Prenatal Sequencing for Some Autism Genes May Soon Be Available

Two studies, taken together, imply that sequencing can identify a genetic cause for ultrasound abnormalities in roughly 10 percent of cases.

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Sequencing can identify mutations linked to autism even before a child’s birth—especially in cases where doctors suspect problems, two new studies suggest.

In the studies, scientists sequenced fetal DNA only when ultrasounds revealed atypical development of limbs or other organs, and they gave families only the results that seemed to explain those problems

But there is a real risk that others might use the technique to test for mutations in any fetus—and to relay all the results to parents—without proper oversight, says Ronald Wapner, professor of obstetrics and gynecology at the Columbia Institute for Genomic Medicine, who led one of the studies.

“Not everybody should be doing this; it should be in the hands of people that have expertise,” he says.

Other types of analyses already detect mutations in a fetus: Some detect large DNA segments that are swapped between chromosomes, and others can pick up on missing or duplicated ...

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