Leeds Fetal Medicine Unit Website
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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