Delgado Andrea, Llerena Guillermo, Lopez Rosmary, Portella Jimmy, Inoue Naomi, Noriega-Hoces Luis, Guzman Luis
PRANOR Laboratorio. Grupo de Reproducción Asistida. San Isidro. Lima. Peru.
Clinica Concebir. Calle Los Olivos 364. San Isidro. Lima 31. Peru.
JBRA Assist Reprod. 2017 Dec 1;21(4):370-375. doi: 10.5935/1518-0557.20170063.
PGD for HLA typing is a procedure that can be performed when an affected child requires a transplant to treat a non-hereditary disorder related to the hematopoietic and/or immune system. Hematopoietic stem cell transplantation from an HLA-identical donor provides the best treatment option. Three conventional ovarian stimulation procedures for IVF were performed in a couple with a 10-year-old child diagnosed with T-cell acute lymphoblastic leukemia of high risk. Trophectoderm biopsy and aCGH examination were performed on 15 blastocysts, three on the first IVF procedure, four on the second cycle, and eight on the third. Three euploid blastocysts HLA-compatible with the genome of the affected child were identified. One euploid blastocyst HLA-compatible with the affected child was warmed and transferred, resulting in an HLA-matched live birth. In conclusion, combined aCGH for aneuploidy screening and Karyomapping may be performed in a single biopsy procedure.
用于 HLA 分型的植入前基因诊断（PGD）是一种在患病儿童需要移植以治疗与造血和/或免疫系统相关的非遗传性疾病时可进行的程序。来自 HLA 匹配供体的造血干细胞移植提供了最佳治疗选择。对一对有一个 10 岁被诊断为高危 T 细胞急性淋巴细胞白血病孩子的夫妇进行了三种常规的体外受精卵巢刺激程序。对 15 个囊胚进行了滋养外胚层活检和比较基因组杂交（aCGH）检查，第一次体外受精程序有 3 个，第二个周期有 4 个，第三个周期有 8 个。鉴定出 3 个与患病儿童基因组 HLA 匹配的整倍体囊胚。将 1 个与患病儿童 HLA 匹配的整倍体囊胚解冻并移植，结果产下了一个 HLA 匹配的活产婴儿。总之，可在单次活检程序中联合进行用于非整倍体筛查的 aCGH 和核型定位分析。
