title: Aneuploidy screening using circulating fetal cells in maternal blood by dual-probe FISH protocol: a prospective feasibility study on a series of 172 pregnant women.
abstract: BACKGROUND
  A long sought goal in medical genetics has been the replacement of invasive procedures for the detection of chromosomal aneuploidies by isolating and analyzing fetal cells or free fetal DNA from maternal blood, avoiding risk to the fetus. However, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice has not yet been achieved. The purpose of this study was to assess the feasibility of predicting fetal aneuploidy by applying our recently established dual-probe FISH protocol to fetal cells isolated and enriched from maternal blood.
  
  
  METHODS
  A total of 172 pregnant women underwent prospective testing for fetal aneuploidy by FISH analysis of fetal cells isolated from maternal blood. Results were compared with the karyotype determined through invasive procedures or at birth.
  
  
  RESULTS
  Seven of the samples exhibited fetal aneuploidy, which was confirmed by invasive prenatal diagnosis procedures. After enrichment for fetal cells, the frequency of trisomic cells was at least double in samples from aneuploid pregnancies (range 0.38-0.90%) compared to samples from normal pregnancies (≤0.18%). One false negative result was also obtained.
  
  
  CONCLUSIONS
  Noninvasive prenatal aneuploidy screening using fetal cells isolated from maternal blood is feasible and could substantially reduce the need for invasive procedures.
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Calabrese
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Donatella
authors.initials: D
authors.lastname: Fantasia
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Melissa
authors.initials: M
authors.lastname: Alfonsi
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Elisena
authors.initials: E
authors.lastname: Morizio
authors.affiliation: Clinica Ostetrica e Ginecologica ASL Chieti Chieti Italy.
authors.forename: Claudio
authors.initials: C
authors.lastname: Celentano
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Guanciali Franchi
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Giulia
authors.initials: G
authors.lastname: Sabbatinelli
authors.affiliation: Genetica Medica Università Chieti-Pescara Chieti Scalo Italy.
authors.forename: Chiara
authors.initials: C
authors.lastname: Palka
authors.affiliation: University of Connecticut Health Center Farmington Connecticut.
authors.forename: Peter
authors.initials: P
authors.lastname: Benn
authors.affiliation: Policlinico S. Matteo Pavia Italy.
authors.forename: Gianmaria
authors.initials: G
authors.lastname: Sitar
keywords: Aneuploidy; FISH; NIPT; circulating fetal cells; genetic counseling