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

作者全名："Yan, Liying; Cao, Yunxia; Chen, Zi-Jiang; Du, Jie; Wang, ShuYu; Huang, Hefeng; Huang, Jin; Li, Rong; Liu, Ping; Zhang, Zhe; Huang, Yu; Lin, Ge; Pan, Hong; Qi, Hongbo; Qian, Weiping; Sun, Yun; Wu, Lingqian; Yao, Yuanqing; Zhang, Bo; Zhang, Cuilian; Zhao, Shuyun; Zhou, Canquan; Zhang, Xue; Qiao, Jie"

作者地址："[Yan, Liying; Huang, Jin; Li, Rong; Liu, Ping; Zhang, Zhe; Qiao, Jie] Peking Univ Third Hosp, Ctr Reprod Med, Natl Clin Res Ctr Obstet & Gynecol, Dept Obstet & Gynecol, Beijing, Peoples R China; [Cao, Yunxia] Anhui Med Univ, Affiliated Hosp 1, Hefei, Peoples R China; [Chen, Zi-Jiang] Shandong Univ, Hosp Reprod Med, Jinan, Peoples R China; [Du, Jie] Capital Med Univ, Beijing Anzhen Hosp, Beijing, Peoples R China; [Wang, ShuYu] Capital Med Univ, Beijing Obstet & Gynecol Hosp, Beijing, Peoples R China; [Huang, Hefeng] Fudan Univ, Obstet & Gynecol Hosp, Shanghai, Peoples R China; [Huang, Yu] Peking Univ, Hlth Sci Ctr, Beijing, Peoples R China; [Lin, Ge] Reprod & Genet Hosp CIT Xiangya, Changsha, Peoples R China; [Pan, Hong] Peking Univ First Hosp, Beijing, Peoples R China; [Qi, Hongbo] Chongqing Med Univ, Affiliated Hosp 1, Chongqing, Peoples R China; [Qian, Weiping] Peking Univ, Shenzhen Hosp, Shenzhen, Peoples R China; [Sun, Yun] Shanghai Jiao Tong Univ, Renji Hosp, Sch Med, Shanghai, Peoples R China; [Wu, Lingqian] Cent South Univ, Sch Life Sci, State Key Lab Med Genet, Changsha, Peoples R China; [Yao, Yuanqing] Univ Hong Kong, Shenzhen Hosp, Shenzhen Key Lab Fertil Regulat, Shenzhen, Peoples R China; [Zhang, Bo] Matern & Child Hlth Care Guangxi Zhuang Autonomous, Nanning, Peoples R China; [Zhang, Cuilian] Henan Prov Peoples Hosp, Zhengzhou, Peoples R China; [Zhao, Shuyun] Guizhou Med Univ, Guiyang, Peoples R China; [Zhou, Canquan] Sun Yat Sen Univ, Affiliated Hosp 1, Guangzhou, Peoples R China; [Zhang, Xue] Chinese Acad Med Sci, Inst Basic Med Sci, Beijing, Peoples R China; [Qiao, Jie] Peking Univ Third Hosp, Ctr Reprod Med, Natl Clin Res Ctr Obstetricsand Gynecol, Dept Obstet & Gynecol, 49 North Garden Rd, Beijing 100191, Peoples R China; [Zhang, Xue] Chinese Acad Med Sci, Inst Basic Med Sci, 157 Nangang Dist,Harbin Healthcare Rd, Harbin 150081, Peoples R China"

通信作者："Qiao, J (通讯作者)，Peking Univ Third Hosp, Ctr Reprod Med, Natl Clin Res Ctr Obstetricsand Gynecol, Dept Obstet & Gynecol, 49 North Garden Rd, Beijing 100191, Peoples R China.; Zhang, X (通讯作者)，Chinese Acad Med Sci, Inst Basic Med Sci, 157 Nangang Dist,Harbin Healthcare Rd, Harbin 150081, Peoples R China."

来源：HUMAN REPRODUCTION

ESI学科分类：CLINICAL MEDICINE

WOS号：WOS:001127055000008

JCR分区：Q1

影响因子：6.1

年份：2023

卷号：38

期号：　

开始页：II3

结束页：II13

文献类型：Article

关键词：preimplantation genetic testing; monogenic disorders; expert consensus; reproductive medicine; hereditary diseases

摘要："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."

基金机构："National Natural Science Foundation of China [82288102, 82125013]"

基金资助正文：This project is funded by National Natural Science Foundation of China (82288102 and 82125013)