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胚胎植入前 HLA 分型 7 年经验:327 个周期的临床概述。

Seven years of experience of preimplantation HLA typing: a clinical overview of 327 cycles.

机构信息

In Vitro Fertilisation Unit, Istanbul Memorial Hospital, Piyalepasa Bulvari, Sisli, Istanbul, Turkey.

出版信息

Reprod Biomed Online. 2011 Sep;23(3):363-71. doi: 10.1016/j.rbmo.2011.05.016. Epub 2011 Jun 15.

DOI:10.1016/j.rbmo.2011.05.016
PMID:21782513
Abstract

Preimplantation human leukocyte antigen (HLA) typing allows the birth of healthy children who are potential donors of stem cells for their affected siblings. This technique can be used for acquired diseases such as leukaemia or can be used for single-gene disorders such as thalassaemia. This retrospective study presents clinical data obtained from 171 couples who had undergone 327 preimplantation HLA typing cycles: 262 cycles for HLA typing in combination with mutation analysis and 65 cycles for the sole purpose of HLA typing. Of the diagnosed embryos 17.6% were found to be HLA matched. Embryo transfer was performed in 212 cycles, 34.9% clinical pregnancy rate per transfer was achieved and 59 healthy and HLA-compatible children were born. Twenty-one sick children have been cured through haemopoietic stem cell transplantation. The effect of maternal age and ovarian reserve on reproductive outcome was assessed retrospectively. The data demonstrated that, once a mutation-free and HLA-compatible embryo was found, clinical pregnancy rate did not differ statistically significantly despite the presence of some cycle-related limitations such as advanced maternal age and/or diminished ovarian reserve. Preimplantation HLA typing is an effective therapeutic tool for curing an affected sibling even for poor-prognosis patients. Preimplantation human leukocyte antigent (HLA) typing allows the birth of healthy children who are potential donors of stem cells for their affected siblings. This technique can be used for acquired diseases such as leukaemia or can be used for single-gene disorders such as thalassaemia. This study presents clinical data obtained from 171 couples who underwent 327 preimplantation HLA-typing cycles. Of these, 262 cycles were performed for HLA typing in combination with mutation analysis and 65 cycles were performed for the sole purpose of HLA typing. A total of 17.6% of the diagnosed embryos were found to be HLA matched. Embryo transfer was performed in 212 cycles. The clinical pregnancy rate per transfer was 34.9% and 59 healthy and HLA compatible children were born. Twenty-one sick children have been cured through haemopoietic stem cell transplantation. The effect of maternal age and ovarian reserve on reproductive outcome was assessed retrospectively. The data demonstrated that, once a mutation-free and HLA-compatible embryo was found, clinical pregnancy rates did not differ statistically significantly by the presence of some cycle-related limitations such as advanced maternal age and/or diminished ovarian reserve. Preimplantation HLA typing is an effective therapeutic tool for curing an affected sibling even for poor-prognosis patients.

摘要

胚胎植入前人类白细胞抗原(HLA)分型可使健康婴儿出生,这些婴儿可成为其患病同胞的干细胞供体。该技术可用于治疗白血病等获得性疾病,也可用于治疗地中海贫血等单基因疾病。本回顾性研究提供了 171 对夫妇的临床数据,他们共进行了 327 个胚胎植入前 HLA 分型周期:262 个周期用于 HLA 分型结合突变分析,65 个周期仅用于 HLA 分型。在诊断出的胚胎中,有 17.6%是 HLA 匹配的。212 个周期进行了胚胎移植,每个移植周期的临床妊娠率为 34.9%,共诞生了 59 名健康且 HLA 匹配的儿童。21 名患病儿童通过造血干细胞移植得到治愈。本研究回顾性评估了母亲年龄和卵巢储备对生殖结局的影响。数据表明,一旦找到无突变且 HLA 匹配的胚胎,尽管存在一些与周期相关的限制因素,如母亲年龄较大和/或卵巢储备减少,但临床妊娠率并无统计学差异。胚胎植入前 HLA 分型是治愈患病同胞的有效治疗手段,即使是预后不良的患者也能从中受益。

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