title: Six consecutive false positive cases from cell-free fetal DNA testing in a single referring centre.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Nella
authors.initials: N
authors.lastname: Dugo
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Francesco
authors.initials: F
authors.lastname: Padula
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Luisa
authors.initials: L
authors.lastname: Mobili
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Cristiana
authors.initials: C
authors.lastname: Brizzi
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Laura
authors.initials: L
authors.lastname: D'Emidio
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Pietro
authors.initials: P
authors.lastname: Cignini
authors.affiliation: Department of Genetics, Altamedica-Artemisia SpA, Rome.
authors.forename: Alvaro
authors.initials: A
authors.lastname: Mesoraca
authors.affiliation: Department of Genetics, Altamedica-Artemisia SpA, Rome.
authors.forename: Domenico
authors.initials: D
authors.lastname: Bizzoco
authors.affiliation: Department of Genetics, Altamedica-Artemisia SpA, Rome.
authors.forename: Antonella
authors.initials: A
authors.lastname: Cima
authors.affiliation: Department of Fetal Maternal Medicine, Altamedi-ca-Artemisia SpA, Rome.
authors.forename: Claudio
authors.initials: C
authors.lastname: Giorlandino
keywords: NIPT; amniocentesis; aneuploidy; cell-free fetal DNA; chorionic villus sampling