SEARCHCOHORTpediatrics, epidemiology

cohort·pediatrics, epidemiology, public health, pediatric ophthalmology, observational study·PMC10021976

A retrospective analysis of MS/MS screening for IEM in high-risk areas

BMC Medical Genomics · 8 authors, 4 centres

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TL;DR

The primary screening had a positivity rate of 8.78%.

Full summary

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The primary screening had a positivity rate of 8.78%. All 8 diagnosed infants received treatment and were followed for 2 years, with normal intelligence and growth reported. The study identifies a higher IEM prevalence in Nanning compared to several other regions in China.

STUDY TYPE

cohort

SPECIALTY

pediatrics

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AI pipeline

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100% · A

ORIGINAL PAPER

PMC10021976

A retrospective analysis of MS/MS screening for IEM in high-risk areas

BMC Medical Genomics

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ABSTRACT

Abstract Inborn errors of metabolism (IEM) can lead to severe motor and neurological developmental disorders and even disability and death in children due to untimely treatment. In this study, we used tandem mass spectrometry (MS/MS) for primary screening and recall of those with positive primary screening for rescreening. Further diagnosis was based on biochemical tests, imaging and clinical presentation as well as accurate genetic testing using multi-gene panel with high-throughput sequencing of 130 IEM-related genes. The screening population was 16,207 newborns born between July 1, 2019, and December 31, 2021. Based on the results, 8 newborns were diagnosed with IEM, constituting a detection rate of 1:2,026. Phenylketonuria was the most common form of IEM. In addition, seven genes associated with IEM were detected in these eight patients. All eight patients received standardized treatment starting in the neonatal period, and the follow-up results showed good growth and development. Therefore, our study suggests that MS/MS rescreening for IEM pathogenic variants in high-risk areas, combined with a sequencing validation strategy, can be highly effective in the early detection of affected children. This strategy, combined with early intervention, can be effective in preventing neonatal morbidity and improving population quality. Keywords: Inborn errors of metabolism, Newborn screening, Tandem mass spectrometry, Genetic testing, Sequencing

CITATION EXPORT

Xiao He, Juan Kuang, Jiahong Lai et al.. A retrospective analysis of MS/MS screening for IEM in high-risk areas. BMC Medical Genomics. (2023). https://doi.org/10.1186/s12920-023-01483-1

AUTHORS

8 · 4 CENTRES

Xiao He, Juan Kuang, Jiahong Lai, Jingxiong Huang, Yijin Wang, Guofeng Lan, Yingjun Xie, Xuekai Shi

1Department of Pediatrics, The Second Nanning People’s Hospital, Nanning, 530031 Guangxi China
2Department of Clinical Medicine, The Third Clinical School of Guangzhou Medical University, Guangzhou, 511436 Guangdong China
3Department of Obstetrics and Gynecology, Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150 Guangdong China
4Guangdong Provincial Key Laboratory of Major Obstetric Diseases, The Third Affiliated Hospital of Guangzhou Medical University, Guangzhou, 510150 Guangdong China