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目的探讨不同产前诊断指征对高龄孕妇(Advanced maternal age,AMA)胎儿染色体异常核型的预测价值。方法收集2006年1月至2015年12月在我院进行羊膜腔穿刺术的高龄孕妇的病史资料,按不同产前诊断指征分为5组,统计分析各组胎儿染色体异常核型的发生风险。结果 1172例高龄孕妇中,共检出胎儿染色体异常核型42例,异常发生率为3.58%,其中非整倍体31例,占染色体异常总数的73.81%。不同指征组胎儿非整倍体发生率,高龄为唯一指征组最低(0.90%),高龄伴无创DNA检测(NIPT)异常组最高(84.62%)。结论高龄孕妇积极参加血清筛查、超声检查、NIPT等产前筛查,可以有效提高非整倍体胎儿的检出率。
Objective To investigate the predictive value of different prenatal diagnosis indications for fetal chromosomal abnormality karyotype in advanced maternal age (AMA). Methods The data of the elderly pregnant women who underwent amniocentesis in our hospital from January 2006 to December 2015 were collected and divided into five groups according to different prenatal diagnosis indications. The risk of fetal karyotype abnormalities in each group was statistically analyzed . Results Among 1172 pregnant women, 42 cases of fetal chromosomal abnormalities were found, the abnormality rate was 3.58%, of which 31 cases were aneuploidy, accounting for 73.81% of the total number of chromosomal abnormalities. The rates of fetal aneuploidy in different indications group were the lowest (0.90%) in the elderly group and 84.62% in the elderly group with non-invasive DNA test (NIPT). Conclusion The elderly pregnant women actively participate in serum screening, ultrasound examination, NIPT and other prenatal screening, can effectively improve the detection rate of aneuploid fetus.