rarerelated tag: Carrier Screening

A family and medical history examination was crucial in the genetic counseling given a 28-year-old pregnant woman with two previous children with spinal muscular atrophy (SMA), whose standard genetic testing classified her as a non-carrier of the disease, a case study shows.

This case highlights the limitations of standard carrier screening to identify so-called “silent carriers,” supporting referral to a genetic specialist when genetic tests are inconsistent with family and clinical evidence, the researchers noted.

The study, “Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family,” was published in the journal Case Reports in Women’s Health.