Evidence map›Paper›PMID 40583703›Full record

ArticleZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics2025

[Genetic screening and follow-up results in 3 001 newborns in the Yunnan region].

Ao-Yu Li, Bao-Sheng Zhu, Jin-Man Zhang, Ying Chan, Jun-Yue Lin, Jie Zhang, Xiao-Yan Zhou, Hong Chen, Su-Yun Li, Na Feng and 1 more

Abstract readEnglish Abstract
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Article in Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics, 2025. 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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1 · What the graph read from it

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2 · The registry

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3 · Its place in the literature

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4 · The record

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5 · Who and what money

Authors and funding

11 authors.

Ao-Yu LiDepartment of Medical Genetics, Affiliated Hospital of Kunming University of Science and Technology/First People's Hospital of Yunnan Province/NHC Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China/Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Kunming 650032, China.
Bao-Sheng Zhu
Jin-Man Zhang
Ying Chan
Jun-Yue Lin
Jie Zhang
Xiao-Yan Zhou
Hong Chen
Su-Yun Li
Na Feng
Yin-Hong Zhang

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesTo evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region.

methodsA prospective study was conducted with a random selection of 3 001 newborns born in the Yunnan region from February to December 2021. Traditional newborn screening (tNBS) was used to test biochemical indicators, and targeted next-generation sequencing was employed to screen 159 genes related to 156 diseases. Positive-screened newborns underwent validation and confirmation tests, and confirmed cases received standardized treatment and long-term follow-up.

resultsAmong the 3 001 newborns, 166 (5.53%) were initially positive for genetic screening, and 1 435 (47.82%) were genetic carriers. The top ten genes with the highest variation frequency were

conclusionsgNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.

Indexed as

Genetic TestingNeonatal ScreeningChinaFemaleFollow-Up StudiesHumansInfant, NewbornMaleProspective StudiesGeneNewbornNewborn screeningTargeted next-generation sequencingVariant

Identifiers

PMID40583703
PMCPMC12234138

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