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).
