Is congenital adrenal hyperplasia (CAH) a genetic disorder?
Q: Is congenital adrenal hyperplasia (CAH) a genetic disorder? My baby expired due to a birth defect called congenital adrenal hyperplasia (CAH). The doctors operated and diagnosed it as TERM/SGA, congenital adrenal hyperplasia (salt-losing) with severe crisis. The baby was alive for just one month (15 days in NICU and 15 days with me). I am scared about my next pregnancy. Is it a genetic disease? What should I do for my next baby? My friends suggest that I has to undergo prenatal tests during pregnancy. Please provide more information about this and what should I do for the next baby?
A:Yes, Congenital adrenal hyperplasia is a genetic disease. Ideally the blood or DNA of the affected child should be available for study to find the change in the gene. As this is not possible the mother and father's blood should be examined for finding the change in the gene for CAH. This requires 5 ml of blood in EDTA tube to be sent to the Genetic Lab at Sir Ganga Ram Hospital, if the facility is not available locally where the lady is residing. After the gene changes are found, prenatal diagnosis can be offered at 11 weeks of next pregnancy.