Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Fan Tong¹, Jian Wang², Rui Xiao³, Bing-Bing Wu⁴, Chao-Chun Zou¹, Ding-Wen Wu¹, Hua Wang⁵, Hui Zou⁶, Lian-Shu Han⁷, Lin Yang⁸, Lin Zou⁹, Ming-Yan Hei¹⁰, Ru-Lai Yang¹, Tian-Ming Yuan¹, Wei Wen¹¹, Xin-Wen Huang¹, Xue-Fan Gu¹², Yan-Ling Yang¹³, Yong-Lan Huang¹⁴, Yong-Jun Zhang¹², Yong-Guo Yu⁷, Zheng-Feng Xu¹⁵, Wen-Hao Zhou¹⁶, Zheng-Yan Zhao¹⁷

Affiliations

¹ Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, 310052, China.
² Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
³ National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention, Screening and Diagnostic R and D Center, Hangzhou, China.
⁴ Center for Molecular Medicine, Children's Hospital of Fudan University, 399 Wan Yuan Road, Min Xing District, Shanghai, 200000, China.
⁵ National Health Commission Key Laboratory for Birth Defect Research and Prevention, Maternal and Child Health Hospital of Hunan Province, Changsha, China.
⁶ Jinan Maternity and Child Care Hospital Affiliated To Shandong First Medical University, Jinan, China.
⁷ Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁸ Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.
⁹ Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
¹⁰ Neonatal Center, Beijing Children's Hospital, Capital Medical University, Beijing, China.
¹¹ Affiliated Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
¹² Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
¹³ Peking University First Hospital, Beijing, China.
¹⁴ Guangzhou Women and Children's Medical Center, Guangzhou, China.
¹⁵ Center of Genetic Medicine, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
¹⁶ Center for Molecular Medicine, Children's Hospital of Fudan University, 399 Wan Yuan Road, Min Xing District, Shanghai, 200000, China. zhouwenhao@fudan.edu.cn.
¹⁷ Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, 310052, China. zhaozy@zju.edu.cn.

PMID: 35292922
DOI: 10.1007/s12519-022-00522-8

Editorial

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Fan Tong et al. World J Pediatr. 2022 Apr.

. 2022 Apr;18(4):235-242.

doi: 10.1007/s12519-022-00522-8. Epub 2022 Mar 15.

Authors

Affiliations

¹ Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, 310052, China.
² Shanghai Children's Medical Center, Shanghai Jiaotong University School of Medicine, Shanghai, China.
³ National Engineering Laboratory for Key Technology of Birth Defect Control and Prevention, Screening and Diagnostic R and D Center, Hangzhou, China.
⁴ Center for Molecular Medicine, Children's Hospital of Fudan University, 399 Wan Yuan Road, Min Xing District, Shanghai, 200000, China.
⁵ National Health Commission Key Laboratory for Birth Defect Research and Prevention, Maternal and Child Health Hospital of Hunan Province, Changsha, China.
⁶ Jinan Maternity and Child Care Hospital Affiliated To Shandong First Medical University, Jinan, China.
⁷ Xinhua Hospital, Shanghai Institute for Pediatric Research, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
⁸ Clinical Genetic Center, Children's Hospital of Fudan University, Shanghai, China.
⁹ Children's Hospital, Shanghai Jiaotong University, Shanghai, China.
¹⁰ Neonatal Center, Beijing Children's Hospital, Capital Medical University, Beijing, China.
¹¹ Affiliated Shenzhen Maternity and Child Healthcare Hospital, Southern Medical University, Shenzhen, China.
¹² Xinhua Hospital, School of Medicine, Shanghai Jiaotong University, Shanghai, China.
¹³ Peking University First Hospital, Beijing, China.
¹⁴ Guangzhou Women and Children's Medical Center, Guangzhou, China.
¹⁵ Center of Genetic Medicine, Women's Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital, Nanjing, China.
¹⁶ Center for Molecular Medicine, Children's Hospital of Fudan University, 399 Wan Yuan Road, Min Xing District, Shanghai, 200000, China. zhouwenhao@fudan.edu.cn.
¹⁷ Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Binsheng Road, Binjiang District, Hangzhou, 310052, China. zhaozy@zju.edu.cn.

PMID: 35292922
DOI: 10.1007/s12519-022-00522-8

No abstract available

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References

1. Technical specifications for newborn disease screening 2010 edition. http://www.nhc.gov.cn/fys/s3585/201012/170f29f0c5c54d298155631b4a510df0.... . Accessed 1 Dec 2021 (in Chinese).
1. Zhao ZY. Progress in international neonatal disease screening. Chin J Child Health Care. 2012;20:193–5 (in Chinese).
1. Gu XF, Wang ZG, Ye J, Han LS, Qiu WJ. Newborn screening in China: phenylketonuria, congenital hypothyroidism and expanded screening. Ann Acad Med Singap. 2008;37(12 Suppl):107–14. - PubMed
1. The National Newborn Screening and Global Resource Center. http://genes-r-us.Uthscsa.edu/resources/newborn/overview.htm . Accessed 1 Dec 2021.
1. Advisory committees on heritable disorders in newborns and children. Advisory Recommended uniform screening panel. http://www.hrsa.gov/advisory-committees/heritable-disorders/rusp/index.html . Updated July 2018. Accessed 1 Dec 2021.

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Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

Affiliations

Application of next generation sequencing in the screening of monogenic diseases in China, 2021: a consensus among Chinese newborn screening experts

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