Jingyi Yang1, Zhiqiang Yan1, Yan Liu2, Xiaohui Zhu1, Rong Li1, Ping Liu1, Liying Yan1, Jie Qiao1, Xu Zhi3. 1. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China. 2. Department of Pathology, School of Basic Medical Sciences, Third Hospital, Peking University Health Science Center, Beijing, 100191, China. 3. Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, No. 49, North Garden Road, Haidian District, Beijing, 100191, China. zhixujp@163.com.
Abstract
PURPOSE: To study the application of next-generation sequencing on preimplantation genetic testing for recurrent hydatidiform mole patients. METHODS: A total of ten recurrent hydatidiform mole patients aged 27-34 years with a history of at least twice hydatidiform moles and no normal pregnancy were collected from 2019 to 2020. The diagnosis of hydatidiform mole type was clarified using short tandem repeat genotyping on products of conception, and whole-exome sequencing was applied for all patients and their partners. Seven recurrent hydatidiform mole patients with complete hydatidiform mole/partial hydatidiform mole type among previous hydatidiform mole tissues and no Pathogenetic/Likely pathogenetic/Uncertain significance variants in NLRP7/KHDC3L/MEI1/C11orf80 underwent a procedure of preimplantation genetic testing. Next-generation sequencing for analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism was adopted to clarify the ploidy and parental origin of the embryo chromosomes in vitro. Embryos with biparental diploidy were selected for transfer. RESULTS: Seven patients have undergone the procedure of preimplantation genetic testing, and twenty-three embryos were obtained, among which 82.6% (n = 19) were identified transferrable and 17.4% (n = 4) were identified aneuploid. Two patients have delivered healthy babies and another is currently in the second trimester after transfer. CONCLUSION: Analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism on the basis of next-generation sequencing can be utilized in the procedure of preimplantation genetic testing among part of recurrent hydatidiform mole patients. The current study is effective to reduce the occurrence of hydatidiform mole with improved clinical strategy, the advanced testing technology and analysis methods, as three of seven patients have conceived or delivered successfully.
PURPOSE: To study the application of next-generation sequencing on preimplantation genetic testing for recurrent hydatidiform mole patients. METHODS: A total of ten recurrent hydatidiform mole patients aged 27-34 years with a history of at least twice hydatidiform moles and no normal pregnancy were collected from 2019 to 2020. The diagnosis of hydatidiform mole type was clarified using short tandem repeat genotyping on products of conception, and whole-exome sequencing was applied for all patients and their partners. Seven recurrent hydatidiform mole patients with complete hydatidiform mole/partial hydatidiform mole type among previous hydatidiform mole tissues and no Pathogenetic/Likely pathogenetic/Uncertain significance variants in NLRP7/KHDC3L/MEI1/C11orf80 underwent a procedure of preimplantation genetic testing. Next-generation sequencing for analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism was adopted to clarify the ploidy and parental origin of the embryo chromosomes in vitro. Embryos with biparental diploidy were selected for transfer. RESULTS: Seven patients have undergone the procedure of preimplantation genetic testing, and twenty-three embryos were obtained, among which 82.6% (n = 19) were identified transferrable and 17.4% (n = 4) were identified aneuploid. Two patients have delivered healthy babies and another is currently in the second trimester after transfer. CONCLUSION: Analyzing the copy number variants and the numbers of heterozygous single nucleotide polymorphism on the basis of next-generation sequencing can be utilized in the procedure of preimplantation genetic testing among part of recurrent hydatidiform mole patients. The current study is effective to reduce the occurrence of hydatidiform mole with improved clinical strategy, the advanced testing technology and analysis methods, as three of seven patients have conceived or delivered successfully.
Authors: Christiane Messaed; Wafaa Chebaro; Raphael B Di Roberto; Cecile Rittore; Annie Cheung; Jocelyne Arseneau; Ariel Schneider; Moy Fong Chen; Kurt Bernishke; Urvashi Surti; Lori Hoffner; Philippe Sauthier; William Buckett; JianHua Qian; Nga Man Lau; Rashmi Bagga; James C Engert; Philippe Coullin; Isabelle Touitou; Rima Slim Journal: J Med Genet Date: 2011-06-09 Impact factor: 6.318
Authors: C M Wang; P H Dixon; S Decordova; M D Hodges; N J Sebire; S Ozalp; M Fallahian; A Sensi; F Ashrafi; V Repiska; J Zhao; Y Xiang; P M Savage; M J Seckl; R A Fisher Journal: J Med Genet Date: 2009-02-25 Impact factor: 6.318
Authors: Antonio Braga; Paulo Mora; Andréia Cristina de Melo; Angélica Nogueira-Rodrigues; Joffre Amim-Junior; Jorge Rezende-Filho; Michael J Seckl Journal: World J Clin Oncol Date: 2019-02-24
Authors: Joanna Wiszniewska; Weimin Bi; Chad Shaw; Pawel Stankiewicz; Sung-Hae L Kang; Amber N Pursley; Seema Lalani; Patricia Hixson; Tomasz Gambin; Chun-hui Tsai; Hans-Georg Bock; Maria Descartes; Frank J Probst; Fernando Scaglia; Arthur L Beaudet; James R Lupski; Christine Eng; Sau Wai Cheung; Carlos Bacino; Ankita Patel Journal: Eur J Hum Genet Date: 2013-05-22 Impact factor: 4.246