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Congenital Adrenal Hyperplasia
Inheritance patterns and prenatal diagnosis
Inheritance patterns
Autosomal recessive
Prenatal diagnosis
Once an affected child has been diagnosed, genetic testing can be carried out on the parents and patient. Diagnosis can then be done in the fetus by chorionic villus sampling (CVS) at nine to ten weeks gestation. If the mother starts taking the potent steroid dexamethasone as soon as she knows she is pregnant (ideally at four to six weeks gestation) virilisation in an affected female fetus will be prevented or greatly diminished. If CVS at nine to ten weeks shows that the fetus is an unaffected female, or a male (affected or not) then dexamethasone treatment is stopped. Prenatal dexamethasone treatment is controversial because it means exposing (on average) eight fetuses to steroids when only one will benefit. Dexamethasone can cause weight gain and striae (stretch marks) in the mother while the long-term effects of prenatal treatment on the child are unknown. However, the adverse effects of prenatal virilisation are all too well known and prevention is of enormous benefit to the individual concerned.
How is it treated?
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