Of the myriad things that can go awry with pregnancy, Down syndrome is perhaps the best known. In the past year, several new tests have become available to detect the condition prenatally, as early as 10 weeks of pregnancy. Whether these tests are cause for celebration or alarm, however, depends upon what decision you’d make if your unborn baby was diagnosed with Down syndrome.
Now, Massachusetts has become the most recent state to pass legislation requiring doctors to give parents who have the prenatal diagnosis “up-to-date, evidence-based, written information” about the physical, intellectual and developmental outcomes of the chromosomal disorder, and treatment options. Both Virginia and Missouri have similar laws; national legislation was passed in 2008 but remains largely unfunded.
“This wasn’t a pro-life bill, and it wasn’t a pro-choice bill,” says Brian Skotko, co-director of the Massachusetts General Hospital Down syndrome program. “It was a pro-information bill.”
Yet there’s little doubt that the new approach is intended to make a woman think twice before automatically deciding to end her pregnancy. Previous studies have found that as many as 9 of 10 women choose to abort after they learn prenatally that their baby has Down syndrome. More recent scrutiny of data in three states — Maine, Hawaii and California — adjusted the percentage of women who terminate to 74%, according to an analysis published this year in Prenatal Diagnostics. In other words, it is the majority of women who opt to end their pregnancies.
“We knew with these new prenatal tests, there would be an even greater need for parents to have accurate information,” says Maureen Gallagher, executive director of the Massachusetts Down Syndrome Congress (MDSC).
The new law specifies that the reading material given to women after a prenatal diagnosis be compiled from professional medical groups including the National Society of Genetic Counselors and the American College of Obstetricians and Gynecologists, along with local and national Down syndrome organizations. Studies have found that women often report that the information they currently receive is incomplete, inaccurate or offensive.
The latest research suggests that quality of life has improved greatly for many people affected with Down syndrome. In a February TIME magazine story that looked at the implications of new DNA-based tests for the chromosomal abnormality — which is caused by an extra copy of chromosome 21 — I noted:
While half of all babies born with Down syndrome have congenital heart defects, new surgical techniques have made repair relatively routine, extending their average life span from just 25 in 1983 to 60. Thanks to early educational intervention, more and more affected kids are attending mainstream schools. Teens with Down syndrome go to college; 20-somethings get married. “Now is the time to have kids with Down syndrome,” says Amy Julia Becker, author of A Good and Perfect Gift, about life with her daughter Penny, 6, who has Down syndrome. “It is ironic that [earlier screening] is happening at a time when it’s easier to have Down syndrome than ever before.”
On Tuesday, blogger Lauren Warner — mom to Kate, a toddler with Down syndrome — explained why she doesn’t put much faith in what doctors say about the ramifications of prenatal Down diagnoses:
…Truthfully, most doctors don’t even know where to begin — even with the best of intentions. And so they shift their feet, they stick to the text book, they “share the options.” It’s not their fault. They, too, are operating from the same place we were on the day Kate was born — and we focused on the facts. But the “facts” are not where the magic lies.
…What a prenatal diagnosis cannot tell you is what it will feel like to look into those eyes and know: you’re one of the lucky ones.
For many families, though, that’s not the kind of luck they’re looking for. In March, the parents of a 4-year-old Oregon girl with Down syndrome won a $2.9 million lawsuit after doctors failed to diagnose her condition prenatally. Ariel and Deborah Levy — who say they would have ended the pregnancy had they known about the diagnosis — won a “wrongful birth” lawsuit against Portland-based Legacy Health System. “These are parents who love this little girl very, very much,” their attorney, David K. Miller, told an ABC News affiliate. “Their mission since the beginning was to provide for her, and that’s what this is all about.”
Massachusetts’ new law also requires that families receiving a diagnosis be given contact information for First Call, a program of MDSC that links expectant and new parents of children with Down syndrome with families who have affected kids. “We were connected right away with another mom, and that is something I will never forget,” says Rosalie Forster, who learned that her daughter, Hope, had Down syndrome after her birth six years ago.
On Friday, Hope was one of two kids with Down syndrome who sat next to Mass. Gov. Deval Patrick as he signed the bill into law. Hope’s mother had told her she was going to the State House to help people with Down syndrome and to see the “boss of Massachusetts.” The boss gave Hope an official state pen; she gave him a smile.