Previous Article in Journal
Psychological Impact of Newborn Screening for 3-Methylcrotonyl-CoA Carboxylase Deficiency: The Parental Experience
 
 
Search for Articles:
Title / Keyword
Author / Affiliation / Email
Journal
Article Type
 
 
Advanced Search
 
Section
Special Issue
Volume
Issue
Number
Page
 
Journals
IJNS
Volume 11
Issue 4
10.3390/ijns11040116
IJNS-logo
Submit to this Journal Review for this Journal Propose a Special Issue
► Article Menu

Article Menu

share Share announcement Help format_quote Cite question_answer Discuss in SciProfiles
first_page
settings
Order Article Reprints
Font Type:
Arial Georgia Verdana
Font Size:
Aa Aa Aa
Line Spacing:
Column Width:
Background:
This is an early access version, the complete PDF, HTML, and XML versions will be available soon.
Article

Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience

by
Xuefang Jia
,
Ting Xie
,
Xiang Jiang
,
Fang Tang
,
Minyi Tan
,
Qianyu Chen
,
Sichi Liu
,
Yonglan Huang
and
Li Tao
*
Department of Guangzhou Newborn Screening Center, Guangzhou Women and Children’s Medical Center, Guangzhou Medical University, Guangzhou 510180, China
*
Author to whom correspondence should be addressed.
Int. J. Neonatal Screen. 2025, 11(4), 116; https://doi.org/10.3390/ijns11040116
Submission received: 20 October 2025 / Revised: 15 December 2025 / Accepted: 15 December 2025 / Published: 17 December 2025
Versions Notes

Abstract

This study was designed to assess the effectiveness of neonatal congenital adrenal hyperplasia (CAH) screening in Guangzhou, China. A total of 818,417 newborns were screened for CAH by measuring 17-hydroxyprogesterone (17-OHP) concentrations. Cut-off values were stratified based on gestational age (GA) and the timing of sample collection. Neonates with initial positive results (17-OHP ≥ cut-off value) were recalled for a second dried blood spot sample to reassess 17-OHP levels. Confirmatory testing involved biochemical analyses, Sanger sequencing, and multiplex ligation-dependent probe amplification of the CYP21A2 gene. From 2018 to 2024, a total of 40 patients with classical 21-hydroxylase deficiency were identified, including 28 cases (70%) of the salt-wasting form and 12 cases (30%) of the simple virilizing form. The overall incidence of CAH was 1 in 20,653 (95% confidence interval: 1:34,928, 1:14,661). No statistically significant differences in prevalence were observed between sexes or between preterm and full-term infants (p > 0.05). 17-OHP concentrations are influenced by GA and the timing of sample collection. The screening efficiency for CAH could be improved by adopting a multitiered cut-off value system adjusted for GA and collection time.
Keywords: 21-hydroxylase deficiency; congenital adrenal hyperplasia; 17-hydroxyprogesterone; gestational age; collection time; newborn screening 21-hydroxylase deficiency; congenital adrenal hyperplasia; 17-hydroxyprogesterone; gestational age; collection time; newborn screening

Share and Cite

MDPI and ACS Style

Jia, X.; Xie, T.; Jiang, X.; Tang, F.; Tan, M.; Chen, Q.; Liu, S.; Huang, Y.; Tao, L. Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. Int. J. Neonatal Screen. 2025, 11, 116. https://doi.org/10.3390/ijns11040116

AMA Style

Jia X, Xie T, Jiang X, Tang F, Tan M, Chen Q, Liu S, Huang Y, Tao L. Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. International Journal of Neonatal Screening. 2025; 11(4):116. https://doi.org/10.3390/ijns11040116

Chicago/Turabian Style

Jia, Xuefang, Ting Xie, Xiang Jiang, Fang Tang, Minyi Tan, Qianyu Chen, Sichi Liu, Yonglan Huang, and Li Tao. 2025. "Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience" International Journal of Neonatal Screening 11, no. 4: 116. https://doi.org/10.3390/ijns11040116

APA Style

Jia, X., Xie, T., Jiang, X., Tang, F., Tan, M., Chen, Q., Liu, S., Huang, Y., & Tao, L. (2025). Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience. International Journal of Neonatal Screening, 11(4), 116. https://doi.org/10.3390/ijns11040116

Note that from the first issue of 2016, this journal uses article numbers instead of page numbers. See further details here.

Article Metrics

Article metric data becomes available approximately 24 hours after publication online.
Back to TopTop