【摘要】：染色體易位攜帶者有較高的發(fā)生不良妊娠結(jié)局的風(fēng)險(xiǎn),主要源自高概率的非均衡配子。對(duì)于染色體易位的攜帶者,進(jìn)行胚胎植入前遺傳學(xué)診斷(preimplantation genetic diagnosis,PGD)可以改善妊娠結(jié)局。目前,臨床應(yīng)用的非平衡易位診斷的方法主要有比較基因組雜交微陣列(comparative genomic hybridization array,array CGH)、單核苷酸多態(tài)性微陣列(single nucleotide polymorphism array,SNP array)和二代測(cè)序(next generation sequencing,NGS);熒光原位雜交(fluorescence in situ hybridization,FISH),能夠區(qū)分平衡易位和正常胚胎,可能實(shí)現(xiàn)的技術(shù)有NGS。此外,平衡易位的診斷是否有必要開(kāi)展尚存在爭(zhēng)議。
[Abstract]:Chromosome translocation carriers have a higher risk of adverse pregnancy outcomes, mainly due to high probability of unbalanced gametes. For chromosomal translocation carriers, pre-implantation genetic diagnosis of (preimplantation genetic diagnosis,PGD) may improve pregnancy outcomes. At present, the main diagnostic methods of non-equilibrium translocation in clinical use are comparative genomic hybridization microarray (comparative genomic hybridization array,array CGH), single nucleotide polymorphism microarray (single nucleotide polymorphism array,SNP array and second-generation sequencing (next generation sequencing,NGS). Fluorescent in situ hybridization (fluorescence in situ hybridization,FISH), which can distinguish balanced translocation from normal embryos, possible techniques include NGS. In addition, whether the diagnosis of balanced translocation is necessary is still controversial.
【作者單位】： 中國(guó)人民解放軍總醫(yī)院婦產(chǎn)科;山西省婦幼保健院生殖醫(yī)學(xué)中心;第四軍醫(yī)大學(xué)唐都醫(yī)院婦產(chǎn)科;
【基金】：全軍“十二五”重點(diǎn)項(xiàng)目,項(xiàng)目號(hào):BWS11J058
【分類(lèi)號(hào)】：R714.8

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本文編號(hào)：2427603