NEW YORK — The results of the blood test revealed only a risk, but when she saw them, she still threw up. Now she had to find out for sure.
So she lay on her back at a doctor’s office, praying, comforted by her Christian faith and her mother at her side, while a needle was slipped into her belly.
Erin Witkowski of Port Jervis, N.Y., was going to find out whether the baby she was carrying had Down syndrome.
For years, many women have gone through an experience like hers: a blood or ultrasound test that indicates a heightened risk of the syndrome, followed by a medical procedure to make a firm diagnosis by capturing DNA from the fetus.
Usually it is the needle procedure Witkowski had, called amniocentesis, done almost four months or more into the pregnancy. Sometimes it is an earlier test called CVS, or chorionic villus sampling, which collects a bit of tissue from the placenta. Both pose a tiny but real chance for miscarriage, and experts say highly skilled practitioners are not available everywhere.
But by this time next year, there might be an alternative — one that offers accurate results as early as nine weeks into the pregnancy.
Companies are racing to market a more accurate blood test than those available now that could spare many women the need for an amnio or CVS. It would retrieve fetal DNA from the mother’s bloodstream. And the answer could come before the pregnancy is obvious to others. For some women, that might mean abortion is a more tenable choice. For others it could be a mixed blessing.
Nancy McCrea Iannone of Sewell, N.J., gave birth six years ago to a daughter with Down syndrome. She now counsels women going through the same thing.
The time between diagnosis and birth is “an unnatural state,” she said, and “the longer that time period is, the harder it is.”
“All you know is that they have Down syndrome. You’re coping with that diagnosis in a vacuum, without a baby. . . . It’s fear of the unknown; you haven’t met your baby yet. You spend a lot of time worrying.”
That might weigh heavily on women who haven’t decided whether to continue the pregnancy, she said.
Down syndrome slows mental and physical development, and people with it usually show mild to moderate disability in intellect and skills for everyday living. Physically, they often have a flat face with a short neck and smaller hands and feet. They’re at risk for complications like heart defects and hearing problems. Life expectancy is about 60 years.
Most cases are diagnosed after birth now, but if the blood test is widely adopted, it could become chiefly a prenatal event.
A diagnosis before birth can pose a difficult challenge for couples as they decide whether to continue the pregnancy. It is not only about child-rearing but also about what happens as the child grows into an older adult and might need care that the aging parents struggle to provide, said Dr. Mary Norton, a Stanford University professor of obstetrics and gynecology.
Dr. Brian Skotko, a Down syndrome specialist at Children’s Hospital Boston who has written a research paper for doctors on how to deliver a diagnosis, said, “The vast majority of people with Down syndrome and families affirm that their contributions to their communities are significant, and their lives are very valuable.”
Initially, doctors are expected to use the new blood test with women at risk for a Down syndrome pregnancy, such as those older than 35. A negative result would indicate a woman could skip the amnio or CVS; a positive result would suggest she get one done to be sure.
Eventually it might replace the routine screenings offered to all pregnant women.
Two California companies, Sequenom Inc. and Verinata Health Inc., hope to offer the test to doctors in the United States by next April.
Numbers
6,000 Babies born with Down syndrome each year in the United States, or about 1 in every 691 babies
11 percent Drop in Down syndrome births in the U.S. between 1989 and 2006 — a time when it would otherwise be expected to rise 42 percent
