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首页> 外文期刊>Molecular cytogenetics >The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier
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The decision on the embryo to transfer after Preimplantation Genetic Diagnosis for X-autosome reciprocal translocation in male carrier

机译：在雄性载体中X-Autosome互易易位预体遗传诊断后胚胎转移的决定

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The aim of Preimplantation Genetic Diagnosis (PGD) on embryos produced in vitro is to identify the embryos without genetic or chromosomal defect from those embryos that will develop the genetic disease or are chromosomally abnormal. In case of PGD for structural chromosome indication (PGR-SR), the normal/balanced embryos are transferred in the maternal uterus. This protocol is valid and widely applied for autosomal chromosome translocation. But which embryo should be transferred after preimplantation genetic diagnosis (PGD-SR) for X-3 reciprocal translocation in male patient? The female patient was 26 years old with normal 46,XX karyotype. The male patient had a karyotype with balanced translocation 46,Y,t(X;3)(p11.2;p14)mat, inherited from the mother. The female patient underwent two cycles of ovarian stimulation. In the first cycle, the metaphase II oocytes were vitrified, while in the second cycle they were used as fresh. ICSI was performed on vitrified/warmed and fresh oocytes. Embryos were biopsied at blastocyst stage. Chromosomal analysis was performed by Next Generation Sequencing.Eleven blastocysts were biopsied from 23 vitrified/warmed and fresh metaphase II oocytes. Two embryos were diagnosed 46,XY; two embryos were diagnosed 46,XX; four embryos were diagnosed with unbalanced translocations and three embryos were diagnosed aneuploid. We knew that the two embryos diagnosed as 46,XX inherited the balanced translocation from the father and the two embryos diagnosed as 46,XY had a normal karyotype. It was explain to the couple that the phenotype of balanced translocated female embryos cannot be predicted because of the random inactivation of X chromosome and that could also occur on the der(X). The couple asked to have a 46,XY embryo transferred. Clinical pregnancy was obtained and non invasive prenatal test confirmed PGD-SR result. Proposing PGD-SR for gonosome-autosome reciprocal translocation implies the risk to exclude balanced translocated female embryos with a normal phenotype for transfer because the early and late normal development at post-natal stage cannot be?predicted based on the only chromosomal analysis.
机译：在体外产生的胚胎上的胚胎遗传诊断（PGD）的目的是鉴定没有遗传或染色体缺陷的胚胎，这些胚胎将产生遗传疾病或染色体异常。在用于结构染色体指示的PGD（PGR-SR）的情况下，正常/平衡胚胎在母体子宫中转移。该方案有效和广泛应用于常染色体染色体易位。但是，在雄性患者中X-3互易易易刻的X-3互易易易刻后，应该转移哪种胚胎？女性患者26岁，具有正常的46，XX核型。雄性患者具有核型，具有平衡易位46，Y，T（x; 3）（p11.2; p14）垫，从母亲继承。女病人接受了两个卵巢刺激的周期。在第一个循环中，中期II卵母细胞玻璃化，而在第二个循环中，它们用作新鲜。 ICSI是对玻璃化/加热和新鲜卵母细胞进行的。胚胎在胚泡阶段进行了活组学。通过下一代测序进行染色体分析。从23种玻璃化/加热和新的中期II卵母细胞中，Eleven胚泡是活检的。两种胚胎被诊断为46，XY;诊断出两个胚胎46，xx;用不平衡的易位诊断出四个胚胎，并且诊断了三个胚胎是一种非愈合的非霉素。我们知道诊断为46的两种胚胎，XX继承了父亲和诊断为46的两个胚胎的平衡易位，XY具有正常的核型。对于该夫妻来说，这是由于X染色体的随机灭活而无法预测平衡平衡的雌性胚胎的表型，并且在DER（x）上也可能发生。这对夫妇要求有一个46，XY胚胎转移。获得临床妊娠，未侵入性产前测试证实了PGD-SR结果。提出用于冈孢子体 - 常孔体互惠易位的PGD-SR意味着排除平衡的易用的雌性胚胎的风险与普通表型进行转移，因为产后阶段的早期和晚期正常发育不能是？基于唯一的染色体分析预测。

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