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Guidelines call for limits to whole genome testing for fetuses

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7:00am, May 31, 2018
fetal ultrasound

PEEK INTO THE WOMB While still growing in the womb, a fetus’s full genome can be tested, but the approach should be limited to special cases, three medical groups say.

Decades ago, pregnant women had to wait about 40 weeks before knowing much about their baby. But swiftly moving technology offers increasingly detailed peeks into the womb.

Beyond generating adorable 3-D ultrasounds of scrunched-up faces, researchers can now analyze a fetus’s full genome from a simple blood draw from mom. But these genome-wide prenatal tests are not ready for prime time, three medical organizations argued in a position paper in the January Prenatal Diagnosis.

The method is undoubtedly powerful. Scanning the entire genome can reveal DNA abnormalities that more limited genetic tests might miss. But scientists don’t know enough about the performance of these tests, or their pitfalls, to recommend routine use, wrote representatives from the International Society for Prenatal Diagnosis, the Perinatal Quality Foundation and the Society for Maternal-Fetal Medicine.

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