Post-mortem findings in fetal and neonatal congenital diaphragmatic hernia

Area of Science:

• Pediatric Surgery
• Neonatalogy
• Medical Research

Background:

• Survival analyses for neonates with congenital diaphragmatic hernia (CDH) can be misleading.
• A significant hidden mortality exists when fetuses with CDH are not included in analyses.

Purpose of the Study:

• To investigate the impact of including non-live births in congenital diaphragmatic hernia (CDH) survival data.
• To identify associated congenital anomalies and compare organ weights in fetuses with CDH.

Main Methods:

• Retrospective review of 70 post-mortem reports of fetuses diagnosed with CDH over 10 years in West Scotland.
• Identification of major congenital anomalies and comparison of heart and lung weights with controls.
• Analysis of antenatal detection rates for CDH in live-born infants.

Main Results:

• Major congenital anomalies were found in 53% of cases (neural tube defects, cardiac, and chromosomal anomalies were most common).
• The antenatal detection rate for CDH in live-born infants was only 17%.
• Infants dying within the first week showed severe pulmonary hypoplasia, but heart weights were normal.

Conclusions:

• Including non-live births is crucial for accurate congenital diaphragmatic hernia (CDH) survival analysis.
• Improved antenatal scanning protocols are necessary to increase the detection rate of CDH.
• Congenital anomalies are frequent in fetuses with CDH, impacting outcomes.