Universal carrier screening

All of these issues must be carefully considered as expanded carrier screening moves into routine clinical care. The ACMG recently published a position statement on preconception and prenatal expanded carrier screening in which it listed criteria that must be met by a disorder to be included in a panel (Genet. Med. 2013;15:482-83). Presently, a work group composed of members of the obstetrical, maternal-fetal medicine, pediatric, genetics, and counseling communities is developing practice guidelines to advise the medical community on the use of expanded carrier screening panels.

Dr. Wapner, a professor in the department of obstetrics and gynecology at Columbia University Medical Center, New York, is recognized as an expert in reproductive genetics. He reported that he has no relevant disclosures.