfect. There is a crack in everything, that is how the light gets in and the imperfections are where humanity is most visible.’ Sally Phillips.

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