【摘要】 目的应用多重连接依赖式探针扩增技术(MLPA)检测流产胚胎染色体非整倍体畸变,并结合孕妇年龄、孕周等帮助流产患者分析流产的遗传学病因,为遗传咨询提供依据。方法收集早孕期流产孕妇的绒毛组织样本,提取基因组DNA,应用MLPA(P036、P070)两个试剂盒探针进行染色体非整倍体畸变检测,结合孕妇年龄、孕周指标等进行统计分析。结果本次研究共收集774例样本,检测成功率为98.97%(766/774),异常检出率52.09%(399/774),其中染色体非整倍体畸变50.26%,核型为47,XN,+16最多见,其次为47,XN,+22和45,XO,同时可检测出染色体单体、染色体双三体、嵌合体、染色体部分缺失/重复等多种染色体异常。孕妇在小于20岁和大于35岁年龄段中流产率较高(P<0.05)。孕周小于12周流产胚胎中染色体异常检出率明显高于≥12周的染色体异常检出率(P<0.05)。结论染色体畸变是早期流产最常见的遗传学病因,染色体畸变类型较多,非整倍体最常见,孕妇在低年龄段和高龄段,妊娠早期染色体畸变率较高。更多还原

【Abstract】 Objective Using a multiple ligation-dependent probe amplification method(MLPA)to detect chromosomes in abortive embryos,and the genetic etiology of abortion was analyzed in combination with maternal age,gestational age to assist in further genetic counseling. Methods The villus tissue samples of spontaneous abortion embryos in early pregnancy were collected and genomic DNA was extracted and tested using two kit probes,MLPA(P036,P070),combined with further analysis of statistics such as age and gestational age. Results A total of 774 samples were collected in this study,with a detection success rate of 98.97%(766/774)and an abnormal detection rate of 52.09%(399/774). The chromosomal aneuploidy anomaly was 50.26%,the karyotype 47,XN,+ 16 were the most common. Chromosomal monomer,chromosome trisomes,chimeras,other complex aneuploids,deletion/duplication chromosomes and other chromosomal abnormalities were detected. Pregnant women have higher abortion rates in the age group of less than 20 years old and older than 35 years old. The detection rate of chromosomal abnormalities in aborted embryos less than 12 weeks gestation was significantly higher than that of ≥12 weeks(P<0.05),and in each type of abnormality. Conclusion Chromosome aberration is the most common genetic cause of early spontaneous abortion. There are many types of chromosomal aberrations and aneuploidy is the most common. Pregnant women in the lower ages and advanced age,the rate of chromosomal aberrations is higher in early pregnancy.更多还原