Evidence map›Paper›PMID 42634743›Full record

ArticleFrontiers in genetics2026

Clinical application of long-read sequencing in newborn genetic screening for congenital adrenal hyperplasia.

Peiran Zhao, Xiaolong Qiu, Qingying Lin, Ting Huang, Yinglin Zeng, Jinfu Zhou, Liangpu Xu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

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3 · Its place in the literature

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4 · The record

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PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

7 authors.

Peiran Zhao *Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Xiaolong Qiu *Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Qingying LinMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Ting HuangMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Yinglin ZengMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Jinfu ZhouMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.
Liangpu XuMedical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics and Gynecology and Pediatrics, Fujian Medical University, Fuzhou, Fujian, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Screening for congenital adrenal hyperplasia (CAH) relying solely on 17α-hydroxyprogesterone (17α-OHP) presents limited diagnostic performance, highlighting an urgent need to develop more robust screening strategies for neonates. Methods: We conducted retrospective and prospective cohort studies to explore the clinical applicability of long-read sequencing (LRS) in CAH genetic testing within primary and secondary newborn screening (NBS) systems, respectively. The retrospective cohort comprised 100,145 neonates who underwent routine 17α-OHP primary CAH screening at the Fujian Provincial Newborn Screening Center from January 1 to December 31, 2019. Among these infants, 52 full-term screen-positive neonates received further LRS-based CAH genotyping. The prospective cohort enrolled 2,100 newborns recruited from Fujian Maternity and Child Health Hospital between May 1 and May 31, 2023, who underwent simultaneous 17α-OHP measurement and LRS-mediated CAH genetic analysis. Results: In the retrospective cohort, the positive rate of 17α-OHP screening was 0.19% (190/100,145, 95% CI: 0.17%-0.21%), and five infants were definitively diagnosed with CAH, corresponding to a disease prevalence of 1:20,029. LRS genotyping successfully identified five neonates harboring pathogenic Conclusion: LRS-integrated genetic newborn screening exhibits favorable efficacy for CAH identification. This combined screening modality holds great promise for wide implementation in routine neonatal screening practice.

Indexed as

17α-hydroxyprogesteronecongenital adrenal hyperplasiaCYP21A2genetic variationlong-read sequencingnewborn screening

Identifiers

PMID42634743
PMCPMC13500104

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