Prenatal test can detect Down syndrome earlier

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 if the baby she was carrying had Down syndrome.

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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 taking 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 might be an alternative -- one that offers accurate results as early as nine weeks into the pregnancy.

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 such complications as 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 difficult challenge

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."

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.

Two California companies, Sequenom Inc. and Verinata Health Inc., hope to offer the test to doctors in the United States by next April. They say it could be done in the first trimester, with Sequenom aiming as early as 10 weeks, and Verinata as early as eight weeks. Results would be available seven to 10 days later. Neither company would discuss its cost.

Leading to more abortions?

Since the new blood test could deliver an answer so early -- before a pregnancy is showing or the baby is kicking -- it might make getting an abortion easier, several observers said. Women haven't bonded so much, and "they wouldn't have to explain to as many people," said Christie Brooks, who moderates an online support group for women who've gotten abortions for medical reasons.

Skotko said he respects that a woman's right to continue or terminate a pregnancy is a personal one for couples. But he's concerned that in the case of Down syndrome, many women may be getting bad information about what having the baby would mean.

"We have a fleet of physicians who are saying they're untrained, unprepared and sometimes knowingly inserting their own personal bias," he said. "How are women today able to make a truly informed decision?"

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Witkowski, who prayed as that needle was slipped into her swollen belly in 2009, got her answer: It was Down syndrome. As her doctor gave her the news, her baby kicked her and "I could see my belly move," she recalled.

Her doctor started talking immediately about abortion, a step Witkowski rejected. She changed doctors and gave birth to Grady in February 2010.