The Association of Prenatal Diagnoses with Mortality and Long-Term Morbidity in Children with Specific Isolated Congenital Anomalies: A European Register-Based Cohort Study

Matern Child Health J. 2024 Jun;28(6):1020-1030. doi: 10.1007/s10995-024-03911-9. Epub 2024 Mar 4.

Abstract

Objectives: To compare 5-year survival rate and morbidity in children with spina bifida, transposition of great arteries (TGA), congenital diaphragmatic hernia (CDH) or gastroschisis diagnosed prenatally with those diagnosed postnatally.

Methods: Population-based registers' data were linked to hospital and mortality databases.

Results: Children whose anomaly was diagnosed prenatally (n = 1088) had a lower mean gestational age than those diagnosed postnatally (n = 1698) ranging from 8 days for CDH to 4 days for TGA. Children with CDH had the highest infant mortality rate with a significant difference (p < 0.001) between those prenatally (359/1,000 births) and postnatally (116/1,000) diagnosed. For all four anomalies, the median length of hospital stay was significantly greater in children with a prenatal diagnosis than those postnatally diagnosed. Children with prenatally diagnosed spina bifida (79% vs 60%; p = 0.002) were more likely to have surgery in the first week of life, with an indication that this also occurred in children with CDH (79% vs 69%; p = 0.06).

Conclusions: Our findings do not show improved outcomes for prenatally diagnosed infants. For conditions where prenatal diagnoses were associated with greater mortality and morbidity, the findings might be attributed to increased detection of more severe anomalies. The increased mortality and morbidity in those diagnosed prenatally may be related to the lower mean gestational age (GA) at birth, leading to insufficient surfactant for respiratory effort. This is especially important for these four groups of children as they have to undergo anaesthesia and surgery shortly after birth. Appropriate prenatal counselling about the time and mode of delivery is needed.

Keywords: Congenital diaphragmatic hernia; Gastroschisis; Prenatal diagnosis; Spina bifida; Transposition of great arteries.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child, Preschool
  • Cohort Studies
  • Congenital Abnormalities / diagnosis
  • Congenital Abnormalities / epidemiology
  • Congenital Abnormalities / mortality
  • Europe / epidemiology
  • Female
  • Gastroschisis / diagnosis
  • Gastroschisis / epidemiology
  • Gastroschisis / mortality
  • Gestational Age
  • Hernias, Diaphragmatic, Congenital / diagnosis
  • Hernias, Diaphragmatic, Congenital / mortality
  • Humans
  • Infant
  • Infant Mortality / trends
  • Infant, Newborn
  • Length of Stay / statistics & numerical data
  • Male
  • Morbidity / trends
  • Pregnancy
  • Prenatal Diagnosis* / methods
  • Prenatal Diagnosis* / statistics & numerical data
  • Registries*
  • Survival Rate