Congenital diaphragmatic hernia

Anna K. Sfakianaki, MD, MPH

Dr Sfakianaki is Associate Professor, Section of Maternal-Fetal Medicine, Department of Obstetrics, Gynecology and Reproductive Sciences,Yale School of Medicine, New Haven, Connecticut.

While uncommon, CDH can cause serious complications and even death. Find out how ultrasound can change the outcome.

Key Points

Ultrasound findings

Other U/S findings that may be associated with CDH include:

Increased nuchal translucency (NT) may be seen in the first trimester.11

Differential diagnoses

Associated anomalies are found in approximately 40% to 60% of live-born infants with CDH, most commonly renal, gastrointestinal (GI), cardiac, and central nervous system anomalies.12,5 In 1 study, only 18% of anomalies were diagnosed antenatally, underscoring the importance of newborn evaluation.4 The rate of associated anomalies is higher in cases of fetal demise, and additional anomalies are found in 95% of such cases.13 Chromosomal anomalies are found in 10% to 20% of cases of CDH, most commonly trisomies 21, 18, and 13.9 A syndromic etiology is found in 10% of cases (Table 1).