Betty Pham, Zhuowei Li, Gidsela Luna, Nicole Talaba, Na Zhang, Giangela Stokes, Mark D. Wienhold, Jinhao Xu, Yujuan Su, Rebecca Hernan, Wendy K. Chung, Xin Sun, David J. McCulley
Congenital diaphragmatic hernia (CDH) is a common and severe malformation associated with abnormal lung and pulmonary vascular development. This study investigates GATA4 haploinsufficiency, a common CDH-associated variant linked to higher morbidity and mortality. We establish mechanical compression as the mechanism leading to abnormal lung and pulmonary vascular development, which differs from other CDH-associated variants. Findings support using patient genotype to identify those most likely to benefit from fetal procedures that improve lung growth and survival.