Genetic screening and follow-up results in 3 001 newborns in the Yunnan region.
10.7499/j.issn.1008-8830.2412134
- Author:
Ao-Yu LI
1
;
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
Author Information
1. 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.
- Publication Type:Journal Article
- Keywords:
Gene;
Newborn;
Newborn screening;
Targeted next-generation sequencing;
Variant
- MeSH:
Humans;
Infant, Newborn;
Neonatal Screening;
Genetic Testing;
Female;
Male;
Follow-Up Studies;
Prospective Studies;
China
- From:
Chinese Journal of Contemporary Pediatrics
2025;27(6):654-660
- CountryChina
- Language:Chinese
-
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.
