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Congenital Diaphragmatic Hernia

 

Definition

Herniation of the abdominal contents into the chest cavity
Incidence 1:2000-5000
Diagnosis Ultrasound features of cystic mass within the chest, peristalsis within the chest, absent stomach bubble and displaced heart (80% left sided hernias)
Gestation at diagnosis 18 weeks onwards
Known chromosomal or genetic association Yes. Chromosomal abnormalities present in 16-37%, also associated mulitple syndromes when found with other abnormalities
Furher investigations Karyotype and Fetal Echocardiography
Differential Diaganosis

Cystic Adenomatoid Malformation (CAM)

Prognosis Poor 60% mortality if isolated, 80% if not isolated
Recurrance risk Low
Research Studies Yes- FETO

 

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