Comfort or conflict: Earlier Down syndrome test

NEW YORK (AP) - 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 if the baby she was carrying had Down syndrome.

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This is the first of a two-part series on prenatal testing and the ethical issues raised by it.

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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’s the needle procedure Witkowski had, called amniocentesis, done almost four months or more into the pregnancy. Sometimes it’s 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 may 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.

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’s not only about child-rearing, but also about what happens as the child grows into an older adult and may need care that the aging parents struggle to provide, says 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.”

Current prenatal screening has already cut into the number of babies born with the syndrome, which now stands at about 6,000 each year in the United States, or about 1 in every 691 babies, says Skotko, who serves on the board of the National Down Syndrome Society. He cites one study that concludes the number of Down syndrome births in the nation dropped 11 percent between 1989 and 2006, a time when it would otherwise be expected to rise 42 percent.

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