来自单一转诊中心的六例连续无细胞胎儿DNA检测假阳性病例。
Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre.
作者信息
Dugo Nella, Padula Francesco, Mobili Luisa, Brizzi Cristiana, D'Emidio Laura, Cignini Pietro, Mesoraca Alvaro, Bizzoco Domenico, Cima Antonella, Giorlandino Claudio
机构信息
Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
Department of Genetics, Altamedica-Artemisia SpA, Rome.
出版信息
J Prenat Med. 2014 Jan-Mar;8(1-2):31-5.
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.
引言
最近的研究提议将游离胎儿DNA检测（无创产前检测，NIPT）引入常规临床实践，强调其高敏感性和特异性。无论如何，由于游离胎儿DNA主要来源于胎盘，胎盘嵌合可能导致假阳性和假阴性结果。
病例
我们报告了6例接受绒毛取样（CVS）或羊膜穿刺术以确认无创产前检测结果的女性病例：2例特纳综合征、2例XXX综合征、1例帕陶综合征、1例爱德华综合征。
结果
使用经典细胞遗传学分析以及阵列比较基因组杂交（Array CGH），发现所有5例胎儿的核型均正常。
结论
无创产前检测的结果必须始终通过侵入性产前诊断来确认。必须告知患者，绒毛取样和羊膜穿刺术仍然是现有的唯一产前诊断检测形式。
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