产前胎儿羊水染色体核型分析20849例  

Analysis of amniotic fluid chromosome karyotyping results in 20849 prenatal fetuses

作　　者：殷贵霞 吴玥丽[1] 麻雪利 朱重阳 吕虹 刘灵[1] 赵玲[1] YIN Guixia;WU Yueli;MA Xueli;ZHU Chongyang;LYU Hong;LIU Ling;ZHAO Ling(Prenatal Diagnosis Center,the Third Affiliated Hospital,Zhengzhou University,Zhengzhou 450052)

机构地区：[1]郑州大学第三附属医院产前诊断中心,郑州450052

出　　处：《郑州大学学报（医学版）》2023年第2期233-237,共5页Journal of Zhengzhou University(Medical Sciences)

基　　金：浙江省重点研发计划项目(2021C3030)。

摘　　要：目的:了解河南省产前胎儿异常核型的检出情况,分析不同产前诊断指征染色体异常核型检出情况。方法:收集20 849例行羊膜腔穿刺术孕妇的产前胎儿羊水染色体核型分析结果,分析异常核型的检出率及不同产前诊断指征的检出情况,对比不同染色体核型分析方法的报告周期。结果:羊水样本培养成功率为99.76%(20 800/20 849);异常核型检出率为5.24%(1 090/20 800),其中数目异常593例,占54.40%,结构异常372例,占34.13%,嵌合体125例,占11.47%;染色体多态性检出率为4.16%(866/20 800)。不同产前诊断指征组异常核型检出率分别为:无创高风险组36.61%,夫妻染色体异常组35.12%,超声异常组5.41%,不良孕产史组2.98%,血清学筛查高风险组2.87%,高龄组1.92%,其他组4.47%,两项及以上异常组25.44%。结论:河南省产前胎儿染色体异常的检出率较高,无创高风险和夫妻染色体异常的检出率较高。Aim:To investigate the abnormal karyotype detection of prenatal fetuses in Henan Province and analyze the relationship between different prenatal diagnostic indications and chromosomal abnormal karyotype.Methods:The chromosome karyotype analysis results of prenatal fetal amniotic fluid from^(2)0849 pregnant women undergoing amniocentesis were collected,the detection rate of abnormal karyotype and its relationship with different prenatal diagnostic indications were analyzed,and the reporting cycles of different chromosome karyotype analysis methods were compared.Results:The culture success rate of amniotic fluid samples was 99.76%(20800/20849).The detection rate of abnormal karyotype was 5.24%(1090/20800).There were 593 cases with numerical abnormality(54.40%),372 cases with structure abnormality(34.13%)and 125 cases with chimaera(11.47%).The detection rate of chromosome polymorphism was 4.16%(866/20800).The detection rates of abnormal karyotype in different prenatal diagnostic indication groups were:36.61%in non-invasive high-risk group,35.12%in the group of couples who had anomalous chromosomes,5.41%in ultrasound abnormality group,2.98%in adverse pregnancy history group,2.87%in serological screening high-risk group,1.92%in the advanced age group,and 4.47%in other groups.The detection rate was 25.44%in two or more abnormal indicators group.Conclusion:The detection rate of prenatal fetal chromosome abnormalities is still at a high level in Henan Province,which is the highest in those with non-invasive high risk and chromosome abnormality in couples.

关 键 词：染色体核型分析 产前诊断 人工智能 出生缺陷 

分 类 号：R714.55[医药卫生—妇产科学]