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Baby’s DNA in Mom’s Blood: Noninvasive Prenatal Testing

Until recently, the moment of birth was a surprise. We anxiously awaited the obstetrician’s announcement: “It’s a boy!” or “It’s a girl!” Then we checked to see if any crucial parts were missing and we counted the fingers and toes. We had to wait for a baby to be born before we could know its sex and whether it was normal. Today, thanks to prenatal testing, we can know the sex of a fetus, diagnose a number of genetic abnormalities and malformations, and we can even operate on the fetus in utero to correct certain problems before birth. I had amniocentesis for my two pregnancies because of the higher risk of Down syndrome at my age (37 and 39). It was reassuring to know the baby didn’t have Down syndrome, and it was fun for my husband to point to my burgeoning belly and introduce it to people as “our daughter Kristin.”

Amniocentesis is invasive, carries risks, and can’t be done until the 15th to 20th week of pregnancy. Now there is a safe, noninvasive, accurate blood test that can be done as early as the 9th week. It analyzes cell-free fetal DNA (cfDNA) circulating in the mother’s blood. It sounds ideal, but there are some caveats. It’s not yet appropriate to recommend it to all pregnant women. An editorial in The New England Journal of Medicine expressed concern that pressures are promoting diffusion of cfDNA testing beyond the boundaries of available evidence. (more…)

Posted in: Diagnostic tests & procedures, Obstetrics & gynecology

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