This study aimed to determine whether karyomapping can be applied to couples requiring preimplantation genetic diagnosis (PGD) for single gene disorder (SGD) and/or chromosomal rearrangement. 75/82 (91.5%) and 6/82 (7.3%) couples were referred for autosomal SGD and X-linked disease, respectively. One couple (1.2%) was referred for SGD and chromosomal rearrangement. Of 608 embryos, 146 (24%, 95% CI 21-28) day-3 and 462 (76%, 95% CI 72-79) blastocyst biopsies were performed. A total of 81 embryo transfers were performed; 16/81 (20%) were following day-3 embryo biopsy, 65/81 (80%) were following blastocyst biopsy and cryopreserved embryo transfer. Of 81 embryo transfers with known pregnancy outcome, 51 (63%, 95% CI 52-73) were on-going pregnancies, 6/81 (7%, 95% CI 3-15) resulted in first trimester miscarriages and 24/81 (30%, 95% CI 21-40) were failed implantations. Of the 51 on-going pregnancies, 15 (29%, 95% CI 19-43) couples had a singleton live birth at the time of write up. There have been no reports of abnormal prenatal, genetic testing or diagnosis of phenotype at birth. Karyomapping is reliable, efficient and accurate for couples requiring PGD for SGD and/or chromosomal rearrangement. Additionally, it provides aneuploidy screening, minimising risks of miscarriage and implantation failure.

译文

:这项研究的目的是确定是否可以对需要单基因疾病(SGD)和/或染色体重排的需要植入前遗传学诊断(PGD)的夫妇进行核对。 75/82(91.5%)和6/82(7.3%)对夫妇因常染色体SGD和X连锁疾病而被转介。 SGD和染色体重排涉及一对夫妇(1.2%)。在608个胚胎中,第3天进行了146次(24%,95%CI 21-28)CI和462(76%,95%CI 72-79)胚泡活检。总共进行了81次胚胎移植。第3天胚胎活检后为16/81(20%),胚泡活检和冷冻保存的胚胎移植后为65/81(80%)。在有已知妊娠结局的81个胚胎移植中,有51个(63%,95%CI 52-73)正在进行妊娠,6/81(7%,95%CI 3-15)导致早孕流产和24/81 (30%,95%CI 21-40)植入失败。在进行的51次怀孕中,有15对(29%,95%CI 19-43)的夫妇在撰写本文时有单胎活产。没有关于出生前的异常产前,基因检测或表型诊断的报道。对于需要PGD进行SGD和/或染色体重排的夫妇,核定图是可靠,高效和准确的。此外,它还提供了非整倍性筛选,从而最大程度地减少了流产和植入失败的风险。

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