Preimplantation genetic testing for structural rearrangement based on low-coverage next-generation sequencing accurately discriminates between normal and carrier embryos for patients with translocations

染色体易位 核型 胚胎 原核 男科 一致性 罗伯逊易位 染色体重排 生物 羊膜穿刺术 基因检测 胚泡 染色体 遗传学 医学 怀孕 合子 产前诊断 胚胎发生 基因 胎儿
作者
Fan Zhai,Yun Wang,H. Li,Yuqian Wang,Xiaohui Zhu,Ying Kuo,Shuo Guan,Jiacheng Li,Song Shi,Qilong He,Jianting An,Xu Zhi,Ying Lian,Jin Huang,Rong Li,Jie Qiao,Liying Yan,Zhiqiang Yan
出处
期刊:Reproductive Biomedicine Online [Elsevier]
卷期号:45 (3): 473-480 被引量:10
标识
DOI:10.1016/j.rbmo.2022.05.012
摘要

Can preimplantation genetic testing for structural rearrangement (PGT-SR) based on low-coverage next-generation sequencing (NGS) accurately discriminate between normal and carrier embryos of reciprocal translocation (RecT) and Robertsonian translocation (RobT)?A total of 109 couples with RecT or RobT were included in this study. The ages, bad obsteric histories (BOH), blood karyotype and IVF cycle information, including the number of cumulus-oocyte complexes, metaphase II oocytes, two pronuclei oocytes and blastocysts were recorded. 0.1 × whole genome sequencing (WGS) of embryos followed by copy number variation (identifying unbalanced/balanced) and 2 × WGS of parents and embryos followed by haplotype analysis (discriminating between normal and carrier) were carried out in PGT-SR cycles. The embryos without translocation were transferred and clinical outcomes evaluated.Among all the couples in this study, 67 patients had RecT and 42 had RobT. After unbalanced and balanced detection, 103 balanced embryos underwent a further normal and carrier discrimination procedure, and 53 normal embryos were identified. Finally, 32 normal embryos were transferred, with an ongoing pregnancy rate of 46.88% (15/32). All ongoing pregnancies underwent amniocentesis, and the amninocentesis karyotyping results showed 100% concordance with PGT-SR diagnosis.Our low-coverage NGS-based PGT-SR method can accurately discriminate between normal and carrier status of balanced embryos. The method is cost-effective and has broad clinical applicability.
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