Congenital diaphragmatic hernia

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).