For over a century, the best way to screen for genetic and chromosomal defects in a developing fetus involved inserting a long needle through a pregnant mom’s abdomen and into the amniotic sac cushioning the growing baby. By removing a small sample of the fluid and performing genetic tests, doctors and parents could detect the presence of defects, including the extra chromosome characteristic of Down syndrome.
Because the procedure requires inserting a needling into the protective amniotic sac, however, studies from the 1970s showed that one in 200 otherwise normal pregnancies ended in miscarriage after amniocentesis.
Researchers at Mount Sinai School Medicine decided to update the statistic, and studied a more contemporary patient population of pregnant women getting amniocentesis to detect Down syndrome. Reporting in the journal Obstetrics and Gynecology, they found that the risk of miscarriage associated with the test was actually lower. Among their 35,000 patients who underwent the screening, the amniocentesis-related miscarriage rate was 0.06%, or one in 1600 pregnancies.
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