Prenatal diagnoses and outcomes of congenital diaphragmatic hernia

To describe the prenatal diagnoses and clinical outcomes of congenital diaphragmatic hernia (CDH).

A retrospective case series was developed by reviewing 16,983 ultrasounds performed between March 2003 and January 2006 for the prenatal diagnosis of CDH. Medical records of each mother/infant pair were reviewed for demographic information, ultrasound findings, obstetric management, and outcomes.

Nineteen fetuses were diagnosed with CDH. Only one was lost to follow-up. Median gestational age at diagnosis was 28.4W (range 17.6-36.6). Fifteen cases (79%) were left sided, 3 (16%) were right-sided, and 1 (5%) was bilateral. Seven fetuses (39%) had additional abnormalities, the most common being a single umbilical artery. Ten patients (52.6%) underwent amniocentesis for karyotype; none were aneuploid. Three patients developed hydramnios. All 18 infants were liveborn. Seven infants (39%) died shortly after birth, 6 (33%) underwent surgery with subsequent discharge, and 5 (28%) were transferred to another center. Three of these died after transfer.

Prenatal diagnosis of CDH portends a poor prognosis. Thirty-nine percent of infants with this diagnosis (7/18) did not survive to undergo surgery or transfer to another facility and overall mortality was 56% (10/18). Targeted ultrasonography, extensive counseling of parents, and delivery at a tertiary care center is recommended.