不同产前诊断指征对高龄孕妇的临床意义  

The clinical significance of different prenatal diagnosis indication of advanced maternal age

作　　者：陈慧[1] 冯谦谨[1] 苏年华[1] 季明芳[1] 李晓玲[1] 

机构地区：[1]广东省中山市人民医院肿瘤研究所,广东中山528400

出　　处：《中国优生与遗传杂志》2017年第5期83-84,共2页Chinese Journal of Birth Health & Heredity

摘　　要：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 explore the predictive value of diverse prenatal indications in detecting the fetal chromosomal abnormalities in AMA. Methods： The clinical data of AMA undergoing amniocentesis in our hospital from January 2006 to December 2015 were collected retrospectively, and evaluated the risk of fetal abnormal chromosome karyotype in AMA with 5 different prenatal indications. Results： Of 1172 cases with advanced maternal age （ 〉/35 ） , 42 cases of chromosomal abnormal karyotype accounted for 3.58%. 31 cases of aneuploidies were detected （73.81%, 31/42） . The lowest incidence rate of aneuploidies in 5 different indications groups was 0.9% （AMA alone） , and the highest was 84.62% （NIPT abnormal of AMA） . Conclusions： Making antenatal screening including serum screening, ultrasound and NIPT can effectively improve the detection rate of chromosome aneuploidies in AMA.

关 键 词：高龄孕妇 染色体核型 产前诊断 指征 

分 类 号：R714.5[医药卫生—妇产科学]