Family History Can Be Key in Identifying Silent Carriers of SMA

Family History Can Be Key in Identifying Silent Carriers of SMA

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Family History Can Be Key in Identifying Silent Carriers of SMA

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…

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