Amy Julia Becker with her daughter, Penny, who has Down syndrome.
Perhaps the most important thing you need to know about Melanie Perkins McLaughlin is that she’s not pro-life or pro-choice or pro anything — other than pro-information.
When a distraught pregnant woman phones a Massachusetts hotline for Down syndrome, agonizing over what to do with an unexpected prenatal diagnosis, she will be routed to Perkins McLaughlin, who went through the same awful calculations in 2007. When Perkins McLaughlin learned halfway through her pregnancy that her daughter would have Down syndrome, she nearly decided to end the pregnancy for fear of what it would do to her marriage and her two older children.
As part of her decision-making process, she met with two families, each with a 5-year-old with Down syndrome. One child chattered away and played hide-and-seek with Perkins McLaughlin’s own kids, whom she’d brought along. The other child was non-verbal. Both sets of parents told Perkins McLaughlin, a documentary filmmaker who lives near Boston, that they loved their kids just as they were; even if they could pluck that extra 21st chromosome from each and every cell, they wouldn’t change a thing. “I figured they were saying that,” she recalls, “only because they didn’t have a choice.”
But now, increasingly, parents do. Recent advances in prenatal screening are upending the way pregnant women learn about the genetic makeup of their unborn babies. In October, a San Diego biotech company began offering an exceptionally accurate maternal blood test for Down syndrome that can be administered as early as 10 weeks, long before a woman looks visibly pregnant. A study published last month in the journal Genetics in Medicine found that the DNA-based test, called MaterniT21, identifies 98.6% of Down syndrome pregnancies, with a false-positive rate of 0.2%, an achievement that study author and Brown University professor Jacob Canick hailed as a “major step for prenatal diagnosis.”
MORE: Do All Women Need Genetic Testing Before Pregnancy?
Even without the new test, births of babies with Down syndrome have been decreasing even as they should have been on the rise: they dropped 15% between 1989 and 2005 due to more sophisticated prenatal screening even though increasing maternal age means they should have increased 34%, according to an article published in 2009 in the Archives of Disease in Childhood. Parents of children with Down syndrome are beginning to wonder whether the services and accommodations they’ve fought hard for could fade away if kids like theirs are slowly weeded out of the population. “You want a perfect baby, and the easiest thing to do is to eliminate a child that won’t fit into that mold,” says Theresa Howard, a N.J. ad copywriter who found out after her daughter, Lydia, was born in 2006 that she had Down syndrome.
The most common chromosomal disorder, Down syndrome — also called trisomy 21 because the fetus carries an extra copy of the 21st chromosome — has historically been diagnosed only through amniocentesis or chorionic villus sampling, both invasive procedures that carry a scary, if small, risk of miscarriage. Only 2% of all U.S. pregnant women have those tests, although the percentage can shoot to 60% when women receive questionable screening results or are labeled “high risk” because they’re older than 35. But since most Down syndrome babies are born to younger women, because they’re the ones giving birth most often, the majority of the 6,000 babies born with Down syndrome each year in the U.S. are complete surprises.
Some doctors predict that will change, now that there’s an easy and risk-free way to identify Down syndrome early. Many women who may have been reluctant to risk a miscarriage with other tests are eager to try the new test. “I have been getting emails for months and months from people all over the world,” says Marcy Graham, spokeswoman for Sequenom, the company that developed the MaterniT21 test. “There is so much anxiety around the thought of having a child anyway, and there’s something about having this needle put in their stomach that’s really terrifying.”
Insured women will pay $235 to learn their chances of having a baby with Down syndrome; the test will otherwise cost $1,900.
But with women learning more about the genetic contents of their womb than ever before, a growing number of expectant parents will be faced with wrenching ethical dilemmas when the news is not what they expected. What is the value of a life? What can a person with a disability contribute to humanity? Which disabilities are tolerable and which are not?
MORE: A Blood Test Determines a Baby’s Sex Earlier than Ever. But at What Cost?