Prenatal diagnosis of homozygous familial hypercholesterolemia: Investigation of a case at risk

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Abstract
Cultivated amnion cells obtained from a pregnancy at risk for the homozygous form of familial hypercholesterolemia were analyzed, as were fibroblasts from normal, heterozygous and homozygous controls. Acetate incorporation into the cellular 3.beta.-OH-sterol fraction, LDL[low density lipoprotein]-binding to the cell surface receptor and oleate incorporation into the cholesterylester pool of the cells after addition of LDL to lipoprotein-deficient growth medium were employed to compare their diagnostic value. The best discrimination between normal, heterozygous and homozygous cells was achieved using the 3rd technique. On the basis of the acetate incorporation analysis, the child is not homozygous, but probably completely unaffected. This diagnosis was confirmed by repeated determinations of plasma cholesterol levels during the 1st 11 mo. of life. These investigations further substantiated the speculation that prenatal diagnosis of this disorder was possible.