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Abstract：
Preimplantation genetic testing (PGT) is the earliest form of prenatal diagnosis that has become an established procedure for couples at risk of passing a severe genetic disease to their offspring. At UMC Ljubljana, we conducted a retrospective register-based study to present 15 years of PGT service within the public healthcare system in Slovenia. We collected the data of the PGT cycles from 2004 to 2019 and compared clinical outcomes for chromosomal and monogenic diseases using different embryo biopsy and testing approaches. In addition, we assessed the extent to which PGT has become the preferred option compared to classic prenatal diagnostics. We treated 211 couples, 110 with single gene disorder, 88 with structural chromosome rearrangement and 13 for numerical chromosome aberration. There were 375 PGT cycles with oocyte retrieval, while embryo transfer was possible in 263 cases resulting in 78 deliveries and 84 children. Altogether, the clinical pregnancy rate per embryo transfer was 31% in 2004-2016 (blastomere biopsy) and 43% in 2017-19 (blastocyst biopsy), respectively. We assessed that approximately a third of couples would opt for PGT, while the rest preferred natural conception with prenatal diagnosis. Our results show that providing a PGT service within the public healthcare system has become a considerable option in pregnancy planning for couples at risk of transmitting a severe genetic disease to their offspring. In Slovenia, approximately a third of couples would opt for PGT. Although the number of cycles is small, our clinical results are comparable to larger centres.
摘要：
植入前遗传检测（PGT）是产前诊断的最早形式，已成为有可能将严重遗传疾病传给后代的夫妇的既定程序。在卢布尔雅那UMC,我们进行了一项基于注册的回顾性研究,以介绍斯洛文尼亚公共医疗系统中PGT服务15年.我们收集了2004年至2019年PGT周期的数据，并使用不同的胚胎活检和测试方法比较了染色体和单基因疾病的临床结果。此外,我们评估了与经典产前诊断相比,PGT在多大程度上成为首选.我们治疗了211对夫妇,110患有单基因疾病，88为结构染色体重排，13为数字染色体畸变。有375个PGT周期的卵母细胞取出，而胚胎移植在263例中是可能的，导致78个分娩和84个孩子。总之,每次胚胎移植的临床妊娠率在2004-2016年（卵裂球活检）为31%，在2017-19年（囊胚活检）为43%，分别。我们评估大约三分之一的夫妇会选择PGT，而其余的则更喜欢产前诊断的自然概念。我们的结果表明，在公共医疗系统内提供PGT服务已成为有可能将严重遗传疾病传播给后代的夫妇的怀孕计划中的一个重要选择。在斯洛文尼亚,大约三分之一的夫妇会选择PGT。虽然循环次数很少，我们的临床结果与大型中心相当.
