A family at risk of congenital adrenal hyperplasia: a molecular approach for prenatal diagnosis.

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. The 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.

Charts of Thai fetal biometries: 1. Methodology.

A cross-sectional study was conducted in order to construct new reference charts for Thai fetal biometries that are commonly used in obstetric ultrasound practice. We discussed and illustrated a sound appropriate study design and statistical analysis which lead to more valid results. A total of 621 normal pregnant women between 12-41 weeks of gestation and their fetuses were recruited. Each fetus was measured once at a randomly assigned gestational age specifically for the purpose of this study only. Stepwise linear regression technique was used to model the mean and its standard deviation as functions of gestational age. Goodness of fit and normality of the data were checked before the final models were chosen. Reference centiles were derived, taking into account the increasing variation as pregnancy proceeds. We demonstrated the stated technique with humerus data from the same study. Reference charts for other fetal biometries have been derived and are presented in subsequent papers.