摘要
目的探讨无创产前检测和FISH技术在胎儿染色体非整倍体检测中的临床应用价值。方法选择2016年10月-2017年10月自愿参与NIPT检测孕妇4807例,对NIPT检测结果高风险孕妇行羊膜腔穿刺术,应用染色体核型分析和FISH分析对NIPT结果进行验证,对NIPT检测结果低风险者进行常规随访。结果 4787例孕妇共检出65例(1.34%)染色体数目异常高风险胎儿,包括1例13-三体、8例18-三体、18例21-三体,38例性染色体异常。59例孕妇接受进一步的羊膜腔穿刺术及产前诊断,穿刺率为1.23%(60/4787)。介入性产前诊断确诊1例13-三体、6例18-三体、16例21-三体和13例性染色体异常胎儿,阳性预测值分别是:100%、85.7%、88.9%和39.4%。NIPT检测结果提示2例21-三体嵌合体和1例18-三体嵌合体,利用FISH技术检测均证实为低比例嵌合体。其中345例唐氏筛查高风险孕妇,NIPT检测出6例高风险孕妇经产前诊断确诊,其余为低风险孕妇通过常规随访得到验证。结论无创产前基因检测在胎儿染色体非整倍体疾病检测中具有很高的灵敏度、特异性,联合FISH技术可以快速准确确诊染色体非整倍体,值得临床应用推广,降低先天性缺陷儿出生率。
Objective：To determine the clinical value of non-invasive prenatal test（NIPT）and Fluorescence in situ hybridization（FISH）for the diagnosis of Fetal Chromosoma I Aneuploidy. Methods：From October 2016 to October 2017,4807 pregnant women volunteered to participate in the study. Amniocentesis was performed on high-risk pregnant women following NIPT. NIPT results were verified by karyotype analysis and FISH analysis. Low-risk patients were routinely followed up after birth. Results：65 of 4787 cases were in high-risk fetal abnormal chromosome aneuploidy（1.34%）,including 1 case of 13-trisomy,8 cases of 18-trisomy,18 cases of 21-trisomy,and 38 cases of sex chromosome abnormalities. 59 cases underwent amniocentesis and prenatal diagnosis. The puncture rate was 1.23%（59/4787）. 1 with trisomy 13,6 with trisomy 18,16 with trisomy 21 and 13 cases of fetuses with abnormal sex chromosomes were validated by prenatal diagnosis. The positive predictive values were：100%,85.7%,88.9%,and 39.4%. The result of NIPT test showed that 2 with mosaic trisomy 21 and 1 with mosaic trisomy 18 were confirmed by FISH. 345 pregnant women with high-risk following serum screening,of these 6 fetal aneuploidy cases were diagnosed by prenatal diagnosis,and the remaining low-risk pregnant women were verified by routine follow-up. Conclusion：Non-invasive prenatal genetic testing has high sensitivity and specificity in the detection of fetal aneuploidy,and combined with FISH can quickly and accurately diagnose aneuploidy of chromosomes. It is worthy of clinical application and promotion to reduce the birth rate of congenital defects.
作者
唐佳
孙淑湘
徐进美
黎箐
孙铁兰
李秋丽
杨金菊
陆叶
李小敏
赵少翠
凌颖聪
谭伟兰
李凌
莫忠游
曾钦龙
TANG Jia;SUN Shu-xiang;XU Jin-mei;LI Qing;SUN Tie-lan;LI qiu-li;YANG Jin-ju;LU Ye;LI Xiao-min;ZHAO Shao-cui;LING Ying-cong;TAN Wei-lan;LI Ling;MO Zhong-you;ZENG Qin-long(Medical Genetics Center,Jiangmen Maternity and Child health Care Hospital,Jiangmen 529000;Department of Medical Imaging Center,The First Affiliated Hospital of Jinan University,Guangzhou,Guangdong 510080,China)
出处
《中国优生与遗传杂志》
2018年第7期69-71,130,F0003,共5页
Chinese Journal of Birth Health & Heredity
基金
国家自然科学基金(81600404)
中国博士后科学基金(2017M622916)
2017年江门市留学归国人员创新创业项目启动类项目
2017年度江门市第四批医疗卫生科技计划项目(2017A3019
2017A4026)
江门市2017年第一批创新创业领军人才项目
