Pregnant with her third child at 40, Melanie Perkins McLaughlin, a documentary filmmaker from outside Boston, did what many women in her situation do: after much agonizing, she had her swollen belly pricked by a long needle so her doctor could draw a bit of her amniotic fluid and tell her whether her unborn baby had Down syndrome.
She had a good statistical reason to take the test: 1 in 100 pregnancies in her age group results in Down syndrome. A questionable ultrasound finding had upped her risk to 1 in 5, but that also meant a 4 in 5 chance things were just fine. She went ahead and had the test--and not long after came the call as she shopped at the grocery store telling her the results were positive. McLaughlin abandoned her cart in the dairy aisle and went straight home. She pulled the shades down and climbed into bed. As she sobbed, she could feel the baby whose future was now uncertain moving inside her.
McLaughlin's baby--if she decided to keep it--would come into the world as part of a small but considerable minority. One of every 691 babies born in the U.S. has Down syndrome, and 400,000 people in the country are living with the condition today. Those numbers would be higher if not for prenatal tests. Of parents who learn of a prenatal Down-syndrome diagnosis, small studies have found that 9 of 10 end the pregnancy. In the context of all pregnant women--most of whom don't have a prenatal clue--about 50% of Down-syndrome pregnancies are terminated.
But that figure is likely to climb, thanks to new breakthroughs in prenatal technology. One of the limitations of testing for Down syndrome is that it must be done relatively late in a pregnancy. Amniocentesis isn't typically performed until at least 15 weeks along. Chorionic villus sampling, in which a speck of placenta is removed for analysis, can occur a few weeks earlier. Both carry a scary, if small, risk of miscarriage.
But new blood tests for Down syndrome and other chromosomal disorders are in the pipeline, and some have already been rolled out, including one from Sequenom, a San Diego biotech company, that can be administered as early as 10 weeks--long before a woman is visibly pregnant. A recent study in the journal Genetics in Medicine found that the test, which analyzes fetal DNA that enters the mother's bloodstream via the umbilical cord, identifies 98.6% of Down-syndrome pregnancies. Study author and Brown University professor Jacob Canick hailed the results as a "major step for prenatal diagnosis." Whether or not you agree hinges largely on how you'd feel about raising a child with Down syndrome.
That job is less frustrating than it's ever been. 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."