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

这项研究旨在确定是否可以将karyomapping应用于需要单基因疾病 (SGD) 和/或染色体重排的植入前遗传学诊断 (PGD) 的夫妇。75/82 (91.5%) 和6/82 (7.3%) 夫妇分别被转诊为常染色体SGD和X连锁疾病。一对夫妇 (1.2%) 被指用于SGD和染色体重排。在608胚胎中,进行了146 (24%,95% CI 21-28) 第3天和462 (76%,95% CI 72-79) 胚泡活检。总共进行了81个胚胎移植; 16/81 (20%) 在第3天胚胎活检之后,65/81 (80%) 在囊胚活检和冷冻保存的胚胎移植之后。在81例已知妊娠结局的胚胎移植中,有51例 (63%,95% CI 52-73) 正在进行妊娠,6/81例 (7%,95% CI 3-15) 导致孕早期流产,24/81例 (30%,95% CI 21-40) 植入失败。在进行的51例怀孕中,有15例 (29%,95% CI 19-43) 夫妇在撰写本文时单胎活产。没有产前、基因检测或出生时表型诊断异常的报告。对于需要PGD进行SGD和/或染色体重排的夫妇,Karyomapping是可靠,高效和准确的。此外,它提供了非整倍性筛查,最大程度地减少了流产和植入失败的风险。

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