Analysis of screening results for genetic metabolic diseases among 352 449 newborns from Changsha
10.3760/cma.j.cn511374-20220629-00441
- VernacularTitle:长沙地区352 449例新生儿多种遗传代谢病的筛查结果分析
- Author:
Xia LI
1
;
Ling HE
;
Yuting SUN
;
Xuzhen HUANG
;
Yechao LUO
;
Yujiao LI
;
Shihao ZHOU
;
Yudong ZENG
;
Jun HE
Author Information
1. 湖南师范大学附属长沙市妇幼保健院，区域遗传性出生缺陷防控研究湖南省重点实验室，长沙 410007
- Keywords:
Genetic metabolic disease;
Tandem mass spectrometry;
Newborn screening;
Retrospective analysis
- From:
Chinese Journal of Medical Genetics
2023;40(9):1075-1085
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To retrospectively analyze the screening results for genetic metabolic diseases among newborns from Changsha in order to determine the prevalence of single diseases and their mutational spectrum.Methods:352 449 neonates born from January 2016 to December 2021 in Changsha were subjected to tandem mass spectrometry. Suspected cases were further analyzed by biochemical and genetic testing.Results:Among the 352 449 newborns, 6 170 were positive for the screening, which yielded a positive rate of 1.75%. 5 437 cases were recalled, and 92 were confirmed, with the overall prevalence being 1∶3 831 and positive predictive value of 1.69%. Eighteen genetic metabolic diseases were detected among the 92 children, including 33 amino acid metabolic disorder, among which 20 were phenylalanine hydroxylase deficiency (60.60%). 17 cases had organic acid metabolic disorders, among which 4 were 2-methyl-dehydrogenase deficiency (23.50%). 42 had fatty acid metabolic disorders, among which 27 (64.30%) were primary carnitine deficiency and 12 were short-chain acyl-CoA dehydrogenase deficiency (28.60%). In total 90 genetic variants were identified, with the most common ones including c. 51C>G, c. 1400C>G, c. 760C>T, c. 1031A>G and c. 1165A>G.Conclusion:The common neonatal genetic metabolic diseases in Changsha include primary carnitine deficiency, phenylalanine hydroxylase deficiency and short-chain acyl-CoA dehydrogenase deficiency. The preliminary delineation of mutational spectrum for genetic metabolic diseases in Changsha can facilitate early diagnosis and intervention, so as to improve the quality of newborn population.
