In the United Kingdom, a study is currently underway by University College London’s Institute of Child Health to evaluate how women feel about non-invasive prenatal diagnosis (NIPS) with regard to the prenatal diagnosis (PND) of Down syndrome. A total of eight maternity hospitals are involved. The on-going study should continue until mid 2015. Almost 400 women have been invited to take part so far.
The study was presented by Dr. Celine Lewis at the University College London’s Institute of Child Health during the annual conference of the British Society for Genetic Medicine. She pointed out that women have overall confidence in the technique and are in favour of NIPS in relation to Down syndrome. They are currently being offered screening in the twelfth week of pregnancy.
Doctor Céline Lewis went on to add that, “the test allows women to have that extra reassurance in pregnancy if their results are negative. If the test is positive, it means they can make an informed choice about what to do next ; further testing is required to verify the results and the information may be valuable as it enables them to choose to either prepare for the birth of an affected child or terminate the pregnancy.“
According to the study, most women opt for the non-invasive test but 10% prefer the invasive method, namely amniocentesis. This could be because the results are known in approximately 3 days with the conventional method compared to around 7 to 10 days with NIPS: “For some people, Dr. Lewis explained, the most important thing is to get the results quickly whilst others do not want to jeopardise the pregnancy“. In fact, amniocentesis is responsible for between 1 and 2% of miscarriages (Ndlr).
Going beyond what is objectively perceived as technical progress, NIPS raises major ethical questions in all countries where it is available or in the process of being made available.
In April 2014, philosopher Danièle Moyse told Gènéthique in an interview : “Obviously, we cannot lament the fact that the improved reliability of tests reduces diagnostic errors resulting in the elimination of a foetus which, without this error, would have led to a birth! But this is precisely where the system seems so perverse: we are encouraged to applaud the introduction of these tests in order to preserve children to be born! But when we welcome the preservation of “healthy” children, we are pleased with the option not to have “unhealthy” children. It is obvious that the non-invasive test, which is less stressful for women, may be the powerful weapon of an invisible selection process, the risk of which was denounced by Professor Testart as far back as the 1990s.”
Furthermore, with NIPs, Down syndrome could soon no longer be the only disease targeted, thereby paving the way to potential eugenic spin-offs. According to Jean-Marc Costa, whose comments were reported in the Gènéthique press release of 6 March 2014, prenatal diagnosis will develop considerably over the next five years. With total genome sequencing, it will be possible to detect genetic anomalies as well as any predisposition to multi-genetic diseases (diabetes, cancers, etc.).