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How accurate are non-invasive prenatal screening procedures?

| | December 16, 2014
This article or excerpt is included in the GLP’s daily curated selection of ideologically diverse news, opinion and analysis of biotechnology innovation.

In the past few years, “non-invasive” prenatal screening tests have flooded the market, which claim to be able to predict chromosomal abnormalities like the one that causes Down Syndrome with near-perfect accuracy. But a new report has found that these blood tests may be vastly overstating how accurate they are, leading some pregnant people to choose to have abortions after thinking their fetus has been diagnosed with a devastating birth defect.

A report from Beth Daley at the New England Center for Investigative Reporting explores the story of a Rhode Island woman named Stacie Chapman, who very nearly terminated a much-wanted pregnancy at three months after a prenatal blood test called MaterniT21 predicted that her baby probably had Trisomy 18, also known as Edwards Syndrome, a serious chromosomal disorder that can lead to severe birth defects. (The median lifespan for a baby with Edwards is 15 days, and many die long before that.)

Chapman called her husband sobbing when she heard the news, then scheduled an abortion for the following day. Her doctor urged her to wait, and a follow-up test showed that her baby didn’t in fact have Edwards; her son Lincoln Samuel just turned 1 and is perfectly healthy.

That’s because while MaternitT21 and many other prenatal screening tests describe themselves as having a 99 percent detection rate, there’s a very, very big difference between detecting a potential problem and diagnosing it definitively.

To truly diagnose a birth defect, a more invasive procedure like amniocentesis is usually required, a test some pregnant people are reluctant to undergo because it carries a small risk of miscarriage.

Read full, original article: Faulty Prenatal Screening Tests May Lead People to Choose to Abort

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