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染色体易位携带者有较高的发生不良妊娠结局的风险,主要源自高概率的非均衡配子。对于染色体易位的携带者,进行胚胎植入前遗传学诊断(preimplantation genetic diagnosis,PGD)可以改善妊娠结局。目前,临床应用的非平衡易位诊断的方法主要有比较基因组杂交微阵列(comparative genomic hybridization array,array CGH)、单核苷酸多态性微阵列(single nucleotide polymorphism array,SNP array)和二代测序(next generation sequencing,NGS);荧光原位杂交(fluorescence in situ hybridization,FISH),能够区分平衡易位和正常胚胎,可能实现的技术有NGS。此外,平衡易位的诊断是否有必要开展尚存在争议。
Chromosomal translocation carriers have a higher risk of adverse pregnancy outcomes, mainly from highly probable unbalanced gametes. For carriers of chromosomal translocations, preimplantation genetic diagnosis (PGD) improves pregnancy outcomes. Currently, the methods for the diagnosis of non-equilibrium translocation in clinical application mainly include comparative genomic hybridization array (array CGH), single nucleotide polymorphism array (SNP array) Next generation sequencing (NGS); fluorescence in situ hybridization (FISH) is a technique that allows the identification of equilibrium translocations and normal embryos. Possible technologies are NGS. In addition, it remains controversial whether the diagnosis of balanced translocation is necessary.