摘要
目的了解柳州地区行产前诊断胎儿羊水染色体非整倍体异常核型检出情况,分析不同产前诊断指征与染色体非整倍体异常核型的关系。方法选择2017年1月至2018年11月到我院就诊符合产前诊断指征的孕妇8629名,行羊膜腔穿刺检查胎儿染色体核型。结果染色体非整倍体异常核型检出率为3.03%(262/8629),包括203例常染色体非整倍体,59例性染色体非整倍体。其中三体综合征例数最多,占异常核型的77.48%(203/262),以21-三体最常见,为152例,占异常核型比例为58.01%。非整倍体异常核型检出率由高到低的产前诊断指征分别为:高龄妊娠、NIPT高风险、唐氏筛查临界/高风险、B超异常等。结论联合不同产前筛查手段、严格掌握产前诊断指征对提高染色体非整倍体的检出,减少出生缺陷具有重要意义。染色体核型分析目前仍是诊断胎儿染色体非整倍体异常的'金标准'。
Objective:To understand the karyotypes of aneuploidy abnormality in fetal amniotic fluid before prenatal diagnosis in Liuzhou area,and to analyze the relationship between different prenatal diagnostic indications and abnormal karyotypes of chromosome aneuploidy.Methods:From January 2017 to November 2018,we chose 8629 pregnant women who met the indications for prenatal diagnosis in our hospital.The amniocentesis was used to check the fetal karyotype.Results:The karyotype of chromosomal aneuploidy was 3.03%(262/8629),including 203 autosomal aneuploidy and 59 sex chromosome aneuploidy.Among them,the number of three-body syndrome cases was the highest,accounting for 77.48%(203/262)of abnormal karyotypes,and the most common of 21-trisomies was 152 cases,accounting for 58.01%of abnormal karyotypes.The indications for prenatal diagnosis of aneuploidy abnormal karyotype detection rate from high to low were:advanced pregnancy,high risk of NIPT,Down′s screening critical/high risk,and B-ultrasound abnormality.Conclusion:Combining different prenatal screening methods and strictly controlling the indications of prenatal diagnosis are important for improving the detection of chromosome aneuploidy and reducing birth defects.Karyotype analysis is still the'gold standard'for diagnosing fetal chromosome aneuploidy abnormalities.
作者
李亚星
徐玉婵
韦小妮
王文丹
蔡稔
LI Ya-xing;XU Yu-chan;WEI Xiao-ni;WANG Wen-dan(Key Laboratory of Birth Defect Prevention and Control,Liuzhou Maternal and Child Health Care Hospital,Liuzhou,Guangxi,545001;Medical Heredity Department,Liuzhou Maternal and Child Health Care Hospital,Liuzhou,Guangxi,545001)
出处
《中国优生与遗传杂志》
2019年第9期1057-1059,共3页
Chinese Journal of Birth Health & Heredity
基金
柳州市科技重大专项项目(2018AF10501)
广西壮族自治区卫生和计划生育委员会自筹经费科研课题(Z2015192)
关键词
染色体非整倍体
产前诊断指征
无创产前基因检测
超声异常
Chromosomal aneuploidy
Prenatal diagnosis indication
Non-invasive prenatal genetic testing
Ultrasound abnormality
