反复种植失败患者经植入前遗传学筛查获妊娠的研究  

Blastocyst preimplantation genetic screening(PGS) of a recurrent implantation failure(RIF) couple

作　　者：陈大蔚[1] 章志国[1] 邹薇薇[1] 叶四云[1] 魏兆莲[1] 丛林[1] 周平[1] 曹云霞[1] 

机构地区：[1]安徽医科大学第一附属医院生殖中心,合肥230022

出　　处：《中华临床医师杂志（电子版）》2015年第6期20-23,共4页Chinese Journal of Clinicians(Electronic Edition)

基　　金：国家自然科学基金青年科学基金培养计划(2012KJ06)

摘　　要：目的通过微阵列比较基因组杂交技术进行胚胎植入前遗传学筛查（PGS）使反复种植失败夫妇获得后代。方法 1例继发性不孕、慢性输卵管炎患者经常规体外受精和胚胎移植（IVF-ET）治疗3个周期均未获妊娠。夫妇双方检查染色体核型正常。本周期对卵母细胞质内单精子注射（ICSI）受精后第5天（D5）或第6天（D6）,选择适宜活检的囊胚进行活检,每个囊胚取出3-5个胚胎滋养层细胞。经细胞裂解及全基因组扩增后,对扩增产物进行荧光标记,与微阵列比较基因组芯片进行杂交（a CGH）,并对杂交后的芯片进行扫描和结果分析。最终选择整倍体的平衡胚胎进行移植。结果经控制性促排卵后获卵24个,成熟24个,ICSI后正常受精14个,有13个正常受精卵发生卵裂,D5接受胚胎活检的囊胚有2个,D6接受活检的囊胚有2个。活检后胚胎均行玻璃化冷冻超低温保存。a CGH检查显示平衡的整倍体胚胎共2个,其中1枚为D5胚胎,另1枚为D6胚胎。活检后3个月行胚胎解冻移植,移植1枚D6胚胎。移植后第14天患者尿人体绒毛膜促性腺激素（HCG）示阳性,移植后第35天经阴道超声见1个孕囊并可见胚芽及原始心管搏动,为单胎妊娠。结论 反复种植失败患者可通过植入前遗传学筛查获得临床妊娠。Objective To evaluate the utility of trophectoderm biopsy and array CGH for preimplantation genetic screening（PGS） of recurrent implantation failure couples. Methods A couple normal karyotype patients with secondary infertility and chronic salpingitis had not been pregnant after three cycles of in vitro fertilization and embryo transfer（IVF-ET）. This cycle they were treated with intracytoplasmic sperm injection（ICSI）, trophectoderm biopsy and array CGH for preimplantation genetic screening. Three to five trophectoderm cells were biopsied for each blastocyst on day 5 or day 6. After cell lysis and whole genome amplification, the PCR products of each sample were labeled with cy3 or cy5 for hybridization of array comparative genomic microarray. The fluorescence signals were scanned and analyzed for the choice of balanced euploid embryo for transplantation. Results 24 mature oocytes were collected by transvaginal oocyte collection. After ICSI, 14 of them were fertilized. Trophectoderm biopsy and was performed on 2 D5 blastocysts and 2 D6 blastocysts, followed by vitrification cryopreservation.Array CGH revealed that 2 of biopsied blastocysts were balanced and euploid, one from D5 and the other from D6. Three months after biopsy, the frozen euploid embryo was thawed for transfer. Fourteenth days after transfer, the patient＇s urinary human chorionic gonadotropin（HCG） was positive. Thirty-fifth days after transfer, a gestational sac with visible germ and primitive heart tube pulse was shown by transvaginal ultrasound, suggesting singleton pregnancy. Conclusion This study represents a successful clinical application of PGS on RIF patient and supports the applicability of blastocyst trophectoderm PGS for RIF patients.

关 键 词：植入前遗传学筛查 植入前遗传学诊断 微阵列比较基因组杂交 反复种植失败 

分 类 号：R714.8[医药卫生—妇产科学]