Using Targeted Sequencing to Diagnose Genetic Metabolic Diseases in Newborns
Author Information
Author(s): Lai Guihua, Gu Qiying, Lai Zhiyong, Chen Haijun, Tu Xiangwen, Chen Junkun, Huang Jungao
Primary Institution: Central Laboratory, Ganzhou Maternal and Child Health Hospital, Ganzhou, Jiangxi, China
Hypothesis
This study aimed to evaluate the role of targeted next-generation sequencing (NGS) in the accurate diagnosis of positive samples identified through MS/MS screening.
Conclusion
Targeted NGS technology can serve as a crucial diagnostic tool for neonatal genetic metabolic diseases following MS/MS screening.
Supporting Evidence
- 1,265 infants tested positive for IEM out of 260,915 screened.
- 94.2% of false-positive results from MS/MS were ruled out by NGS.
- 76 genetic variants were identified in 18 genes associated with IEM.
Takeaway
Doctors used a special DNA test to find out if newborns have certain genetic diseases after a first test showed they might. This helps them get the right treatment faster.
Methodology
A cohort study where heel blood samples from newborns were screened using MS/MS, followed by targeted NGS for those with positive results.
Potential Biases
Potential bias due to the exclusion of newborns undergoing emergency surgery or external blood transfusion.
Limitations
The high cost of targeted NGS compared to MS/MS may limit its use in resource-limited areas.
Participant Demographics
687 male and 578 female infants tested positive for IEM.
Digital Object Identifier (DOI)
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