Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre.

Journal of prenatal medicine Pub Date : 2014-01-01

Nella Dugo, Francesco Padula, Luisa Mobili, Cristiana Brizzi, Laura D'Emidio, Pietro Cignini, Alvaro Mesoraca, Domenico Bizzoco, Antonella Cima, Claudio Giorlandino

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Abstract

Introduction: recent studies have proposed the introduction of cell-free fetal DNA testing (NIPT-Non Invasive Prenatal Testing) in routine clinical practice emphasizing its high sensibility and specificity. In any case, false positive and false negative findings may result from placental mosaicism, because cell-free fetal DNA originates mainly from placenta.

Case: WE REPORT SIX CASES OF WOMEN WHO UNDERWENT CHORIONIC VILLUS SAMPLING (CVS) OR AMNIOCENTESIS TO CONFIRM THE RESULTS FROM NIPT: two Turner syndromes, two Triple X, one Patau syndrome, one Edward syndrome.

Results: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization (Array CGH) the karyotype of all 5 fetuses was found to be normal.

Conclusion: results from NIPT must always be confirmed by invasive prenatal diagnosis. It is mandatory to inform the patient that the CVS and amniocentesis still represent the only form of prenatal diagnostic test available.

本刊更多论文

在一个转诊中心连续6例无细胞胎儿DNA检测假阳性病例。

简介:近年来的研究已经提出将无细胞胎儿DNA检测(npt - non - Invasive Prenatal testing)引入常规临床实践，强调其高敏感性和特异性。在任何情况下，假阳性和假阴性结果都可能是由胎盘嵌合引起的，因为无细胞的胎儿DNA主要来自胎盘。病例:我们报告了6例接受绒毛膜绒毛取样(CVS)或羊膜穿刺术以证实NIPT结果的妇女:2例Turner综合征，2例Triple X综合征，1例Patau综合征，1例Edward综合征。结果:经经典细胞遗传学分析和阵列比较基因组杂交(Array - Comparative Genomic Hybridization, CGH)分析，5例胎儿的核型均为正常。结论:NIPT结果必须通过有创产前诊断来证实。必须告知患者，CVS和羊膜穿刺术仍然是产前诊断测试的唯一形式。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Journal of prenatal medicine

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