Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.
Successful birth after preimplantation genetic testing for a couple with two different reciprocal translocations and review of the literature.
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一对具有两种不同相互易位的夫妇植入前基因检测后成功分娩并文献综述
DOI：
10.1186/s12958-021-00731-2
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发表时间：
2021-04-20
期刊：
影响因子：
--
通讯作者：
Liu F
中科院分区：
文献类型：
--
作者：
Liu D;Chen C;Zhang X;Dong M;He T;Dong Y;Lu J;Yu L;Yang C;Liu F
背景胚胎植入前染色体结构重排基因检测（PGT-SR）被广泛应用于单易位夫妇，以增加健康活产的机会。然而，有限的知识是已知的PGT-SR的数据时，父母双方都有一个相互易位。在这里，我们第一次提出了一个罕见的情况下，PGT-SR的非血缘关系的夫妇，父母双方进行了独立的平衡相互易位，并显示如何相关的遗传咨询data.MethodsThe精确的易位断点，确定了全基因组低覆盖测序（WGLCS）和桑格测序。下一代测序（NGS）结合断裂点特异性聚合酶链反应（PCR）被用来定义24-染色体和载体状态的整倍体embryos.ResultsSurprisingly，2出3天-5囊胚被发现是平衡的母亲相互易位，而正常的父亲易位，从而转让。移植胚胎率明显高于理论预期值。结论（s）我们的PGT-SR数据与文献的系统回顾应有助于提供夫妇携带两个不同的相互易位PGT-SR更适当的遗传咨询。
BackgroundPreimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated.MethodsThe precise translocation breakpoints were identified by whole genome low-coverage sequencing (WGLCS) and Sanger sequencing. Next-generation sequencing (NGS) combining with breakpoint-specific polymerase chain reaction (PCR) was used to define 24-chromosome and the carrier status of the euploid embryos.ResultsSurprisingly, 2 out of 3 day-5 blastocysts were found to be balanced for maternal reciprocal translocation while being normal for paternal translocation and thus transferable. The transferable embryo rate was significantly higher than that which would be expected theoretically. Transfer of one balanced embryo resulted in the birth of a healthy boy.Conclusion(s)Our data of PGT-SR together with a systematic review of the literature should help in providing couples carrying two different reciprocal translocations undergoing PGT-SR with more appropriate genetic counseling.
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影响因子：
6.1
作者：
Alfarawati, S.;Fragouli, E.;Wells, D.
通讯作者：
Wells, D.
影响因子：
4
作者：
Bazrgar, Masood;Gourabi, Hamid;Baharvand, Hossein
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Baharvand, Hossein
影响因子：
6.1
作者：
De Rycke, M.;Goossens, V.;Moutou, C.
通讯作者：
Moutou, C.
影响因子：
3.1
作者：
Treff NR;Thompson K;Rafizadeh M;Chow M;Morrison L;Tao X;Garnsey H;Reda CV;Metzgar TL;Neal S;Jalas C;Scott RT Jr;Forman EJ
通讯作者：
Forman EJ
影响因子：
3.5
作者：
Schneider, Eberhard;Maerker, Tina;Haaf, Thomas
通讯作者：
Haaf, Thomas