Li Ao-Yu, Zhu Bao-Sheng, Zhang Jin-Man, Chan Ying, Lin Jun-Yue, Zhang Jie, Zhou Xiao-Yan, Chen Hong, Li Su-Yun, Feng Na, Zhang Yin-Hong
Department 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.
Zhongguo Dang Dai Er Ke Za Zhi. 2025 Jun 15;27(6):654-660. doi: 10.7499/j.issn.1008-8830.2412134.
To evaluate the application value of genetic newborn screening (gNBS) in the Yunnan region.
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.
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 (21.29%), (7.27%), (6.14%), (3.63%), (3.33%), (3.03%), (2.94%), (2.90%), (2.73%), and (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 (<0.05). DeLong's test showed that the area under the curve for gNBS and gNBS+tNBS was higher than that for tNBS (<0.05).
gNBS can expand the range of disease detection, and its combined use with tNBS can significantly shorten diagnosis time, enabling early intervention and treatment.
评估基因新生儿筛查（gNBS）在云南地区的应用价值。
进行一项前瞻性研究，随机选取2021年2月至12月在云南地区出生的3001名新生儿。采用传统新生儿筛查（tNBS）检测生化指标，并采用靶向二代测序技术筛查与156种疾病相关的159个基因。筛查阳性的新生儿接受验证和确诊试验，确诊病例接受标准化治疗和长期随访。
在3001名新生儿中，166名（5.53%）基因筛查初筛阳性，1435名（47.82%）为基因携带者。变异频率最高的前十个基因分别为（21.29%）、（7.27%）、（6.14%）、（3.63%）、（3.33%）、（3.03%）、（2.94%）、（2.90%）、（2.73%）和（2.68%）。在tNBS和gNBS初筛阳性的新生儿中，分别有33例（1.10%）和47例（1.57%）确诊。使用gNBS+tNBS共确诊48例（1.60%）。受试者工作特征曲线分析表明，tNBS、gNBS和gNBS+tNBS在疾病诊断中的曲线下面积分别为0.866、0.982和0.968（<0.05）。DeLong检验表明，gNBS和gNBS+tNBS的曲线下面积高于tNBS（<0.05）。
gNBS可扩大疾病检测范围，与tNBS联合使用可显著缩短诊断时间，实现早期干预和治疗。
