A multi-center study of biochemical and hotspot gene screening for neonatal genetic metabolic diseases
10.3760/cma.j.cn101070-20221105-01261
- VernacularTitle:生化与热点基因筛查新生儿遗传代谢病的多中心研究
- Author:
Guling QIAN
1
;
Jiaxin BIAN
;
Xinwen HUANG
;
Fan TONG
;
Jianbin YANG
;
Dingwen WU
;
Rulai YANG
;
Rui XIAO
;
Zhengyan ZHAO
Author Information
1. 浙江大学医学院附属儿童医院遗传代谢科，国家儿童健康与疾病临床医学研究中心，国家儿童区域医疗中心，杭州 310052
- Keywords:
Neonatal screening;
Genetic metabolic diseases;
Multi-center study;
Biochemical screening;
Gene screening
- From:
Chinese Journal of Applied Clinical Pediatrics
2023;38(1):37-42
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.
