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Diaphragmatic Hernia
Inheritance patterns and prenatal diagnosis
Inheritance patterns
There is a recurrence risk of two per cent based on an incidence of 1 in 2,000 live births.
Prenatal diagnosis
Most babies with CDH are diagnosed antenatally on routine scan. If termination is considered, then amniocentesis for chromosomal abnormality should be done, together with a detailed anomaly scan. Polyhydramnios (excess fluid around the baby) and the presence of the stomach in the chest are poor prognostic features. If there are no associated abnormalities, continuation to term is often recommended, as there is a fifty per cent chance of the baby's lungs being adequate.
Antenatal diagnosis allows transfer of the mother for assessment and delivery at a regional centre. The baby can then be electively delivered, resuscitated and undergo surgery, by a fully prepared team of neonatologists and surgeons. Babies are usually delivered normally, though some babies need a caesarian section.
How is it treated?
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