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Updated: Jun 24, 2026

Transuterine Fetal Tracheal Occlusion Model in Mice

Transuterine Fetal Tracheal Occlusion Model in Mice

Published on: February 5, 2021

Bilateral diaphragmatic defect and associated multiple anomalies.

Leyla Karadeniz¹, Sirin Guven, Enver Atay

¹Department of Pediatrics, Zeynep Kamil Maternity and Children's Research Hospital, Istanbul, Turkey. leylakaradeniz@yahoo.com

Journal of the Chinese Medical Association : JCMA

|March 21, 2009

Summary

Complete bilateral agenesis of the diaphragm is a rare, fatal congenital malformation. This case highlights its association with severe anomalies, emphasizing the critical role of cardiopulmonary function in survival.

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Area of Science:

Medical Genetics
Developmental Biology
Pediatric Surgery

Background:

Congenital diaphragmatic hernia is common, but bilateral diaphragmatic agenesis is exceedingly rare.
This condition is often linked with other significant congenital anomalies, complicating diagnosis and prognosis.

Observation:

A male infant born at 35 weeks presented with severe respiratory distress and died within 2 hours.
Prenatal ultrasound revealed polyhydramnios; autopsy confirmed bilateral diaphragmatic agenesis, pulmonary hypoplasia/agenesis, cardiac defects, and gallbladder agenesis.

Findings:

The infant had bilateral diaphragmatic agenesis, right pulmonary hypoplasia, left pulmonary agenesis, multiple cardiac abnormalities, and gallbladder agenesis.
Cytogenetic analysis revealed a normal male karyotype, ruling out chromosomal abnormalities as the primary cause.

Implications:

Bilateral agenesis of the diaphragm is a life-threatening condition with poor prognosis.
Survival is critically dependent on cardiopulmonary function, making early detection and management crucial.
The co-occurrence of gallbladder and unilateral pulmonary agenesis warrants further investigation into its clinical significance and underlying mechanisms.