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Direct Fetal Blood Examination for Prenatal Diagnosis of Homozygous Familial Hypercholesterolemia

Prenatal diagnosis of homozygous hypercholesterolemia was achieved at the 24th week of gestation by analysis of llpld values In a fetal blood sample obtained by a needle guided by ultrasound. These abnormal values were compared to values in blood obtained from normal fetuses at the same stage of gestation. After abortion, the diagnosis was confirmed by measuring LDL receptor activity on flbroblast cultures from a skin biopsy. The main advantages of this procedure over measuring LDL receptor activity on cultured amnlotic cells are Its simplicity and speed.