Associated malformations in congenital diaphragmatic hernia cases in the last 15 years in a tertiary referral institute

Ágnes Harmath, Júlia Hajdú, Ákos Csaba, Erik Hauzman, Barbara Pete, Éva Görbe, Anna Beke, Zoltán Papp

Research output: Contribution to journalReview article

23 Citations (Scopus)


This is a review of cases of perinatally diagnosed congenital diaphragmatic hernia (CDH) with associated malformations with regard to time of diagnosis, side of hernia, associated malformations, and outcome. The authors analyzed the data of CDH cases with associated malformations from records of the I. Department of Obstetrics and Gynecology, Semmelweis University Faculty of Medicine, Budapest, between July 1, 1990 and June 30, 2005. The observed period was analyzed in two parts. The pre- and postnatal examinations verified CDH in 100 cases, 71% of which were associated with other malformations. In 52% (37/71) CDH was diagnosed before the 24th week of gestation. The rate of early diagnosed cases doubled in the second period. Ten percent (7/71) of cases were verified postnatally. Between 1990 and 1997, the percentage of right-sided hernia was 6% (2/34) while in the second period it was 19% (7/37). The association with cardiovascular, chest, and craniofacial anomalies doubled in the second period, while association of central nervous system anomalies halved. Chromosome anomalies were verified in four cases. Pregnancy was terminated in 53% (34/64) and 13% (4/30) of newborn infants survived the perinatal period. Intrauterine or intrapartum death occurred in 8% (5/64) of cases. The prevalence of cardiovascular, pulmonary, and craniofacial anomalies doubled, while that of central nervous system malformations decreased. The prevalence of other associated malformations has not changed significantly between the two periods. The improvement of technical facilities and accumulated experience make it possible to identify a higher number of associated malformations before the 24th week of gestation.

Original languageEnglish
Pages (from-to)2298-2304
Number of pages7
JournalAmerican Journal of Medical Genetics, Part A
Issue number21
Publication statusPublished - Nov 1 2006


  • Associated malformations
  • Congenital diaphragmatic hernia
  • Prenatal ultrasound-diagnosis

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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