合并不同产前诊断指征的高龄孕妇胎儿染色体非整倍体发生风险的临床观察  

Risk of fetal chromosomal aneuploidy in elderly pregnant women with different prenatal diagnosis indications

作　　者：潘宏贵 朱行美 梁萍 董惠群 黄丽珍 Pan Honggui;Zhu Xingmei;Liang Ping;Dong Huiqun;Huang Lizhen(Hezhou Maternal and Child Health Care Hospital,Hezhou 542899,China)

机构地区：[1]广西壮族自治区贺州市妇幼保健院,542899

出　　处：《中国实用医刊》2020年第22期6-8,共3页Chinese Journal of Practical Medicine

基　　金：贺州市科学技术开发计划(191004)。

摘　　要：目的:观察合并不同产前诊断指征的高龄孕妇胎儿染色体非整倍体发生风险。方法:抽取2018年6月至2020年6月于贺州市妇幼保健院行胎儿细胞遗传学诊断的高龄孕妇2023例,其中35~39岁1474例,≥40岁549例;产前诊断指征:单纯高龄1041例,高龄合并不良孕史489例,高龄合并超声异常182例,高龄合并筛查高风险311例。统计并比较不同产前诊断指征孕妇胎儿染色体非整倍体发生情况。结果:2023例样本中检出异常核型73例(3.61%),其中胎儿非整倍体64例,占异常核型的87.67%(64/73)。21、18、13常染色体异常发生率为81.25%(52/64),性染色体非整倍体12例。高龄合并超声异常者胎儿非整倍体异常检出率(13.19%,24/182)高于其他孕妇,差异有统计学意义(P<0.05)。35~39岁孕妇胎儿非整倍体异常检出率为2.37%(35/1474),而年龄≥40岁孕妇检出率为5.28%(29/549),二者比较差异有统计学意义(χ2=11.284,P<0.05)。结论:孕妇高龄合并其他产前诊断指征,特别是合并超声指标异常时,胎儿染色体非整倍体的发生率增高,年龄≥40岁孕妇胎儿21、18、13三体的发生风险增加。Objective To analyze the risk of fetal chromosomal aneuploidy in elderly pregnant women with different prenatal diagnosis indications.Methods A total of 2023 elderly pregnant women who underwent fetal cytogenetic diagnosis in Hezhou Maternity and Child Health Hospital from June 2018 to June 2020 were selected.Among them,1474 cases were 35-39 years old and 549 cases were 40 years or older.Among the indications for prenatal diagnosis,there were 1041 cases of simple advanced age,489 cases of advanced age with adverse pregnancy history,and 182 cases of advanced age with abnormal ultrasound,and 311 cases of advanced age combined with high-risk screening.The occurrence of chromosomal aneuploidy in pregnant women with different prenatal diagnosis indications were counted and compared.Results Seventy-three cases(3.61%)of abnormal karyotypes were detected in 2023 samples,of which 64 cases were fetal aneuploidy,accounting for 87.67%(64/73)of abnormal karyotypes.The incidence of autosomal abnormalities in 21,18,and 13 was 81.25%(52/64),there were 12 cases of sex chromosome aneuploidy.The detection rate of fetal aneuploidy in elderly patients with ultrasound abnormalities(13.19%,24/182)was higher than that of other pregnant women,and the difference was significant(P<0.05).The detection rate of fetal aneuploidy in pregnant women aged 35 to 39 was 2.37%(35/1474),while the detection rate of pregnant women over 40 years old was 5.28%(29/549).There was statistically significant difference between the two(χ2=11.284,P<0.05).Conclusions The incidence of chromosomal aneuploidy is significantly increased when pregnant women are combined with other prenatal diagnostic indications,especially when combined with abnormal ultrasound indicators,and when pregnant women over 40 years old,chromosomal aneuploidy is increased,such as trisomy 21,18 and 13.

关 键 词：染色体 非整倍体异常 核型 

分 类 号：R737.31[医药卫生—肿瘤]