Prenatal screening for phenylketonuria in 2 families by trophoblast biopsy

Prenatal diagnosis of phenylketonuria (PKU) is now available owing to restriction fragment length polymorphism (RFLP) of the phenylalanine hydroxylase gene. Biopsies of chorionic villi were carried ou at 11 weeks gestation in 2 families who had previously a child with the classical form of PKU and who were considered informative after DNA studies. Fetal DNA was extracted and studied with restriction enzymes selected according to the study of each family. Hybridization studies suggested that one fetus was affected by the disease and that the second was normal. Termination of pregnancy was carried out in the first case; however, study of the fetus could not be performed. In the second family, the pregnancy resulted in the delivery of a normal child, as shown by normal phenylalanine level at birth.