Brianna Murphy

1 month ago | obgyn.onlinelibrary.wiley.com | Mia Hodges |Sally Harris |Brianna Murphy |Kelly Gilmore

Objectives To report a novel prenatal presentation of Loeys-Dietz Syndrome type 1 (LDS1), characterized by severe ventriculomegaly and macrocephaly, associated with a likely pathogenic variant in the TGFBR1 gene. Methods A 31-year-old G4P2012 was referred for fetal ventriculomegaly identified during routine first-trimester ultrasound. Comprehensive fetal evaluation included serial imaging, fetal echocardiography, and whole genome sequencing.