Prenatal sequencing for autism genes could be here soon—along with some ethical questions

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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.

The field is fraught with ethical questions, including whether parents might choose to terminate a pregnancy based on the results. But the researchers note that most of the mutations they found pose serious health risks, which could be treated at birth or in utero.


“I think a lot of people have the misconception that these tests are done to decide whether or not to end a pregnancy,” says Christa Lese Martin, director of the Autism and Developmental Medicine Institute at Geisinger in Lewisburg, Pennsylvania, who was not involved in the studies. “To me, it’s giving information to the families and physicians so they can plan for the whole pregnancy, the birth, and best identify the family’s needs and the baby’s needs.”

Related article:  Why identifying 'autism genes' is so elusive

Together, the two studies, which both appeared in February in The Lancet, identified mutations in 15 fetuses in one of nine autism genes, including TSC2, ANKRD11 and SCN2A.

Read full, original post: Prenatal sequencing for some autism genes may soon be available

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