Prenatal diagnosis and risk stratification of congenital diaphragmatic hernia

Abstract

Congenital diaphragmatic hernia (CDH) is a rare heterogenous disorder with varying degrees of severity. Infant survival rates in high-income countries are approaching 80% in isolated CDH; however, over 50% will have long-term morbidities. Advanced antenatal imaging, including ultrasound and magnetic resonance imaging, has made it possible to prognosticate severity of CDH and to stratify risk when counseling expectant parents. Risk stratification can also better prepare healthcare teams to enable optimal neonatal management, and provide options for fetal intervention or, where legally permitted, pregnancy termination. Factors that may affect the immediate and long-term prognosis for CDH include prenatal diagnosis, gestational age at detection and delivery, side of the defect, presence of additional structural or genetic abnormalities, defect size, estimation of fetal lung volume, the extent of visceral herniation, and the delivery center’s experience in caring for neonates with CDH. Optimizing the outcome for families and infants begins with an early prenatal diagnosis followed by referral to a diverse and inclusive multidisciplinary center with CDH expertise. Prediction of disease severity is supported by accurate fetal imaging and comprehensive genetic testing, and allows the care team to provide realistic outcome expectations during the counseling of expectant parents of all racial and ethnic backgrounds.