Proposal for standardized prenatal ultrasound assessment of the fetus with congenital diaphragmatic hernia by the European reference network on rare inherited and congenital anomalies (ERNICA)

Prenat Diagn. 2018 Aug;38(9):629-637. doi: 10.1002/pd.5297. Epub 2018 Jul 23.

Abstract

Congenital diaphragmatic hernia is a rare disease associated with high mortality and morbidity. Antenatal ultrasound screening identifies more than 70% of cases, providing the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management. Additional genetic and morphologic assessment may be used to rule out associated anomalies. In isolated cases, the outcome may be predicted prenatally by medical imaging. The combination of lung size and liver herniation is a widely accepted method to stratify fetuses into groups with an increasing degree of pulmonary hypoplasia and corresponding mortality rates. Ultrasound measurement of the observed to expected lung-to-head ratio (o/e LHR) is most widely used. The o/e LHR is an independent predictor of survival and short-term morbidity. Finally, evaluation of stomach position has recently been introduced as an indirect method to estimate severity of the disease in left-sided defects, as it has been shown to correlate with the proportion of intrathoracic liver. Herein, we propose a protocol for the standardized ultrasound assessment of fetuses with isolated CDH and individualized prediction of neonatal outcome.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Europe
  • Female
  • Genetic Testing
  • Hernias, Diaphragmatic, Congenital / diagnostic imaging*
  • Hernias, Diaphragmatic, Congenital / genetics
  • Humans
  • Liver / diagnostic imaging
  • Liver / embryology
  • Lung / diagnostic imaging
  • Lung / embryology
  • Magnetic Resonance Imaging
  • Pregnancy
  • Pregnancy Outcome
  • Rare Diseases / diagnostic imaging
  • Rare Diseases / embryology
  • Reference Values
  • Stomach / diagnostic imaging
  • Stomach / embryology
  • Ultrasonography, Prenatal / methods
  • Ultrasonography, Prenatal / standards*