Dugo, Nella and Padula, Francesco and Mobili, Luisa and Brizzi, Cristiana and D’Emidio, Laura and Cignini, Pietro and Mesoraca, Alvaro and Bizzoco, Domenico and Cima, Antonella and Giorlandino, Claudio (2014) Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre. Journal of prenatal medicine, 8 (1-2). pp. 31-35. ISSN 1971-3290
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Abstract
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.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | cell-free fetal DNA, NIPT, chorionic villus sampling, amniocentesis, aneuploidy |
| Subjects: | 500 Scienze naturali e Matematica > 570 Scienze della vita; Biologia |
| Depositing User: | Marina Spanti |
| Date Deposited: | 25 Jan 2016 17:29 |
| Last Modified: | 25 Jan 2016 17:29 |
| URI: | http://eprints.bice.rm.cnr.it/id/eprint/10344 |
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