Down syndrome families worry about new prenatal tests
Sue Robins remembers well the excitement before the birth of her third child. The Edmonton mother -- who describes herself as "a bit of a granola" -- chose natural childbirth and no prenatal genetic testing. There wouldn't be any point, she reasoned: it wouldn't affect her pregnancy's outcome.
Her doctors gave her baby a clean bill of health and sent her home within hours of the birth. But that evening, after staring at her son for hours, Robins went over to her computer and typed in two words: "Down syndrome."
Even with her early suspicions, when test results confirmed that Robins' son had Trisomy 21, the most common form of Down syndrome, the news still came as a shock.
"It was a dark and difficult time," she says in an interview. "There's certainly grief. Because the baby you had expected is not the baby you got."
Eight years later, Robins says her son Aaron is an engaged, social child, who's keeping up with his peers in his Grade 2 class.
"It might be surprising to people, but our family has gone on. Life does go on. We're still a family," she says.
While Robins is comfortable with the choices she made, others have not always been. Robins says she's actually had strangers walk up to her and ask her why she didn't do prenatal testing. It's happened twice and both times, it left her stunned and on the brink of tears.
"It's such a hurtful thing to ask that. It makes me wonder, 'Why are you asking me that?' What I hear is: Why is my son even alive?" she says.
Orleans, Ont. mom Lillian Koerner did opt for prenatal testing but also wasn't prepared for the shock of a positive test for Down syndrome.
"We were devastated," she says in an interview from her home. "Once the confirmation came, we were scared. We were scared. And we were grieving."
After her diagnosis, Koerner says she and her husband were left to decide on their own what to do next. They never really considered terminating the pregnancy, especially after seeing her baby moving during the ultrasound test and amniocentesis.
Koerner now worries about what a simpler, less invasive test that could be introduced to the market as early as a few years from now could mean for other prospective parents grappling with the same decisions she had to make.
The new test would be able to identify Down syndrome using only a sample of blood drawn from the mother's arm. Researchers recently reported that a clinical study had found the test highly accurate.
Many have expressed excitement about the new blood test , noting it would be much less invasive than the current amniocentesis test, which involves drawing a sample of amniotic fluid -- a procedure that carries a 1 per cent risk of sparking a miscarriage.
The new test can also be performed early in the pregnancy, instead of the 2nd trimester, when amniocentesis tests are typically performed.
Koerner wonders whether a faster, earlier test is better.
"To have earlier screening when there might be less connection is…," she says trailing off, before adding: "I worry that if the screening comes earlier [in the pregnancy], it might be too easy to say, ‘Oh well, we'll try again.'"
Dr. Kerry Bowman, a bioethicist at the University of Toronto Joint Centre for Bioethics and at Mount Sinai Hospital, agrees that the blood test raises a number of ethical issues.
"You're decreasing the risks to the unborn child with this less-invasive test, so that's an advancement. The concern for me would be that people would get the information more quickly and make decisions that aren't fully thought through," he tells CTV.ca.
"They might have quick reactions and feel compelled to make quick decisions. ‘Down syndrome, that's an abnormality. That's not right.' And those first thoughts are perfectly valid. But the concern is: How balanced would that decision be?"
Both Robins and Koerner admit they knew almost nothing about Down syndrome before it became part of their families, and most of what they thought they knew turned out to be wrong.
They agree that what prospective parents need is not just the option of safer and easier prenatal testing, but clear and unbiased information from their doctor about the realities of life with a child with Down syndrome.
"The news needs to be conveyed in a neutral way," says Robins. "Doctors need to put their values aside. They need to present all the options available in an objective way. And they need to offer support and a chance to talk with other families with Down syndrome, to learn what life is really like."
Termination rate high
Down syndrome affects about one in about 700 or 800 births, according to Kirk Crowther, the executive director of the Canadian Down Syndrome Society. Interestingly, that rate has remained fairly steady since 1980 -- even as the average age of first-time mothers has risen steadily. (Advanced maternal age is a key risk factor for Down syndrome, though the chromosomal anomaly canm also occur in babies born to younger mothers.)
Research done in the U.S. by well-known pediatric geneticist Dr. Brian Skotko suggests the rate of Down syndrome births should have risen in the U.S. between 1989 and 2005 by 34 per cent in the absence of prenatal testing. Instead, it fell 15 per cent -- representing a 49 percentage point difference.
Increased prenatal testing and pregnancy termination are thought to explain the numbers.
In fact, it's estimated that the majority of parents choose to end pregnancies diagnosed with Down syndrome. Precisely how many isn't clear; since no one keeps track of the reasons behind medical terminations.
Skotko estimates the termination rate is as high as 92 per cent. Crowther believes it's closer to 80 to 90 per cent.
"We just don't know for sure. What we do know is that approximately 500 babies are born with Down syndrome each year in Canada," he says.
Crowther says his group is not opposed to the new genetic tests per se, but believes that the primary goal of the testing should not be to cut the number of Down syndrome births.
"We believe that the widespread use of genetic screening for the purpose of identification and termination of fetuses with Down syndrome ... threatens the diversity and vitality that people with Down syndrome and other disabilities currently contribute to many Canadian communities," the group's website reads.
'Weeding out' the less-than-perfect?
Bioethicist Bowman worries that simple blood tests such as the one on the horizon for Down syndrome is just the beginning of more such genetic tests to come, and wonders whether we are trying to "weed out" those with birth abnormalities.
"And is Down syndrome truly an abnormality that needs to be stopped, or it just a variation of humanity?" he wonders.
Robins points out that Down syndrome is not a degenerative disease, and that people with the condition often can go to school with other kids, get jobs, and lead full active lives.
"It certainly wasn't the end of our life. And Aaron has shown us many things in our life we're grateful for. His Down syndrome is part of who he is," she says.
"I just wish people weren't as scared of Down syndrome as they are."