——————————————————————————– CONSTABLEVILLE — Genetic testing can tell pregnant women whether their baby has Down syndrome.
It doesn’t tell them what to do about it.
Basically, women have three options: keep the baby, put the baby up for adoption or abort. Pre-natal testing can give families more time to prepare for a child with special needs or to arrange for an adoption. (There’s a six-month waiting list to adopt babies with Down syndrome.) But most women choose abortion.
“Most recent studies suggest 80 to 90 percent of mothers with definitive diagnoses will choose to terminate,” said Dr. Brian Skotko, a resident at Children’s Hospital Boston and Boston Medical Center, who has researched how doctors deliver the Downs diagnosis and has written two books about Down syndrome.
The way doctors tell expectant mothers about the diagnosis probably contributes to the high abortion rate, Skotko said.
Skotko, who has a sister with Down syndrome, surveyed mothers of children with Down syndrome who said that their doctors offered inaccurate, incomplete and even “offensive” information.
“So the provocative question is – are mothers making an informed decision?” Skotko asked. Skotko and Dr. Fred Hirschenfang, medical director for the JUDY Center for Down Syndrome in Hackensack, NJ, spoke on presenting and understanding a prenatal diagnosis of Down syndrome at a conference in May at the Otesaga Resort Hotel in Cooperstown. The conference was sponsored by the Kennedy-Willis Center on Down Syndrome at Pathfinder Village in Edmeston, a residential village and school for people with Down syndrome.
Down syndrome is a genetic disorder in which babies are born with an extra 21st chromosome. It generally causes mild to moderate retardation, distinctive facial features and a higher risk of a host of health problems.
The number of families facing a prenatal diagnosis of Down syndrome will probably increase in the near future.
Two reasons, first, the American College of Obstetrics and Gynecology changed its guidelines in 2007 to recommend that genetic screening be offered to all women, and recommends diagnostic testing for those found to be at high risk.
In the past, the testing was generally only offered to women ages 35 and older because diagnostic testing – amniocentesis and chorionic villus sampling – carry a slight risk of miscarriage and older women face a higher risk of having a baby with Down syndrome.
And researchers are testing a new, risk-free blood test that, according to preliminary results, can diagnose Down syndrome during the first trimester without the risk of miscarriage, presumably convincing more women to undergo testing and allowing for earlier abortions.
No one knows if the test, which could become available over the next several years, would actually lead to more abortions, but Edward Shafer, Pathfinder’s CEO, is worried.
“Over time, we (could) lose a whole element of human diversity,” he said.
For now, advocates say, doctors need to get better at breaking the news to parents.
Rosanne Pesola, director of the Kennedy-Willis Center, recounted the story of a pregnant woman who recently received a prenatal diagnosis of Down syndrome and called the center for information. She said her doctor had, after delivering the diagnosis, asked her when she wanted to schedule an abortion, said.
“And this happens all the time,” Pesola said. “It’s the lack of sensitivity of the message coming across.”
“Let’s be factual, let’s be gentle and let’s be sensitive when we deliver this message to people,” Pesola added.
To do that, Hirschenfang said, doctors must be educated about Down syndrome themselves. They need to talk about the positive aspects as well as the challenges of raising a child with Down syndrome. (more…)