【摘要】 胚胎植入前遗传学诊断(PGD)和筛查(PGS)是近20余年发展的一种具有较低危险度的植入前遗传学检测方法。该方法对卵母细胞或者植入前胚胎进行活检,利用分子生物学技术进行检测,对遗传物质进行分析,选择遗传信息正常的胚胎植入女方子宫,以避免妊娠有"病"的胎儿,同时提高妊娠率和活产率,降低流产率和多胎率。其主要适用于高龄、反复流产、反复植入失败和有遗传病史的夫妇等。综述在PGD和PGS中所应用的荧光原位杂交(FISH)、聚合酶链反应(PCR)、比较基因组杂交(CGH)、微阵列CGH(arrayCGH)、单核苷酸多态性-微阵列(SNP-array)和高通量测序等方法。各种技术方法均有其优缺点和适用范围,单细胞高通量测序技术以其高度的敏感性、准确性、灵活性等特点显示出巨大的优势,随着该技术的进一步完善和成熟,将成为PGD/PGS的一个强有力的检测手段。更多还原

【Abstract】 Preimplantation genetic diagnosis /preimplantation genetic screening(PGD/PGS) is a low-risk technique of early preimplantation detection developed in recent 20 years. It needs to do firstly the biopsy oocyte or preimplantation embryo,then to analyze genetic information by molecular biological technique. At last, those normal embryos were chosen for transplantation. PGD/PGS can avoid the pregnancies of those genetically sick babies,improve the pregnancy rate and the live-birth rate,and can reduce the miscarriage rate and the multiplegestation rate. This technique is mainly used for the elderly,recurrent miscarriage,repeated implantation failure patients and the couples with high-risk genetic diseases. We summarized those methods used in PGD/PGS,including FISH,PCR,CGH,array-CGH,array-SNP and high-throughput sequencing. All kinds of methods have their own application fields, merits and shortcomings. The single-celled high-throughput sequencing technology shows its obvious advantage in high sensitivity,accuracy and flexibility,which should become a powerful detection means in PGD/PGS with its further development and maturation.更多还原