ArticleCase reports in women's health2022
Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family.
Article in Case reports in women's health, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
backgroundScreening for spinal muscular atrophy (SMA) is recommended for all pregnant women; however, interpreting the results of carrier screening in the context of family history can be challenging. CASE: We report the case of a 28-year-old woman (G4P3001) with two previous children affected with SMA and negative carrier screening via the Horizon 4 panel.
conclusionCarrier screening does not account for family history and can therefore generate results inconsistent with known inheritance patterns. In these situations, additional genetic testing and genetic counseling are indicated to clarify risk for SMA in pregnancy and guide prenatal and neonatal healthcare.
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