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Open AccessArticle

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

by Phyllis W. Speiser 1,*, Reeti Chawla 2, Ming Chen 3, Alicia Diaz-Thomas 4, Courtney Finlayson 5, Meilan M. Rutter 6, David E. Sandberg 7, Kim Shimy 8, Rashida Talib 1, Jane Cerise 9, Eric Vilain 10, Emmanuèle C. Délot 10 and on behalf of the Disorders/Differences of Sex Development-Translational Research Network (DSD-TRN)
1
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
2
Division of Endocrinology, Phoenix Children’s Hospital, Phoenix, AZ 85016, USA
3
Division of Endocrinology, CS Mott Children’s Hospital, University of Michigan, Ann Arbor, MI 48109, USA
4
Division of Endocrinology, LeBonheur Children’s Hospital, University of Tennessee Health Science Center, Memphis, TN 18103, USA
5
Division of Endocrinology, Ann & Robert H. Lurie Children’s Hospital of Chicago, Northwestern University Feinberg School of Medicine, Chicago, IL 60611, USA
6
Division of Endocrinology, Cincinnati Children’s Hospital Medical Center, University of Cincinnati, Cincinnati, OH 45229, USA
7
Susan B. Meister Child Health Evaluation and Research Center, University of Michigan, Ann Arbor, MI 48109, USA
8
Division of Endocrinology, Children’s National Medical Center, Washington, DC 20010, USA
9
Feinstein Institute for Medical Research, Northwell Health, Manhasset, NY 11030, USA
10
Children’s National Hospital, Children’s Research Institute and George Washington University, Washington, DC 20010, USA
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2020, 6(2), 37; https://doi.org/10.3390/ijns6020037
Received: 31 March 2020 / Revised: 5 May 2020 / Accepted: 6 May 2020 / Published: 8 May 2020
(This article belongs to the Special Issue CAH Screening—Challenges and Opportunities)
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. View Full-Text
Keywords: adrenal hyperplasia; congenital; newborn screening; standardization adrenal hyperplasia; congenital; newborn screening; standardization
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Speiser, P.W.; Chawla, R.; Chen, M.; Diaz-Thomas, A.; Finlayson, C.; Rutter, M.M.; Sandberg, D.E.; Shimy, K.; Talib, R.; Cerise, J.; Vilain, E.; Délot, E.C.; ., on behalf of the Disorders/Differences of Sex Development-Translational Research Network (DSD-TRN); Newborn Screening Protocols and Positive Predictive Value for Congenital Adrenal Hyperplasia Vary across the United States. Int. J. Neonatal Screen. 2020, 6, 37.

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