Medical Malpractice
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November 10th, 2005

"New test can identify Down syndrome earlier"

A major study being released in today''s New England Journal of Medicine reports a first-trimester screening test can reliably identify fetuses likely to be born with Down syndrome, allowing the information to be provided to the expectant women much earlier in a pregnancy than current testing allows.

The largest ever conducted study of more than 38,000 U.S. women, the screening method, which combines a blood test with an ultrasound exam, can pinpoint many fetuses with the common genetic disorder 11 weeks after conception. Lead researcher, Fergal D. Malone of the Royal College of Surgeons in Dublin, said the study would have a “big impact on care for women.”

By giving women the ability to make a decision sooner whether to undergo the riskier follow-up testing needed to confirm the diagnosis, screening women before the second trimester also allows those women who might choose to terminate a pregnancy to make the decision when abortions are safer and less traumatic. For women continuing with the pregnancy, an earlier diagnosis can help them emotionally prepare for the baby''s condition.

In order to reflect the latest findings, officials from The American College of Obstetricians and Gynecologists will update its advice. Down syndrome is the most common major chromosomal abnormality, affecting about 5,000 babies in the U.S. every year.

Women are currently offered a blood test about 16 weeks into a pregnancy, and women who test positive can undergo a procedure called amniocentesis to confirm the diagnosis. The newer regimen uses an ultrasound test called the nuchal translucency to measure the thickness of the skin on the back of a fetus''s neck and blood test to measure levels of a protein called pregnancy-associated plasma protein A and a hormone called human chorionic gonadotropin.

The study caused some criticism, as well, from opponents of abortion and those objecting to its potential use to prevent the birth of children with Down syndrome. Malone and others do not believe the approach will result in a greater number of abortions, but it will allow women deciding to terminate the pregnancy a safer and more private experience.

The National Institute of Child''s Health and Human Development funded the $15 million eight-year study.