CAH
zkadhem - 05-08-09 18:59 Bookmark and Share

Young couple have came to see you in the office today. You know them since 7 years. Both of them are healthy with no chronic health problems. 3 years ago they had a baby girl that was diagnosed with CAH.
They want to conceive now and have another baby, yet they are scared to have another baby with the same problem, so they are asking your advice.
How will you manage this issue?

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#1
Re: CAH
harry206 - 05-09-09 01:39

Prenatal testing using amniocentesis or chorionic villus sampling (successful in diagnosing CAH secondary to 21-hydroxylase deficiency and 11-beta-hydroxylase deficiency if a sibling had a known mutation or deletion in a previous pregnancy) ------> Prenatal treatment with 20 mcg/kg/d of dexamethasone divided into 3 doses as soon as the pregnancy is recognized-->Dexamethasone treatment is discontinued if chorionic villus sampling (done at 8-12 weeks' gestation) or amniocentesis (done at 18-20 weeks' gestation) indicates that the fetus is male or if genetic analysis indicates that the fetus is unaffected

#2
Re: CAH
usmlefever3 - 05-09-09 02:21

advise parents for genetic counseling and prenatal diagnosis and treatment accordingly

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