Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
ISSN
2191-0251
See all formats and pricing
More options …
Volume 32, Issue 11

Issues

The adjustment of 17-hydroxyprogesterone cut-off values for congenital adrenal hyperplasia neonatal screening by GSP according to gestational age and age at sampling

Xiang Jiang
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Fang Tang
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Yi Feng
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Bei Li
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Xuefang Jia
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Chengfang Tang
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Sichi Liu
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou, P.R. China
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Yonglan Huang
  • Corresponding author
  • Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou 510180, Guangdong Province, P.R. China, Phone/Fax: +86-20-81330406
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2019-10-11 | DOI: https://doi.org/10.1515/jpem-2019-0140

Abstract

Background

Congenital adrenal hyperplasia (CAH) screening is facing great challenges because of a high false-positive rate and a low positive predictive value (PPV). We established and optimized 17-hydroxyprogesterone (17-OHP) cut-off values for CAH neonatal screening using a genetic screening processor (GSP) according to gestational age (GA), birth weight (BW) and age at sampling.

Methods

The 17-OHP concentrations in dried blood spots were measured by time-resolved immunofluorescence and were grouped in terms of GA, BW and age at sampling for 48,592 newborns. The 99.5th percentile was used to set an initial cut-off value as a reference.

Results

Significant differences in 17-OHP concentrations were observed among newborns with different GAs and BWs. A significant difference was observed among different sampling age groups. Finally, we defined new multitier cut-off concentrations based on GA and age at sampling. Application of the new cut-off values resulted in a 30% reduction of the positive rate and a 40% increase of the PPV.

Conclusions

GA, BW and sampling age time influenced the concentrations of 17-OHP. The efficiency of congenital adrenal hyperplasia screening can be substantially improved by adjusting the multitier cut-off value according to GA and age at sampling.

Keywords: age at sampling; birth weight; congenital adrenal hyperplasia; gestational age; neonatal 17-hydroxyprogesterone; neonatal screening

References

  • 1.

    van der Kamp HJ, Wit JM. Neonatal screening for congenital adrenal hyperplasia. Eur J Endocrinol 2004;151(Suppl 3):U71–5.PubMedWeb of ScienceGoogle Scholar

  • 2.

    White PC. Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol 2009;5:490–8.Web of SciencePubMedCrossrefGoogle Scholar

  • 3.

    González EC, Carvajal F, Frómeta A, Arteaga AL, Castells EM, et al. Newborn screening for congenital adrenal hyperplasia in Cuba: six years of experience. Clin Chim Acta 2013;421: 73–8.PubMedWeb of ScienceCrossrefGoogle Scholar

  • 4.

    Olgemöller B, Roscher AA, Liebl B, Fingerhut R. Screening for congenital adrenal hyperplasia: adjustment of 17-hydroxyprogesterone cut-off values to both age and birth weight markedly improves the predictive value. J Clin Endocrinol Metab 2003;88:5790–4.CrossrefPubMedGoogle Scholar

  • 5.

    White PC. Optimizing newborn screening for congenital adrenal hyperplasia. J Pediatr 2013;163:10–2.PubMedCrossrefGoogle Scholar

  • 6.

    Anandi VS, Shaila B. Evaluation of factors associated with elevated newborn 17-hydroxyprogesterone levels. J Pediatr Endocrinol Metab 2017;30:677–81.PubMedWeb of ScienceGoogle Scholar

  • 7.

    Allen DB, Hoffman GL, Fitzpatrick P, Laessig R, Maby S, et al. Improved precision of newborn screening for congenital adrenal hyperplasia using weight-adjusted criteria for 17-hydroxyprogesterone levels. J Pediatr 1997;130:128–33.PubMedCrossrefGoogle Scholar

  • 8.

    van der Kamp HJ, Oudshoorn CG, Elvers BH, van Baarle M, Otten BJ, et al. Cutoff levels of 17-alpha-hydroxyprogesterone in neonatal screening for congenital adrenal hyperplasia should be based on gestational age rather than on birth weight. J Clin Endocrinol Metab 2005;90:3904–7.CrossrefPubMedGoogle Scholar

  • 9.

    Hayashi G, Faure C, Brondi MF, Vallejos C, Soares D, et al. Weight-adjusted neonatal 17OH-progesterone cutoff concentrations improve the efficiency of newborn screening for congenital adrenal hyperplasia. Arq Bras Endocrinol Metabol 2011;55: 632–7.CrossrefGoogle Scholar

  • 10.

    Zhang Q, Wang B, Chen Y, Jiang D, Chen Y. Multicenter investigation on the impact of newborn infants’ gestational age and birth weight on the level of 17α-hydroxyprogesterone. Zhonghua Er Ke Za Zhi 2014;52:706–9.PubMedGoogle Scholar

  • 11.

    Gruñeiro-Papendieck L, Prieto L, Chiesa A, Bengolea S, Bossi G, et al. Neonatal screening program for congenital adrenal hyperplasia: adjustments to the recall protocol. Horm Res 2001;55:271–7.PubMedGoogle Scholar

  • 12.

    Fingerhut R, Torresani T. Evaluation of the genetic screening processor (GSPTM) for newborn screening. Anal Methods 2013;18:4769–76.Google Scholar

  • 13.

    Wang BJ, Chen YP, Ma J. Validation of GSPTM in 17α-OH-progesterone measurement and establishment of the newborn cut-off value in Suzhou city. J Chin Birth Health Hered 2017;26:78–80.Google Scholar

  • 14.

    Hayashi GY, Carvalho DF, de Miranda MC, Faure C, Vallejos C, et al. Neonatal 17-hydroxyprogesterone levels adjusted according to age at sampling and birthweight improve the efficacy of congenital adrenal hyperplasia newborn screening. Clin Endocrinol (Oxf) 2017;86:480–7.CrossrefGoogle Scholar

  • 15.

    Mendoza-Rojas VC, Díaz-Martínez LA, Mantilla-Mora G, Contreras-García GA, Mora-Bautista VM, et al. 17-Hydroxiprogesterone values in healthy preterm infants. Colomb Med (Cali) 2017;48:161–6.PubMedGoogle Scholar

  • 16.

    Al-Nuaim AR, Abdullah MA, Stevens B, Zain M. Effect of gender, birth weight and gestational age on serum 17-hydroxyprogesterone concentration and distribution among neonates in Saudi Arabia. Indian J Pediatr 1995;62:605–9.PubMedCrossrefGoogle Scholar

  • 17.

    Witchel SF. Newborn screening for congenital adrenal hyperplasia: beyond 17-hydroxyprogesterone concentrations. J Pediatr (Rio J) 2019;95:257–9.PubMedCrossrefGoogle Scholar

  • 18.

    Ryckman KK, Cook DE, Berberich SL, Shchelochkov OA, Berends SK, et al. Replication of clinical associations with 17-hydroxyprogesterone in preterm newborns. J Pediatr Endocrinol Metab 2012;25:301–5.PubMedWeb of ScienceGoogle Scholar

  • 19.

    Pauwels G, Allegaert K, Régal L, Meulemans A. Risk factors for elevated levels of 17-hydroxyprogesterone during neonatal intensive care unit admission. Acta Clin Belg 2012;67:88–93.PubMedWeb of ScienceGoogle Scholar

  • 20.

    Tsuji A, Konishi K, Hasegawa S, Anazawa A, Onishi T, et al. Newborn screening for congenital adrenal hyperplasia in Tokyo, Japan from 1989 to 2013: a retrospective population-based study. BMC Pediatr 2015;15:209.PubMedCrossrefWeb of ScienceGoogle Scholar

  • 21.

    Heather NL, Seneviratne SN, Webster D, Derraik JG, Jefferies C, et al. Newborn screening for congenital adrenal hyperplasia in New Zealand, 1994–2013. J Clin Endocrinol Metab 2015;100:1002–8.Web of ScienceCrossrefPubMedGoogle Scholar

About the article

Received: 2019-03-25

Accepted: 2019-08-12

Published Online: 2019-10-11

Published in Print: 2019-11-26


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and have approved its submission.

Research funding: This work was supported by the Guangdong Medical Research Foundation, Funder Id: http://dx.doi.org/10.13039/501100003785 [Grant No.: C201835].

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; the collection, analysis, and interpretation of data; the writing of the report; or the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 11, Pages 1253–1258, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2019-0140.

Export Citation

©2019 Walter de Gruyter GmbH, Berlin/Boston.Get Permission

Comments (0)

Please log in or register to comment.
Log in