SCREENING OF CORD BLOOD LOW-DENSITY-LIPOPROTEIN CHOLESTEROL IN THE DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA - 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 hypercholesterolaemia (FH). Mean values for serum cholesterol were (mmol/l ± S.D.): TC, 1.83 ± 0.56; LDL‐C, 0.90 ± 0.49; HDL‐C, 0.70 ± 0.33; TG, 0.38 ± 0.16. Seventy‐three of 117 infants who had 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 months. Six of the 117 were hypercholesterolaemic (HC), and one child had an HC parent: positive detection rate ≥0.05%; false positive rate ≥3.7%. Four control‐group children were HC and had an HC parent; false negative rate ≥1.1%. With the possible exception of detecting FH in a child with a known affected parent, cord blood screening appears to be unreliable for the diagnosis of FH. Copyright © 1979, Wiley Blackwell. All rights reserved