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Congenital Diaphragmatic Hernia Associated With Spinal Anomalies

Grethel, Erich J. MD1; Farrell, Jody NP, PNP1; Ball, Robert MD2; Lee, Hanmin MD1; Nobuhara, Kerilyn K. MD1

doi: 10.1097/01.AOG.0000254174.25795.d6
Original Research
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OBJECTIVE: Increased mortality is seen in patients with congenital diaphragmatic hernia who have associated anomalies, such as cardiac defects. We reviewed our series of patients with congenital diaphragmatic hernia and spinal anomalies to evaluate if their prognosis was altered.

METHODS: We examined our institutional database from August 1995 to August 2005, examining 679 cases of congenital diaphragmatic hernia, identifying all fetuses and newborns with congenital diaphragmatic hernia and spinal anomalies. Patients who had both congenital diaphragmatic hernia and spinal anomalies were identified by prenatal ultrasound reports, postnatal radiographs, operative notes, and pathology reports.

RESULTS: Seven patients were identified in the fetal or neonatal period with concomitant diagnoses of congenital diaphragmatic hernia and spinal anomalies. All patients had normal karyotype analysis. Six of these patients had both defects diagnosed using prenatal ultrasonography. All patients died before hospital discharge.

CONCLUSION: Although the numbers are limited in our series, patients with congenital diaphragmatic hernia and spinal anomalies have a dismal prognosis. This finding has significant implications for prenatal counseling.

LEVEL OF EVIDENCE: III

A uniformly fatal outcome in our series of patients with congenital diaphragmatic hernia and spinal anomalies alters prenatal counseling regarding fetuses diagnosed with these conditions.

From the 1Fetal Treatment Center, Division of Pediatric Surgery and the Department of 2Obstetrics and Gynecology, University of California, San Francisco, San Francisco, California.

Corresponding author: Erich Grethel, Fetal Treatment Center, University of California, San Francisco, 514 Parnassus Avenue, HSW-1601, San Francisco, CA 94143-0570; e-mail: egrethel@yahoo.com.

© 2007 The American College of Obstetricians and Gynecologists