Case report of pregnancy management and genetic evaluation after negative carrier screening for spinal muscular atrophy in an affected family

• मुख्य लेखकों: Heather M. Lucas (लेखक), Mojirayo A. Sarumi (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: Elsevier, 2022-01-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

Background: Screening 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 wit...