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Association Analysis of Gene Sequencing by NeoSeq Combined with Tandem Mass Spectrum and Four Neonatal Diseases by ShuYuan Xue, JingYing Zhu, HuiYun Zhang, Li Han, RuLai Yang, PengGao Dai, GuiFeng Ding

Background: NeoSeq is a new method of gene sequencing for newborn screening. The goal is to explore the relationship between gene sequencing by NeoSeq combined with tandem mass spectrum (TMS) and four neonatal diseases.
Methods: A total of 1,989 newborns from August 2010 to December 2021 were enrolled. The case number of congenital hypothyroidism, phenylketonuria, adrenocortical hyperplasia, and glucose-6-phosphate dehydrogenase deficiency was counted, and the results of gene sequencing by NeoSeq and TMS were analyzed.
Results: The proportion of male newborns was higher than that of female newborns (51.68% vs. 48.32%). The detection rate of glucose-6-phosphate dehydrogenase deficiency was higher than that of the other three diseases (0.60% vs. 0.05%, 0.05%, 0.15%). A total of 121 newborns were recalled from 1989 newborns by traditional screening technique, and TMS detected phenylketonuria, citrullinemia, glutaric acidemia type I, and 3-methylcro-tonyl-CoA carboxylase deficiency in 1 newborn each. Gene sequencing by NeoSeq of newborns with positive TMS results confirmed the presence of susceptibility genes, and 17 of 1,868 newborns with normal biochemical tests had pathogenic genes.
Conclusions: The incidence of glucose-6-phosphate dehydrogenase deficiency is relatively higher in four neonatal diseases, and the detection rate of gene sequencing by NeoSeq combined with TMS is high.

DOI: 10.7754/Clin.Lab.2023.221208