Newborn screening with targeted sequencing: a multicenter investigation and a pilot clinical study in China |
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| Affiliation: | 1. Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing 100045, China;2. MOE Key Laboratory of Major Diseases in Children, Beijing 100045, China;3. Rare Disease Center, National Center for Children''s Health, Beijing 100045, China;4. Beijing Children''s Hospital, Capital Medical University, Beijing 100045, China;5. Shunyi Women and Children''s Healthcare Hospital of Beijing Children''s Hospital, Beijing 101300, China;6. Liuzhou Maternal and Child Healthcare Hospital, Liuzhou, Guangxi 545001, China;7. Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China;8. Inner Mongolia Maternity and Child Healthcare Hospital, Hohhot, Inner Mongolia Autonomous Region 010020, China;9. Qingdao Women and Children''s Hospital, Qingdao, Shandong 266012, China;10. Qinghai Maternal and Child Health Hospital, Xining, Qinghai 810007, China;11. Guiyang Maternity and Child Healthcare Hospital, Guiyang, Guizhou 550003, China;12. Urumqi First People''s Hospital, Urumqi, Xinjiang 830011, China;1. Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute, Beijing 100045, China;2. MOE Key Laboratory of Major Diseases in Children, Beijing 100045, China;3. Rare Disease Center, National Center for Children''s Health, Beijing 100045, China;4. Beijing Children''s Hospital, Capital Medical University, Beijing 100045, China;5. Shunyi Women and Children''s Healthcare Hospital of Beijing Children''s Hospital, Beijing 101300, China;6. Liuzhou Maternal and Child Healthcare Hospital, Liuzhou, Guangxi 545001, China;7. Wuhan Maternal and Child Healthcare Hospital, Tongji Medical College, Huazhong University of Science & Technology, Wuhan, Hubei 430016, China;8. Inner Mongolia Maternity and Child Healthcare Hospital, Hohhot, Inner Mongolia Autonomous Region 010020, China;9. Qingdao Women and Children''s Hospital, Qingdao, Shandong 266012, China;10. Qinghai Maternal and Child Health Hospital, Xining, Qinghai 810007, China;11. Guiyang Maternity and Child Healthcare Hospital, Guiyang, Guizhou 550003, China;12. Urumqi First People''s Hospital, Urumqi, Xinjiang 830011, China |
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| Abstract: | 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 8 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 3923 newborns to evaluate its clinical application. The turn-around time of a primary report, including the sequencing period of < 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. |
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| Keywords: | Newborn screening Next-generation sequencing Targeted sequencing Monogenic disorders Clinical practice |
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