The Testing Trap

In most cases, the goal of prenatal genetic testing is not the elimination of any disease, says the author. So what is the goal?

By Sheila Gregoire

Molly, still grieving from her son's stillbirth, was devastated to hear that the daughter she was now carrying had a cyst on her brain which could result in miscarriage, early death, or mental incapacity. The doctors recommended abortion, but Molly refused. When Julia was born several months later, she was perfect. Molly had worried for nothing.

Thirty years ago, families didn't face agonies like these. Technology has changed our whole approach to pregnancy and childbearing. Prenatal testing can detect both chromosomal problems (such as Down Syndrome) and structural defects (such as heart problems). In Canada , about 80% of mothers will have ultrasounds, while others may also have maternal serum screening (the blood test performed at three months), amniocentesis, or other tests.

Such testing, though, differs from other medical testing in one simple way: the goal in most cases is not the elimination of any disease; it is instead the elimination of the person who has the disease .

After our second child was born with a heart defect, we were told to return to the Hospital for Sick Children for tests when I was 17 weeks pregnant with our next child. The cardiologist detected a heart defect, but couldn't be certain since our daughter was so small. After spending four agonizing weeks worrying, we returned for another look at 21 weeks, a visit which revealed Katie to be perfectly fine. Afterwards, I asked the cardiologist why we had been asked to come at 17 weeks when he could see so much better at 21? Because, he said, "we have to leave time for the parents to abort if they so choose."

Ultrasounds are timed at 16-18 weeks because the doctors can usually get an accurate picture of the baby (though one performed a few weeks later might be better), but the parents still have time to abort if there's something wrong. Other tests are done early for the same reason.

Thankfully, some conditions can be treated in utero . Bladder blockage, which once led to death in 98% of cases, can now be treated surgically while the baby is still inside the mother. Approximately 80% of these children now survive. Doctors are also experiencing breakthroughs with surgery for spina bifida while in the womb. And last year, doctors in Massachusetts were able to repair a hypoplastic left heart, which our son Christopher died from just six years ago. These medical breakthroughs are marvelous, yet the fact remains that the vast majority of defects are still untreatable.

Life and Death Decisions

There's no doubt that, for parents, ultrasounds can be very exciting. Many of us proudly display our first pictures of our children on our fridges - though these frequently resemble more closely ink blot psychological tests than they do a baby. Ultrasounds can also help us to bond with the baby, and in the vast majority of cases they can calm our fears. When there is something wrong, ultrasounds can be a tool for doctors to decide how to prepare for a baby's birth if it will be medically challenging. Yet too often, the result of such testing is a decision for death.

In 1996, we chose to carry to term Christopher who had Down Syndrome. We were later told that we were the only one of the 25 couples seeing our geneticist that year who opted not to abort a Down's baby. Similarly, the journal Prenatal Diagnosis reported that in one English study, abortions after prenatal testing had led to an 86% reduction in the birth of individuals with neural tube defects.

Parents are even choosing to abort for conditions with no clear-cut outcome. For example, sex chromosome abnormalities are detected in amniocentesis in about .3% of cases, and in one study, 60% of such babies were aborted. Yet though some of these children would have suffered infertility and behavioural problems, nearly all would have had a normal life span, and most would have had normal intelligence levels. People simply do not understand what certain diagnoses mean. So what do parents do when confronted with these choices? Most, today, abort.

Lack of Sympathy for the Disabled

It's hardly surprising, then, that disabilities are becoming viewed not as random occurrences, but as something which can and should be prevented. Melissa Andrew, a medical student writing for the Canadian Medical Association Journal , describes how parents often feel pressure from family, friends, society, and especially their physicians to abort. The life of a disabled person, it seems, is simply not worth living.

Mary Wilt, the mother of a child with Down Syndrome, was devastated to find Internet web sites dedicated to "courageous parents" who made the decision to terminate pregnancies of "defective" children. The unspoken accusation is that those who give birth to these babies are less courageous and less loving than those who kill them.

What will this mean for support systems for parents of the disabled? With health care in Canada in such a state of flux, it is conceivable that health insurance could at some point be denied to parents who choose to have a child whose disabilities were detected in the womb.

Changing Attitudes about Childbearing

Finally, prenatal testing has changed our attitudes towards childbearing. Dr. Stephen Brown, the co-director of the division of clinical genetics at the Columbia-Presbyterian Medical Center in the United States , says, "the average prospective parents [today] think it's their right to have a perfect baby and that physicians can tell if they're going to have a perfect baby. But by and large, we cannot."

Our parents' generation knew that childbirth was the luck of the draw; you pray for a healthy baby, but you may not get one. Everyone faced this chance, and people were prepared, by and large, to accept such a child. Today, when these children are allowed to survive, they're too often seen as burdens. Yet when we fail to acknowledge the humanity in others, we demean life for all. Prenatal testing is a powerful tool; let's make sure we choose to use it for life, and not for death.

Sheila Gregoire is a freelance writer from Belleville, Ontario. When her unborn son, Christopher, was diagnosed with Down Syndrome, she resisted societal pressure to abort.