The project will carry out the genetic testing of 10000 neonates. The aim of the project is to assess the application of targeted sequencing technology in the screening of neonatal diseases.
Neonatal screening (NBS) is the last step of birth defects prevention. Currently, biochemical and mass spectrometry are commonly used for NBS, but there are limited diseases and certain false positive/negative. High-throughput sequencing (NGS) has been widely used in prenatal diagnosis, tumor-targeted biomarkers detection and pathogen detection. Although the application of NGS in new screening has a broad prospect and many countries around the world have begun to explore it, there are still challenges in the selection of screening diseases, gene clinical phenotypes, genetic counseling and clinical pathway. Since 2019, our team began to explore the appllication of NGS technologies in the clinical application of tertiary prevention, combined with Clinva, HGMD, OMIM database, on the basis of screening specific disease-causing genes and mutation sites as the target, A NGS panel for Newborns in China (NeoExome) was designed, covering 542 single-gene diseases with 601 genes. The rationality and validity of the NGS panel was preliminarily verified in 3423 neonatal blood samples collected from 5 new screening centers in China. In order to further optimize the gene screening spectrum of neonatal diseases in the Chinese population, evaluate the efficacy of targeted sequencing technology in the screening and diagnosis of neonatal diseases, standardize the clinical pathway, and lay a foundation for the formulation of China's new screening NGS guidelines, the investigators further optimized the targeted sequencing package (NeoexOME-V2) on the basis of the first phase. 491 genes covering 485 single-gene genetic diseases were designed to launch the "Budding Action". The project plans to collect 10000 samples nationwide and carry out the multi-center clinical research on the application of targeted sequencing technology in the screening of neonatal diseases.
Study Type
OBSERVATIONAL
Enrollment
10,000
In the Nation multicenter screening cohort, NGS testing was performed on the basis of conventional NBS to study the relationship between gene variation and disease occurrence;
Disease incidence among NGS positive participants
Newborn was followed up for 3 years after birth, and the follow-up results were compared to evaluate and study the relationship between gene variation and disease occurrence
Time frame: 3 years
The consistency of test results of NGS and conventional NBS
Conventional NBS was used as the standard to study the application potential of targeted sequencing technology in neonatal screening and evaluate its consistency
Time frame: 1 year
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