Prenatal diagnosis, imaging, and prognosis in Congenital Diaphragmatic Hernia

Semin Perinatol. 2020 Feb;44(1):51163. doi: 10.1053/j.semperi.2019.07.002. Epub 2019 Jul 30.


Antenatal ultrasound screening identifies more than 60% of Congenital Diaphragmatic Hernia (CDH) cases and provides the opportunity for in utero referral to a tertiary care center for expert assessment and perinatal management. Prenatal assessment of fetuses with CDH has tremendously improved over the past ten years. The outcome may be predicted prenatally by medical imaging and advanced genetic testing. The combination of lung size and liver position determination by ultrasound measurements and MRI are widely accepted methods to stratify fetuses into groups that correlate not only with neonatal mortality but also with morbidity. Notwithstanding this, prediction of persistent pulmonary hypertension of the newborn still needs to be improved.

Keywords: Congenital diaphragmatic hernia; Prenatal diagnosis.

Publication types

  • Review

MeSH terms

  • Abortion, Induced
  • Amniocentesis
  • Comparative Genomic Hybridization
  • Female
  • Fetal Therapies
  • Hernias, Diaphragmatic, Congenital / complications
  • Hernias, Diaphragmatic, Congenital / diagnostic imaging*
  • Hernias, Diaphragmatic, Congenital / genetics
  • Hernias, Diaphragmatic, Congenital / therapy
  • Humans
  • Hypertension, Pulmonary / diagnostic imaging
  • Hypertension, Pulmonary / etiology
  • Imaging, Three-Dimensional
  • Liver / diagnostic imaging
  • Lung / diagnostic imaging
  • Lung / growth & development
  • Magnetic Resonance Imaging
  • Organ Size
  • Pregnancy
  • Prenatal Diagnosis*
  • Prognosis
  • Severity of Illness Index
  • Ultrasonography, Prenatal