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Poor embryo development and preimplantation genetic diagnosis outcomes of translocations involving chromosome 10: Do we blame genetics?

机译:涉及染色体10的易位的胚胎发育不良和着床前遗传学诊断的结果:我们应归咎于遗传学吗?

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摘要

Balanced reciprocal translocation carriers are usually phenotypically normal. Although the reproductive risk of these carriers varies, they generally have a lower chance to produce normal or balanced gametes. Preimplantation genetic diagnosis (PGD) is offered to these patients to increase their chances of becoming pregnant by selecting a balanced embryo for transfer. This study aimed to analyse the development and the PGD outcome of the embryos obtained from reciprocal translocation carriers focusing on ones with chromosome 10 rearrangements. In total, 27 reciprocal translocation carriers underwent 31 cycles of PGD. PGD was performed using multicolour fluorescence in situ hybridisation for 298 embryos and of these 136 were obtained from couples carrying translocations involving chromosome 10 rearrangements. Carriers of translocations involving chromosome 10 rearrangements have a lower chance of producing normal or balanced embryos compared with the carriers with other rearrangements. The development of embryos obtained from the patients with chromosome 10 rearrangements was impaired and only a limited number of embryos developed to the blastocyst stage.
机译:平衡的易位载体通常在表型上是正常的。尽管这些携带者的生殖风险各不相同,但它们产生正常或平衡配子的机会通常较低。通过选择平衡的胚胎进行移植,为这些患者提供了植入前遗传学诊断(PGD),以增加他们怀孕的机会。这项研究旨在分析从相互易位携带者获得的胚胎的发育和PGD结局,重点是具有10号染色体重排的携带者。总共有27个互易易位载体经历了31个PGD循环。使用多色荧光原位杂交技术对298个胚胎进行了PGD,其中136个是从携带涉及10号染色体重排的易位的夫妇获得的。与具有其他重排的载体相比,涉及10号染色体重排的易位载体产生正常或平衡胚胎的机会较低。从染色体10重排的患者获得的胚胎发育受到损害,只有有限数量的胚胎发育到胚泡期。

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