SCREENING OF CORD BLOOD LOW‐DENSITY‐LIPOPROTEIN CHOLESTEROL IN THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLAEMIA: A STUDY OF 2000 INFANTS

Abstract

A prospective follow-up study of infants selected by cord blood total cholesterol (TC) and low-density-lipoprotein cholesterol (LDL-C) levels from 2000 consecutive live births was undertaken to reassess the role of cord blood screening in the diagnosis of familial hypercholesterolemia (FH). Serum cholesterol had mean values (mmol/l .+-. SD): TC, 1.83 .+-. 0.56, LDL-C, 0.90 .+-. 0.49; HDL-C, 0.70 .+-. 0.33; TG [thioguanine], 0.38 .+-. 0.16. Of 117 infants, 73 who had a cord TC and/or LDL-C > 95th percentile, and 373 control group children (cord TC and/or LDL-C < 95th percentile) were followed up at age 3-12 mo. Of the 117, 6 were hypercholesterolemic (HC), and 1 child had an HC parent; positive detection rate .gtoreq. 0.05%; false positive rate .gtoreq. 3.7%. Control-group children (4) were HC and had an HC parent; false negative rate .gtoreq. 1.1%. With the possible exception of detecting FH in a child with a known affected parent, cord blood screening appears unreliable for the diagnosis of FH.