Yunni Cai1, Min Ding1, Fei Lin2, Zhenyu Diao2, Ningyuan Zhang2, Haixiang Sun2, Jianjun Zhou3. 1. Reproductive Medicine Centre, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing Jiangsu 210008, China. 2. Reproductive Medicine Centre, Nanjing Drum Tower Hospital, The Affiliated Hospital to Nanjing University Medical School, Nanjing Jiangsu 210008, China. 3. Reproductive Medicine Centre, Nanjing Drum Tower Hospital Clinical College of Nanjing Medical University, Nanjing Jiangsu 210008, China; Reproductive Medicine Centre, Nanjing Drum Tower Hospital, The Affiliated Hospital to Nanjing University Medical School, Nanjing Jiangsu 210008, China. Electronic address: zhou6jj@sina.com.
Abstract
RESEARCH QUESTION: Can next-generation sequencing (NGS) based on copy number variation sequencing (CNV-Seq) identify normal/balanced embryos in balanced reciprocal translocation carriers and what are their reproductive outcomes? DESIGN: One hundred couples with balanced reciprocal translocation who underwent a total of 134 preimplantation genetic testing (PGT) cycles between January 2015 and October 2017 were evaluated. Trophectoderm cells of blastocysts were biopsied for CNV-Seq-based NGS. All the balanced/normal blastocysts were vitrified and cryopreserved. Single balanced/normal blastocysts were warmed and transferred in the subsequent frozen embryo transfer (FET) cycle. RESULTS: During the study period, 400 blastocysts were analysed by NGS-PGT, of which 109 (27.25%) were balanced and euploid. A total of 52 blastocysts were transferred in the FET cycle. Clinical pregnancy was confirmed in 34 women (65.38%), with a miscarriage rate of 2.94%; 26 healthy term babies were born, including 24 singletons and one set of twins, while eight couples had ongoing pregnancies. Amniocentesis revealed a fetal chromosome status that was consistent with the NGS-PGT results. Female carriers had a significantly higher blastocyst rate than did the male carriers (37.01% versus 31.27%, P = 0.04). The transferable blastocyst rate was higher in couples treated with gonadotrophin-releasing hormone (GnRH) antagonist than in those treated with GnRH agonist (38.20% versus 24.37%, P = 0.01). However, neither carrier sex nor ovarian stimulation protocol influenced the clinical pregnancy rate. CONCLUSIONS: CNV-Seq-based NGS is an efficient and reliable PGT method for balanced reciprocal translocation.
RESEARCH QUESTION: Can next-generation sequencing (NGS) based on copy number variation sequencing (CNV-Seq) identify normal/balanced embryos in balanced reciprocal translocation carriers and what are their reproductive outcomes? DESIGN: One hundred couples with balanced reciprocal translocation who underwent a total of 134 preimplantation genetic testing (PGT) cycles between January 2015 and October 2017 were evaluated. Trophectoderm cells of blastocysts were biopsied for CNV-Seq-based NGS. All the balanced/normal blastocysts were vitrified and cryopreserved. Single balanced/normal blastocysts were warmed and transferred in the subsequent frozen embryo transfer (FET) cycle. RESULTS: During the study period, 400 blastocysts were analysed by NGS-PGT, of which 109 (27.25%) were balanced and euploid. A total of 52 blastocysts were transferred in the FET cycle. Clinical pregnancy was confirmed in 34 women (65.38%), with a miscarriage rate of 2.94%; 26 healthy term babies were born, including 24 singletons and one set of twins, while eight couples had ongoing pregnancies. Amniocentesis revealed a fetal chromosome status that was consistent with the NGS-PGT results. Female carriers had a significantly higher blastocyst rate than did the male carriers (37.01% versus 31.27%, P = 0.04). The transferable blastocyst rate was higher in couples treated with gonadotrophin-releasing hormone (GnRH) antagonist than in those treated with GnRH agonist (38.20% versus 24.37%, P = 0.01). However, neither carrier sex nor ovarian stimulation protocol influenced the clinical pregnancy rate. CONCLUSIONS: CNV-Seq-based NGS is an efficient and reliable PGT method for balanced reciprocal translocation.
Authors: Chantal B Bartels; Reeva Makhijani; Prachi Godiwala; Alison Bartolucci; John C Nulsen; Daniel R Grow; Lawrence Engmann; Claudio A Benadiva Journal: F S Rep Date: 2020-09-25