95例NIPT高风险者羊水染色体检测结果分析  

Amniotic fluid chromosome detection for 95 NIPT high-risk pregnant women

作　　者：蓝慧娟[1,2] 邵聪文[1,2] 王辉林[1,2] 严泽浩 谢淑萍[1,2] 熊礼宽[1,2] 

机构地区：[1]广东省深圳市宝安区妇幼保健院中心实验室,广东深圳518102 [2]深圳市出生缺陷医学研究重点实验室,广东深圳518102

出　　处：《国际检验医学杂志》2017年第13期1749-1750,1753,共3页International Journal of Laboratory Medicine

基　　金：广东省科技计划项目(2013B022000010);深圳市宝安区科技计划项目(2013064)

摘　　要：目的分析无创产前检测(NIPT)高风险者的羊水染色体检测结果。方法通过羊膜腔穿刺术获取羊水细胞培养后进行染色体核型分析。结果 95例NIPT高风险对21三体的阳性预测值最高(85.00%),然后依次为18三体(75.00%),X数目异常(68.00%),其他染色体异常(41.67%),13三体(25.00%)。结论 NIPT对21三体的阳性预测值最高,是一种有效的且无创的产前筛查手段,目前羊水染色体检测仍然是诊断胎儿染色体疾病诊断的金标准。Objective To analysis of the detection result of amniotic fluid chromosome which in NIPT high-risk pregnant women.Methods Amniotic fluid cells via amniotic cavity puncture were cultured and analyzed,the chromosome karyotypes were observed.Results The highest positive predictive value of NIPT was for trisomy 21(85.00%),then trisomy 18(75.00%),sex chromosome abnormalities(68.00%),other chromosome abnormalities(41.67%),trisomy 13(25.00%).Conclusion The highest accuracy of NIPT was shown in detection of Down's syndrome by NIPT.NIPT was screening test which is effective and noninvasive in prenatal diagnosis.Amniotic fluid Chromosomal karyotype analysis was the gold standard in the diagnosis of fetal chromosomal disease.

关 键 词：产前诊断 羊水穿刺术 无创产前检测 

分 类 号：R714.5[医药卫生—妇产科学]