Boulton T J, Craig I H, Hill G
Acta Paediatr Scand. 1979 May;68(3):363-70. doi: 10.1111/j.1651-2227.1979.tb05021.x.
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 greater than 95th percentile, and 373 control group children (cord TC and/or LDL-C less than 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 greater than or equal to 0.05%; false positive rate greater than or equal to 3.7%. Four control-group children were HC and had an HC parent; false negative rate greater than or equal to 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.
一项前瞻性随访研究对2000例连续活产儿中根据脐血总胆固醇（TC）和低密度脂蛋白胆固醇（LDL-C）水平挑选出的婴儿进行了研究，以重新评估脐血筛查在家族性高胆固醇血症（FH）诊断中的作用。血清胆固醇的平均值为（mmol/l ±标准差）：TC，1.83 ± 0.56；LDL-C，0.90 ± 0.49；HDL-C，0.70 ± 0.33；TG，0.38 ± 0.16。117例脐血TC和/或LDL-C大于第95百分位数的婴儿以及373例对照组儿童（脐血TC和/或LDL-C小于第95百分位数）在3至12个月龄时接受了随访。117例中有6例为高胆固醇血症（HC），1名儿童有HC父母：阳性检出率大于或等于0.05%；假阳性率大于或等于3.7%。4例对照组儿童为HC且有HC父母；假阴性率大于或等于1.1%。除了在已知有患病父母的儿童中检测FH外，脐血筛查对于FH的诊断似乎不可靠。
