Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States

Abstract

Open AccessArticle
by Phyllis W. Speiser,Reeti Chawla,Ming Chen,Alicia Diaz-Thomas,Courtney Finlayson,Meilan M. Rutter,David E. Sandberg,Kim Shimy,Rashida Talib,Jane Cerise,Eric Vilain,Emmanuèle C. Délot and
Int. J. Neonatal Screen. 2020, 6(2), 37; https://doi.org/10.3390/ijns6020037 - 17 july 2022
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Abstract
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. Full article
(This article belongs to the Special Issue CAH Screening—Challenges and Opportunities)
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