摘要
目的:探讨高危孕妇不同产前诊断指征与羊水细胞异常核型发生频率及类型的关系。方法:回顾性分析4943例因不同高危因素在温州市中心医院行产前诊断的孕妇临床病例资料。结果:检出异常核型182例,异常检出率为3.68%。无创DNA高风险组异常率最高(为90.47%),另有12例因无创DNA提示性染色体异常行羊水穿刺后提示异常率为75.00%,超声异常组的异常率为7.61%,高龄组异常率为3.43%,唐氏筛查21-三体高风险组异常率为3.09%,唐氏筛查18-三体高风险组异常率为2.28%,不良孕产史组异常率为0.37%。无创DNA高风险组的染色体异常率最高,其次是超声异常组。结论:无创DNA不能完全代替羊水细胞核型分析,羊水细胞核型分析仍是检测胎儿染色体异常的金标准;高龄孕妇胎儿染色体容易突变,建议直接行产前诊断,对有超声异常或者高龄者建议加做基因芯片。
Objective: To explore how different prenatal diagnostic indications are related to the frequency and type of abnormal karyotype of amniotic fluid cells in high-risk pregnant women. Methods: A retrospective analysis was made on the clinical data of 4943 cases receiving prenatal diagnosis because of various risk factors in our hospital. Results: A total of 182 cases were diagnosed as chromosomal abnormalities, with the detection rate being 3.68%. The highest abnormality rate was 90.47% in the non-invasive DNA high-risk group, and in the other 12 cases the abnormality rate was 75% after amniocentesis due to non-invasive DNA indicated sex chromosomal abnormalities. The abnormal rate was 7.61% in the ultrasound abnormal group, 3.43% in the elderly group, 3.09% in the down-screening 21-trisomy high-risk group, 2.28% in the down-screening 18-trisomy high-risk group, and 0.37% in the adverse pregnancy history group. The non-invasive DNA high-risk group had the highest chromosomal abnormality rate, followed by the ultrasound abnormality group. Conclusion: The non-invasive DNA could not completely replace the amniotic fluid cell karyotype analysis, which was considered the gold standard for detecting the fetal chromosomal abnormality. The fetal chromosomes in elderly pregnant women were prone to mutations. It is recommended that prenatal diagnosis be performed directly, and meanwhile, extra gene chips are recommended for those with ultrasound abnormalities or the elderly pregnant women.
作者
陈杨萍
徐峰
唐少华
徐雪琴
CHEN Yangping;XU Feng;TANG Shaohua;XU Xueqin(Department of Obstetrics and Gynecology,Wenzhou Central Hospital,Wenzhou 325000,China;Center of Prenatal Diagnosis,Wenzhou Central Hospital,Wenzhou 325000,China)
出处
《温州医科大学学报》
CAS
2019年第10期756-759,共4页
Journal of Wenzhou Medical University
基金
温州市科技计划项目(Y20180300)
关键词
产前诊断
羊水穿刺
染色体异常
基因芯片
prenatal diagnosis
amniotic fluid puncture
chromosome abnormalities
gene chip
