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

Q3 Medicine

中国当代儿科杂志 Pub Date : 2025-06-15 DOI:10.7499/j.issn.1008-8830.2412134

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, Yin-Hong Zhang

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引用次数: 0

Abstract

Objectives: To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region.

Methods: A 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.

Results: Among 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 GJB2 (21.29%), DUOX2 (7.27%), HBA (6.14%), GALC (3.63%), SLC12A3 (3.33%), HBB (3.03%), G6PD (2.94%), SLC25A13 (2.90%), PAH (2.73%), and UNC13D (2.68%). Among the initially positive newborns from tNBS and gNBS, 33 (1.10%) and 47 (1.57%) cases were confirmed, respectively. A total of 48 (1.60%) cases were confirmed using gNBS+tNBS. The receiver operating characteristic curve analysis demonstrated that the areas under the curve for tNBS, gNBS, and gNBS+tNBS in diagnosing diseases were 0.866, 0.982, and 0.968, respectively (P<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (P<0.05).

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

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[云南地区3 001例新生儿遗传筛查及随访结果]

目的：评价新生儿遗传筛查（gNBS）在云南地区的应用价值。方法：采用前瞻性研究方法，随机选择2021年2月至12月在云南地区出生的新生儿3 001例。采用传统的新生儿筛查（tNBS）检测生化指标，采用靶向下一代测序技术筛选156种疾病相关的159个基因。阳性筛查的新生儿接受验证和确认测试，确诊病例接受标准化治疗和长期随访。结果：3 001例新生儿中，基因筛查初检阳性166例（5.53%），基因携带者1 435例（47.82%）。变异频率最高的前10位基因分别是GJB2（21.29%）、DUOX2（7.27%）、HBA（6.14%）、GALC（3.63%）、SLC12A3（3.33%）、HBB（3.03%）、G6PD（2.94%）、SLC25A13（2.90%）、PAH（2.73%）和UNC13D（2.68%）。tNBS和gNBS初始阳性新生儿中，确诊病例分别为33例（1.10%）和47例（1.57%）。gNBS+tNBS共确诊48例（1.60%）。受试者工作特征曲线分析显示，tNBS、gNBS、gNBS+tNBS诊断疾病的曲线下面积分别为0.866、0.982、0.968。结论：gNBS可扩大疾病的检测范围，与tNBS联合使用可显著缩短诊断时间，有利于早期干预和治疗。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

中国当代儿科杂志 Medicine-Pediatrics, Perinatology and Child Health

CiteScore

1.50

自引率

0.00%

发文量

5006

期刊介绍： The Chinese Journal of Contemporary Pediatrics (CJCP) is a peer-reviewed open access periodical in the field of pediatrics that is sponsored by the Central South University/Xiangya Hospital of Central South University and under the auspices of the Ministry of Education of China. It is cited as a source in the scientific and technological papers of Chinese journals, the Chinese Science Citation Database (CSCD), and is one of the core Chinese periodicals in the Peking University Library. CJCP has been indexed by MEDLINE/PubMed/PMC of the American National Library, American Chemical Abstracts (CA), Holland Medical Abstracts (EM), Western Pacific Region Index Medicus (WPRIM), Scopus and EBSCO. It is a monthly periodical published on the 15th of every month, and is distributed both at home and overseas. The Chinese series publication number is CN 43-1301/R；ISSN 1008-8830. The tenet of CJCP is to “reflect the latest advances and be open to the world”. The periodical reports the most recent advances in the contemporary pediatric field. The majority of the readership is pediatric doctors and researchers.