Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China
| Autor: | Yuanhu Liu, Feng Jin, Xuyun Hu, Wenjie Li, Zhang Yan, Xiujie Wu, Xiaofen Zhang, Weimin Yang, Quansheng Xing, Chanjuan Hao, Xiaohua Wang, Xiulian Jiang, Ren Cai, Xiaoping Ji, Ruolan Guo, Yanhua Sun, Xijiang Hu, Xue Yang, Qianli Yin, Xuanshi Liu, Zhan Qi, Wei Li, Ni Xin, Lanfang Mu, Dingyuan Zeng, Qi Guo |
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| Rok vydání: | 2021 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Newborn screening China Infant Newborn High-Throughput Nucleotide Sequencing Infant Disease Biology Clinical study Clinical Practice Neonatal Screening Clinical diagnosis Genetics medicine Humans Female High incidence Child Molecular Biology Retrospective Studies |
| Zdroj: | Journal of genetics and genomics = Yi chuan xue bao. 49(1) |
| ISSN: | 1673-8527 |
| Popis: | Different newborn screening (NBS) programs have been practiced in many countries since the 1960s. It is of considerable interest whether next-generation sequencing is applicable in NBS. We have developed a panel of 465 causative genes for 596 early-onset, relatively high incidence and potentially actionable severe inherited diseases in our Newborn Screening with Targeted Sequencing (NESTS) program to screen 11,484 babies in eight Women and Children’s hospitals nationwide in China retrospectively. The positive rate from preliminary screening of NESTS was 7.85% (902/11,484). With 45.89% (414/902) follow-up of preliminary positive cases, the overall clinically confirmative diagnosis rate of monogenic disorders was 12.07% (50/414), estimating an average of 0.95% (7.85% × 12.07%) clinical diagnosis rate, suggesting that monogenic disorders account for a considerable proportion of birth defects. The disease/gene spectrum varied in different regions of China. NESTS was implemented in a hospital by screening 3,923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period less than 7 days, was within 11 days by our automatic interpretation pipeline. Our results suggest that NESTS is feasible and cost-effective as a first-tier NBS program, which will change the status of current clinical practice of NBS in China. |
| Databáze: | OpenAIRE |
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