Speiser Phyllis W, Chawla Reeti, Chen Ming, Diaz-Thomas Alicia, Finlayson Courtney, Rutter Meilan M, Sandberg David E, Shimy Kim, Talib Rashida, Cerise Jane, Vilain Eric, Délot Emmanuèle C
Division of Endocrinology, Cohen Children's Medical Ctr of New York, Feinstein Institute for Medical Research, Zucker School of Medicine at Hofstra University, New Hyde Park, NY 11040, USA.
Division of Endocrinology, Phoenix Children's Hospital, Phoenix, AZ 85016, USA.
Int J Neonatal Screen. 2020 Jun;6(2). doi: 10.3390/ijns6020037. Epub 2020 May 8.
Newborn screening for congenital adrenal hyperplasia (CAH) caused by 21-hydroxylase deficiency is mandated throughout the US. Filter paper blood specimens are assayed for 17-hydroxyprogesterone (17OHP). Prematurity, low birth weight, or critical illness cause falsely elevated results. The purpose of this report is to highlight differences in protocols among US state laboratories. We circulated a survey to state laboratory directors requesting qualitative and quantitative information about individual screening programs. Qualitative and quantitative information provided by 17 state programs were available for analysis. Disease prevalence ranged from 1:9941 to 1:28,661 live births. Four state laboratories mandated a second screen regardless of the initial screening results; most others did so for infants in intensive care units. All but one program utilized birthweight cut-points, but cutoffs varied widely: 17OHP values of 25 to 75 ng/mL for birthweights >2250-2500 g. The positive predictive values for normal birthweight infants varied from 0.7% to 50%, with the highest predictive values based in two of the states with a mandatory second screen. Data were unavailable for negative predictive values. These data imply differences in sensitivity and specificity in CAH screening in the US. Standardization of newborn screening protocols could improve the positive predictive value.
美国各地都要求对由21-羟化酶缺乏引起的先天性肾上腺皮质增生症（CAH）进行新生儿筛查。采集滤纸血标本检测17-羟孕酮（17OHP）。早产、低出生体重或危重病会导致检测结果出现假性升高。本报告的目的是突出美国各州实验室检测方案的差异。我们向各州实验室主任发放了一份调查问卷，要求提供有关各个筛查项目的定性和定量信息。17个州项目提供的定性和定量信息可供分析。疾病患病率在每9941至28661例活产中有1例。四个州实验室规定无论初始筛查结果如何都要进行二次筛查；其他大多数实验室则对重症监护病房的婴儿进行二次筛查。除一个项目外，所有项目都采用了出生体重切点，但临界值差异很大：出生体重>2250 - 2500克时，17OHP值为25至75纳克/毫升。正常出生体重婴儿的阳性预测值从0.7%到50%不等，其中两个强制进行二次筛查的州预测值最高。阴性预测值的数据无法获取。这些数据表明美国CAH筛查在敏感性和特异性方面存在差异。新生儿筛查方案的标准化可以提高阳性预测值。
