Preimplantation genetic testing-human leukocyte antigen '(PGT-HLA) only' refers to the HLA typing of single or few cells biopsied from in vitro fertilized preimplantation embryos. The aim of the procedure is to establish a pregnancy, in which the fetus is HLA compatible with an affected sibling in need of a hematopoietic stem cell transplantation (HSCT). During PGT-M-HLA, the identification of a HLA-compatible embryo is combined with the detection of mutation(s) underlying immunodeficiencies and hemoglobinopathies. We report a combined retrospective and prospective cohort analysis of PGT-(M-)HLA procedures carried out from 1998 until 2017, with follow-up of transplantations to 2019. During the study period, 234 couples from 22 countries were invited for a multidisciplinary consultation. Two couples were rejected and 70 couples declined (various reasons), leaving 162 couples for which 414 clinical cycles were carried out. Cleavage stage biopsy followed by single-cell multiplex PCR for short tandem repeat-based haplotyping was applied in most cases (98.7%). The diagnostic efficiency was high (94.8%) but only 16.5% of the embryos was genetically suitable for transfer. Fresh and frozen-thawed embryo transfer resulted in 67 clinical pregnancies, 63 deliveries, and 74 live births, of which 60 children were HLA compatible. This yielded a live birth delivery rate of 30.3% per transfer. Information on neonatal characteristics of the matching PGT-(M-)HLA children showed reassuring outcomes. So far, HSCT was carried out successfully for 25 out of 26 cases. In conclusion, our data show that PGT-(M-)HLA is a valuable procedure: the high complexity and limited delivery rate are balanced by the successful HSCT outcome and the positive impact on families.

中文翻译：

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与HLA匹配的植入前基因测试：从咨询到出生及以后。

植入前基因测试-“人类白细胞抗原”（仅“ PGT-HLA”）是指从体外受精植入前胚胎活检的单个或少量细胞的HLA分型。该程序的目的是建立一种妊娠，其中胎儿与需要造血干细胞移植（HSCT）的患病同胞HLA相容。在PGT-M-HLA期间，将HLA相容性胚胎的鉴定与免疫缺陷和血红蛋白病潜在突变的检测结合起来。我们报告了从1998年至2017年进行的PGT-（M-）HLA程序的回顾性和前瞻性队列研究，并随访至2019年。在研究期间，邀请了22个国家的234对夫妇进行多学科咨询。拒绝了两对夫妇，拒绝了70对夫妇（出于各种原因），剩下162对夫妇进行了414个临床周期。在大多数情况下（98.7％）采用卵裂期活检，然后进行单细胞多重PCR进行基于短串联重复的单倍型分析。诊断效率很高（94.8％），但是只有16.5％的胚胎在遗传上适合转移。新鲜和冷冻融化的胚胎移植导致67例临床妊娠，63例分娩和74例活产，其中60例与HLA相容。这样每次转移的活产分娩率为30.3％。有关匹配的PGT-（M-）HLA儿童的新生儿特征的信息显示出令人放心的结果。到目前为止，HSCT已成功进行了26例中的25例。总之，我们的数据表明PGT-（M-）HLA是一种有价值的程序：