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Case ReportOpen Access
A Family at Risk of Congenital Adrenal Hyperplasia A Molecular Approach for Prenatal Diagnosis
Ruangvutilert P 
,
Techatraisak K ,
Kanokpongsakdi S
,
Techatraisak K ,
Kanokpongsakdi S The 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.
Key word
: Congenital Adrenal Hyperplasia, Prenatal Diagnosis
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.
Key word
: Congenital Adrenal Hyperplasia, Prenatal Diagnosis
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