A Family at Risk of Congenital Adrenal Hyperplasia: A Molecular Approach for Prenatal Diagnosis

PORNPIMOL RUANGVUTILERT, M.D., Ph.D.*, KITIRA T TECHATRAISAK, M.D., Ph.D.*, SUJIN KANOKPONGSAKDI, M.D.*

Affiliation : * Department of Obstetrics and Gynecology, Faculty of Medicine Siriraj Hospital, Mallidol University, Bangkok 10700, Thailand.

AbstractThe molecular method for prenatal diagnosis in the first trimester was carried out on the second and third pregnancies of a family at risk of congenital adrenal hyperplasia (CAH). The first child, an 8-year-old daughter, was affected. The molecular and cytogenetic prenatal diagnosis on the second pregnancy revealed that the fetus which was a female had been affected. The pregnancy was then terminated. The, couple presented with the third pregnancy at 8 weeks' gestation. The same approach revealed that the fetus, a male, was affected. TI1e couple opted for continuation of pregnancy which was on-going at the time of the manuscript preparation. To our knowledge, this is the first family in Thailand who had molecular approach for prenatal diagnosis of CAH. This approach allows early information about the fetal status of the disease and, together with the result of fetal gender, will help early decision making in pregnancy management.

Keywords : Congenital Adrenal Hyperplasia, Prenatal Diagnosis

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