Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data
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DOI：
10.1002/pd.347
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发表时间：
2002-07-01
影响因子：
3
通讯作者：
Wapner, RJ
中科院分区：
文献类型：
--
作者：
Bianchi, DW;Simpson, JL;Wapner, RJ
目的美国国家儿童健康与人类发育研究所胎儿细胞分离研究（NIFTY）是一项前瞻性、多中心的临床项目，旨在开发无创性产前诊断方法。最初的目的是评估孕妇外周血中的胎儿细胞诊断或筛查胎儿染色体abnormality.Methods的胎儿细胞间期核的荧光原位杂交（FISH）分析结果进行了比较，中期核型的胎儿细胞获得的胎盘穿刺术或绒毛膜绒毛取样（CVS）。在研究的前5年后，我们对数据进行了有计划的分析。我们在这里报告的数据，从2744完全处理的程序前的血液样本，1292个样本携带单胎男性fetals.Results的妇女靶细胞回收和胎儿细胞检测更好地使用基于磁的分离系统（MACS）比流式分选（FACS）。对来自携带单胎男性胎儿的妇女的样本进行盲法FISH评估，发现41.4%的病例中至少有一个细胞具有X和Y信号（95% CI：37.4%，45.5%）。性别检测的假阳性率为11.1%（95%CI：6.1，16.1%）。这高于预期，因为在一个中心使用了间接标记的FISH探针。胎儿非整倍体病例中至少发现一个非整倍体细胞的检出率为74.4%（95%置信度：76.0%，99.0%，），假阳性率在0.6%~ 4.1%之间。结论母血胎儿细胞分析法检测非整倍体的敏感性与单标记产前血清筛查法相当，但是在胎儿细胞分析作为用于非侵入性产前筛查的多标记方法的一部分具有临床应用之前，需要技术进步。目前研究的局限性，即多个处理方案，正在进行中的研究中得到解决。版权所有（C）2002约翰威利父子有限公司
Objectives The National Institute of Child Health and Human Development Fetal Cell Isolation Study (NIFTY) is a prospective, multicenter clinical project to develop non-invasive methods of prenatal diagnosis. The initial objective was to assess the utility of fetal cells in the peripheral blood of pregnant women to diagnose or screen for fetal chromosome abnormalities.Methods Results of fluorescence in situ hybridization (FISH) analysis on interphase nuclei of fetal cells recovered from maternal blood were compared to metaphase karyotypes of fetal cells obtained by amniocentesis or chorionic villus sampling (CVS). After the first 5 years of the study we performed a planned analysis of the data. We report here the data from 2744 fully processed pre-procedural blood samples; 1292 samples were from women carrying singleton male fetuses.Results Target cell recovery and fetal cell detection were better using magnetic-based separation systems (MACS) than with flow-sorting (FACS). Blinded FISH assessment of samples from women carrying singleton male fetuses found at least one cell with an X and Y signal in 41.4% of cases (95% Cl: 37.4%, 45.5%). The false-positive rate of gender detection was 11.1% (95% Cl: 6.1,16.1%). This was higher than expected due to the use of indirectly labeled FISH probes in one center. The detection rate of finding at least one aneuploid cell in cases of fetal aneuploidy was 74.4% (95% Cl: 76.0%, 99.0%,), with a false-positive rate estimated to be between 0.6% and 4.1%.Conclusions The sensitivity of aneuploidy detection using fetal cell analysis from maternal blood is comparable to single marker prenatal serum screening, but technological advances are needed before fetal cell analysis has clinical application as part of a multiple marker method for non-invasive prenatal screening. The limitations of the present study, i.e. multiple processing protocols, are being addressed in the ongoing study. Copyright (C) 2002 John Wiley Sons, Ltd.