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

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,...

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Bibliographische Detailangaben
Veröffentlicht in:Journal of prenatal medicine. - 2007. - 8(2014), 1-2 vom: 18. Jan., Seite 31-5
1. Verfasser: Dugo, Nella (VerfasserIn)
Weitere Verfasser: Padula, Francesco, Mobili, Luisa, Brizzi, Cristiana, D'Emidio, Laura, Cignini, Pietro, Mesoraca, Alvaro, Bizzoco, Domenico, Cima, Antonella, Giorlandino, Claudio
Format: Aufsatz
Sprache:English
Veröffentlicht: 2014
Zugriff auf das übergeordnete Werk:Journal of prenatal medicine
Schlagworte:Case Reports NIPT amniocentesis aneuploidy cell-free fetal DNA chorionic villus sampling
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500 |a Date Revised 21.10.2021 
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520 |a 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 
520 |a 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 
520 |a RESULTS: using classic cytogenetic analysis and, also, Array - Comparative Genomic Hybridization (Array CGH) the karyotype of all 5 fetuses was found to be normal 
520 |a 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 
650 4 |a Case Reports 
650 4 |a NIPT 
650 4 |a amniocentesis 
650 4 |a aneuploidy 
650 4 |a cell-free fetal DNA 
650 4 |a chorionic villus sampling 
700 1 |a Padula, Francesco  |e verfasserin  |4 aut 
700 1 |a Mobili, Luisa  |e verfasserin  |4 aut 
700 1 |a Brizzi, Cristiana  |e verfasserin  |4 aut 
700 1 |a D'Emidio, Laura  |e verfasserin  |4 aut 
700 1 |a Cignini, Pietro  |e verfasserin  |4 aut 
700 1 |a Mesoraca, Alvaro  |e verfasserin  |4 aut 
700 1 |a Bizzoco, Domenico  |e verfasserin  |4 aut 
700 1 |a Cima, Antonella  |e verfasserin  |4 aut 
700 1 |a Giorlandino, Claudio  |e verfasserin  |4 aut 
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