Prenatal diagnosis and perinatal outcome of 38 cases with congenital diaphragmatic hernia: 8-Year experience of a tertiary Brazilian Center

Rodrigo Ruano, Victor Bunduki, Marcos Marques Silva, Carlos Tadashi Yoshizaki, Uenis Tanuri, João Gilberto Macksoud, Marcelo Zugaib

Research output: Contribution to journalArticle

22 Scopus citations


PURPOSE: To evaluate the perinatal results for neonates with congenital diaphragmatic hernia diagnosed prenatally. METHOD: We reviewed data from 38 cases of congenital diaphragmatic hernia diagnosed prenatally from January 1995 to December 2003 in the Fetal Medicine Unit of the Department of Obstetrics and Gynecology, São Paulo University Medical School. The main data analyzed were gestational age at diagnosis, fetal karyotyping, side of diaphragmatic defect, presence of associated structural malformations, hepatic herniation, and severe mediastinal shift. Perinatal outcomes were obtained by reviewing hospital documents or by directly calling the patients' immediate relatives. RESULTS: Mean gestational age at diagnosis was 29 weeks (range, 16-37 weeks).Thirty (79%) cases had a left diaphragmatic defect and 8 (21%) had a right lesion. Associated structural malformations were observed in 21 (55%) cases, in which 12 fetuses had a normal karyotype and 9 had chromosomal abnormalities. Isolated congenital diaphragmatic hernia was confirmed in 17 (45%) cases. The overall perinatal mortality rate was 92%. Rates of fetal deaths, early neonatal deaths, late neonatal deaths, and survival were 42%, 50%, 0%, and 8%, respectively, in cases with associated structural malformations but normal karyotyping; 56%, 44%, 0%, and 0% for cases with chromosomal abnormalities; and, 0%, 76%, 12%, and 12% in cases with isolated congenital diaphragmatic hernia. The neonatal mortality rate was 89% in cases with isolated congenital diaphragmatic hernia. CONCLUSION: Perinatal mortality was very high in prenatally diagnosed cases of congenital diaphragmatic hernia. Earlier perinatal deaths are associated with the presence of other structural defects or chromosomal abnormalities. In cases of isolated congenital diaphragmatic hernia, mortality is related to the presence of herniated liver, right-sided lesion, and major mediastinal shift.

Original languageEnglish (US)
Pages (from-to)197-202
Number of pages6
Issue number3
StatePublished - Jul 19 2006
Externally publishedYes



  • Congenital diaphragmatic hernia
  • Fetal malformation
  • Neonatal mortality
  • Prenatal diagnosis
  • Ultrasound

ASJC Scopus subject areas

  • Medicine(all)

Cite this