925例高龄孕妇介入性产前诊断结果分析  

Analysis of interventional prenatal diagnosis of 925 elderly pregnant women

作　　者：李淑霞 库尔兰·巴合提别克 苏比努尔·买买提 Li Shuxia;Uerlan·Bahetibieke;Subinuer·Maimaiti(Urumqi Maternal and Child Health Hospital,Prenatal Dia gnosis Center,Urumqi,Xinjiang 830000,China)

机构地区：[1]乌鲁木齐市妇幼保健院产前诊断中心,新疆维吾尔自治区乌鲁木齐830000

出　　处：《中国产前诊断杂志（电子版）》2022年第4期36-40,共5页Chinese Journal of Prenatal Diagnosis(Electronic Version)

摘　　要：目的探讨不同产前诊断指征、不同年龄阶段的高龄孕妇胎儿染色体异常的发生情况,并对临床意义不明确的拷贝数变异(variant of uncertain significance,VUS)病例进行家系验证、随访妊娠结局,为高龄孕妇的临床遗传咨询提供参考依据。方法选取2019年至2021年在乌鲁木齐市妇幼保健院行胎儿染色体核型分析和CMA检测的高龄孕妇共925例,按不同的产前诊断指征及年龄段进行分组比较,分析每组胎儿染色体异常的发生情况,并对VUS病例进行家系验证及随访。结果925例孕妇中共检出胎儿染色体核型异常者124例(13.41%),包括染色体非整倍体异常80例(8.65%),其中单纯高龄组4例,高龄合并超声异常组27例,高龄合并无创DNA高风险组46例,高龄合并不良孕产史组2例,高龄合并夫妇一方染色体易位携带者1例,检出胎儿染色体结构异常44例。孕妇年龄介于35~40岁之间胎儿染色体非整倍体异常的发生率为7.25%,≥40岁时胎儿染色体非整倍体发生率为11.14%,P<0.05。共报告63例VUS,30例进行家系验证其中16例来源于父母,2例新发突变病例引产,其余随访时未发现明显异常。结论单纯高龄的孕妇胎儿染色体非整倍体异常的发生率不到1%,当合并胎儿超声异常时风险显著升高,高龄伴无创DNA异常的胎儿非整倍体检出率最高。胎儿染色体非整倍体异常的风险随孕妇年龄的增加而升高。对于CMA检测中出现的VUS,在遗传咨询中建议夫妻双方进行家系验证为临床遗传咨询提供参考依据。Objective To investigate the incidence of fetal chromosomal abnormalities in advanced maternal age women with different prenatal diagnostic indications and different ages,and to verify the pedigree of cases of variant of unclear clinical significance(VUS)and follow up the pregnancy outcome,which provided a reference for clinical prenatal diagnosis and genetic counseling.Methods To collect 925 advanced maternal age women who underwent fetal karyotype analysis and CMA detection in our hospital from 2019 to 2021.According to different prenatal diagnostic indications and age groups,the incidence of fetal chromosomal abnormalities in each group was analyzed,and Family verification and follow-up were performed for VUS cases.Results Among 925 pregnant women,124(13.41%)were found to have abnormal fetal karyotype,including 80(8.65%)with chromosomal aneuploidy.Among them,there were 4 cases in the simple old age group,27 cases in the old age combined with abnormal ultrasound,46 cases in the old age combined with high risk of noninvasive DNA,2 cases in the old age combined with history of adverse pregnancy and childbirth,1 case in the old age combined with one chromosome translocation carrier of the couple,and 44 cases of abnormal fetal chromosome structure were detected.The incidence of fetal chromosomal aneuploidy was 7.25%in pregnant women aged 35-39 years,and 11.14%in those aged≥40 years(P<0.05).A total of 63 cases of VUS were reported.Family verification was carried out in 30 cases,of which 16 cases came from their parents,2 cases of new mutation induced labor,and no obvious abnormality was found in the rest of the follow-up.Conclusion The incidence of fetal chromosomal aneuploidy in simple elderly pregnant women is less than 1%,and the risk is significantly increased when combined with fetal ultrasound abnormalities.The highest detection rate of fetal aneuploidy is in the elderly with noninvasive DNA abnormalities.The risk of fetal aneuploidy increases with the age of pregnant women.For VUS in CMA test,it is suggeste

关 键 词：高龄孕妇 产前诊断 染色体核型异常 拷贝数变异 

分 类 号：R715.5[医药卫生—妇产科学]