Preempting fate

As a result of the current state of prenatal screenings for Irish women, a simple procedure can become so complex, writes Alison Lee Scientists at the Cyprus Institute of Neurology and Genetics have recently developed a new test for Down’s syndrome in unborn babies. This test involves taking a simple blood sample from the mother and analysing the small amount of foetal DNA present for an extra copy of Chromosome 21, the cause of Down’s syndrome.This test represents a breakthrough in the field of pre-natal testing. Until now, an “amniocentesis” had to be done to definitively ascertain whether or not a baby would be born with Down’s syndrome. This involves inserting a needle into the uterus to sample the amniotic fluid in which the developing foetus is suspended. But this carries a high risk: 1 in 300 women who opt for the procedure subsequently miscarry due to infection introduced to the uterus via the sampling instruments.However in the UK, pregnant women over the age of 35 often choose to undergo pre-natal testing as their babies carry a higher risk of the condition. Although Down’s syndrome usually occurs in about 1 of 733 births, the chances rise to 1 in 350 when the child’s mother is older than 35. Thus older parents are faced with what can be an agonising decision – should they risk their unborn babies life to check for the presence of the condition, or simply wait and see?The prospect of easy access to quicker, safer pre-natal tests brings us to the ethical minefield of abortion. In the UK, easy access to private abortion clinics means that women whose unborn children are diagnosed with genetic disorders can choose to have their pregnancies terminated.In fact, in 2008 the NHS reported that 92 per cent of women who received an antenatal diagnosis of babies with Down’s syndrome chose to have a termination. Thus approximately 1,100 pregnancies per year in England and Wales are ended for this reason.This figure may seem high, but the real numbers may be even higher. In 2009, it was revealed that doctors often didn’t record the real reason for having a termination instead recording the reason as “social” abortions as they wished to spare the women’s feelings.Why would women rather be seen to have a “social abortion” than admit the reason that their child has Down’s syndrome? Social abortions are those carried out when the life of the mother is not in danger – for financial or personal reasons, for example.Perhaps the logic behind this stems from a greater acceptance in today’s society of people with Down’s syndrome. Although the condition is associated with cognitive defects of varying severity, people with Down’s syndrome often live full and happy lives.Those with Down’s syndrome today can expect access to education, employment and acceptance by the community – Ireland’s hosting of the Special Olympics opened the world’s eyes to just how capable these so-called “disabled” people are at living life.However, people with Down’s syndrome only experience a high quality of life if they have fully-committed, loving parents who dedicate vast amounts of their time and energy to looking after their children. This poses a huge challenge.Children with Down’s syndrome are often born with congenital heart defects, and it is common for them to experience other health issues throughout life such as partial deafness, hyperthyroidism, and poor eyesight. Conditions such as these often require lifelong treatment and medication – a responsibility the parents of Down’s syndrome sufferers must undertake.While growing up, children with Down’s syndrome often need access to services such as physiotherapy, speech therapy and occupational therapy. Special needs education must also be provided as children with Down’s syndrome exhibit varying levels of learning disability. Time is not the only resource parents must invest to support their children – money is another factor. It’s no secret that the health service in Ireland is far from ideal.Take speech therapy for example: currently, children may spend up to three years on a waiting list for an appointment with a speech therapist. This is a completely unacceptable length of time where early intervention is essential to allow them a chance to learn the communication skills necessary to lead a normal life.If parents are financially secure enough to go private, their children may receive the special care they need. But these days, many Irish families are far from wealthy and the thought of taking responsibility for a child with Down’s syndrome may be too much for some prospective parents.Another unavoidable question is who will look after their child when the parents pass away? People with Down’s syndrome can indeed lead independent lives, but many need a certain amount of care and assistance.And what is the current situation in this country regarding pre-natal screening for conditions like Down’s syndrome? Do women in Ireland seek termination if pregnancies due to this condition? Sadly, our knowledge of these matters is almost non-existent, due to the lack of routine screening for Down’s syndrome here.On the Down’s syndrome Ireland website, the only information available regarding prenatal testing is a link to a British NHS booklet and another to a similar American publication. It seems expectant mothers in Ireland can expect to be kept in the dark until after their child is born. Screening tests are available in Northern Ireland, but research has shown that the majority of women refuse these tests due to the emotional impact they would experience.But surely pre-natal screening for conditions such as Down’s syndrome should at least be an option in modern Ireland, as it is in the UK? Many people argue that pre-natal screening could be extremely valuable to Irish families, as it would allow parents and siblings to prepare themselves emotionally and financially for the birth of a child who will require special care. Others believe that there’s no point to these tests being available here, as abortion is currently illegal in this country.It seems ludicrous that abortion still isn’t legal in Ireland, even in cases where the unborn baby is incompatible with life. Take for example the famous case of “Miss D”, a young girl whose unborn baby was diagnosed with “anencephaly” – a lethal condition in which the foetus’ head fails to develop.The 17-year-old was prevented from travelling to the UK for a termination by the HSE who threatened her with restraint. Miss D won her case against the HSE and flew to England for an abortion. Even after the controversy caused by this case, the Irish government are nowhere near making real decisions on this divisive issue.Although the real figures are far from certain, currently about 7000 women are thought to travel from Ireland to the UK for abortions each year. If antenatal Down’s syndrome screenings became available, it’s likely that this number would increase.The Irish government therefore has a number of serious issues to face. Firstly, safer and more accurate antenatal screenings are now available worldwide for congenital defects – chances are women in Ireland will soon demand the opportunity to avail of these. Secondly, the age of mothers-to-be is rapidly increasing, resulting in increased numbers of Down’s syndrome births.This means the government will come under pressure to fund the extra healthcare and special needs education required to meet this development. Thirdly the contentious issue of abortion, which has been dodged by successive Irish governments for decades, still needs to be addressed. Minister for Health, James Reilly, certainly has a lot to think about, but the current administration cannot hide from these matters behind the economic crises forever.