When faced with a prenatal diagnosis of Down syndrome — a 37-week scan showing a hole in her baby’s heart –41-year-old Tracy Seager was urged by doctors to have an abortion.
However, Tracy had been born with a hole in the heart that healed naturally at age 11. She and her partner Brian Lewis refused.
Tracy said that she had “just seen his little face on the scan right in front of me. They made me feel as though his life wasn’t worth living – but I was determined that it would be. … He deserved his life.”
Little Jacob is now four years old. At six months he had surgery to repair the hole in his heart. Doctors predicted that he would be small and grey and gasping for breath. They were wrong. In fact, Tracy says that he is “the most gorgeous loving little boy”. He has even starred in a TV advertisement for McCain’s Oven Chips.
It is wonderful that this courageous couple chose life for their little boy against all the pressure to terminate. However, the vast majority of couples with a similar diagnosis choose abortion under similar pressures, some of them urged to do so right up to birth, and many rely on a screening test despite the fact that a high proportion of these first tests turn out to be wrong.
New York Times journalists surveyed the rapidly expanding field of non-invasive prenatal testing (NIPT) a couple of weeks ago. They found that screening tests for rare disorders are often wrong. For DiGeorge syndrome, positive screening tests are wrong 81 percent of the time. For Cri-du-chat syndrome, the figure is 80 percent; for Wolf-Hirschhorn syndrome, 86 percent; and for Prader-Willi and Angelman syndromes, 93 percent.
“Nonetheless, on product brochures and test result sheets, companies describe the tests to pregnant women and their doctors as near certain,” they wrote. “They advertise their findings as ‘reliable’ and ‘highly accurate,’ offering ‘total confidence’ and ‘peace of mind’ for patients who want to know as much as possible.”
Indignant doctors criticised the article for not distinguishing between screening tests – which only indicate that a condition is possible – and diagnostic tests, which examine whether the condition actually exists. The journalists were just displaying ignorance of elementary statistics, they sniffed.
More realistic was a reader who commented:
“I am a physician with a PhD in Biomedical Informatics. Most patients who receive these tests do not see a maternal fetal medicine doctor or genetic counselor, and no one actually explains that the tests they are receiving are ‘screening’ or ‘diagnostic’. Your opinion that this article does a disservice to patients reflects your unrealistic assumption that most of the doctors ordering these tests are actually communicating effectively with patients (or frankly, even understand the tests themselves). In my experience, they usually aren’t/don’t.”
Pregnant women are seldom in the mood for lectures on Bayesian statistics. And often their family doctor no better informed than they are. If they are dismayed by the news, they are likely to have an abortion.
Sadly, doom-mongering doctors seem to be relying not so much on science regarding the accuracy of the tests, or even on the experience of many outstanding individuals with genetic disorders, and the positive influence they exercise on their families, but on magical powers of prediction tainted by outdated prejudices.
We may have ditched old-fashioned descriptions like “backward”, “mentally deficient” and “mentally subnormal” — but until medical thinking catches up with the reality of Down syndrome we will continue to see terrible discrimination against the chromosomally diverse – to the indifference of the diversity lobby, naturally.
Given that over 90 percent of babies were being aborted even before the introduction of NIPT, we are fast approaching ZDS, the situation boasted of in Iceland – Zero Down Syndrome. Scientists have not found a cure for Down’s, apart from the certain cure of death, but if pre-birth elimination is the answer to sickness and disability, why not develop tests for all health conditions, and then we could triumphantly declare ourselves a disease-free nation?
If anyone wonders why our tolerant society is sliding into chaos, crime, recrimination and hate, they need look no further than the attitudes that have tolerated lethal pre-birth discrimination against the innocent – killing presented as choice when there is no choice at all for the victims.