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Spinal muscular atrophy (SMA) can result in neonatal morbidity and mortality. As a result, it is important to screen women during or before pregnancy for carrier status of SMA. This literature review, published in Obstetrical & Gynecological Survey, reviews the different types of SMA and their inheritance and guides obstetric providers in interpreting carrier screening results.

The researchers used MEDLINE to find articles and other documents about prenatal genetic testing in addition to SMA and inheritance of SMA. A total of 14 peer-reviewed articles were reviewed, as well as 4 medical society opinions. 

Ultimately, the researchers concluded from their review of the literature that it is imperative that obstetricians offer carrier screening for SMA to all pregnant women, accurately interpret the results, and counsel their patients appropriately [1].


[1] Hopkins, M. K., Dugoff, L., & Kuller, J. A. (2021). Spinal muscular atrophy: inheritance, screening, and counseling for the obstetric provider. Obstetrical & Gynecological Survey, 76(3), 166–169. https://doi.org/10.1097/ogx.0000000000000870

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