Chinese experts’ consensus guideline on preimplantation genetic testing of monogenic disorders

Author:

Yan Liying1ORCID,Cao Yunxia2,Chen Zi-Jiang3,Du Jie4,Wang ShuYu5,Huang Hefeng6,Huang Jin1,Li Rong1ORCID,Liu Ping1,Zhang Zhe1,Huang Yu7,Lin Ge8ORCID,Pan Hong9,Qi Hongbo10,Qian Weiping11,Sun Yun12ORCID,Wu Lingqian13ORCID,Yao Yuanqing14,Zhang Bo15,Zhang Cuilian16,Zhao Shuyun17,Zhou Canquan18,Zhang Xue19ORCID,Qiao Jie1ORCID

Affiliation:

1. Department of Obstetrics and Gynecology, Center for Reproductive Medicine, National Clinical Research Center for Obstetrics and Gynecology, Peking University Third Hospital , Beijing, China

2. The First Affiliated Hospital of Anhui Medical University , Hefei, China

3. Hospital for Reproductive Medicine Affiliated to Shandong University , Jinan, China

4. Beijing Anzhen Hospital, Capital Medical University , Beijing, China

5. Beijing Obstetrics and Gynecology Hospital, Capital Medical University , Beijing, China

6. Obstetrics & Gynecology Hospital of Fudan University , Shanghai, China

7. Peking University Health Science Center , Beijing, China

8. Reproductive & Genetic Hospital of CITIC-Xiangya , Changsha, China

9. Peking University First Hospital , Beijing, China

10. The First Affiliated Hospital of Chongqing Medical University , Chongqing, China

11. Peking University Shenzhen Hospital , Shenzhen, China

12. Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine , Shanghai, China

13. The State Key Laboratory of Medical Genetics, School of Life Sciences, Central South University , Changsha, China

14. Shenzhen Key Laboratory of Fertility Regulation, The University of Hong Kong-Shenzhen Hospital , Shenzhen, China

15. Maternity and Child Health Care of Guangxi Zhuang Autonomous Region , Nanning, China

16. Henan Provincial Peoples Hospital , Zhengzhou, China

17. Hospital Affiliated to Guizhou Medical University , Guiyang, China

18. The First Affiliated Hospital, Sun Yat-sen Univeristy , Guangzhou, China

19. Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences , Beijing, China

Abstract

Abstract Recent developments in molecular biological technologies and genetic diagnostic methods, accompanying with updates of relevant terminologies, have enabled the improvements of new strategies of preimplantation genetic testing for monogenic (single gene) disorders (PGT-M) to prevent the transmission of inherited diseases. However, there has been much in the way of published consensus on PGT-M. To properly regulate the application of PGT-M, Chinese experts in reproductive medicine and genetics have jointly developed this consensus statement. The consensus includes indications for patient selection, genetic and reproductive counseling, informed consent, diagnostic strategies, report generation, interpretation of results and patient follow-ups. This consensus statement serves to assist in establishment of evidence-based clinical and laboratory practices for PGT-M.

Funder

National Natural Science Foundation of China

Publisher

Oxford University Press (OUP)

Subject

Obstetrics and Gynecology,Rehabilitation,Reproductive Medicine

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