[First prenatal diagnosis of familial hypercholesterolemia by a molecular biology technic]

The first prenatal diagnosis for exclusion of homozygous familial hypercholesterolemia by using the so called technique of Restriction Polymorphism Fragment Length (RFLP's) on chorial villus DNA, was performed. The test was used when the mother of a seven-year-old child with homozygous familial hypercholesterolemia, became pregnant. Previous examination of DNA of both parents and of one hypercholesterolemic child, showed a mutation of the gene encoding for the synthesis of LDL-receptor. The comparison between first degree relatives RFLP's and the chorial villus RFLP's, showed the absence of a previously recognized mutation in the foetus. After a normal pregnancy, the child was born and his plasma cholesterol was within the "normal" range.