Carrier Testing-In November 2008, the American College of Medical Genetics issued a new guideline stating that "Because SMA is present in all populations, carrier testing should be offered to all couples regardless of race or ethnicity."
The recommendations further state that carrier testing for SMA should be offered before conception or early in pregnancy and that formal genetic counseling services be made available to anyone requesting testing and to those who are identified as carriers.
Currently, the American College of Obstetrics and Gynecology recommends that carrier screening be offered to patients who request it and have completed genetic counseling, or to individuals with a family history of SMA or SMA-like disease.
Prenatal testing - Testing of a fetus for SMA is done via amniocentesis or chorionic villus sampling (CVS). This is recommended when parents have an affected child or a family history of SMA, when both parents are carriers, or when severe joint contractures are identified on fetal ultrasound
Diagnostic testing - This is recommended for patients with symptoms of SMA
News & Events