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

ConclusionsNoninvasive prenatal aneuploidy screening using fetal cells isolated from maternal blood is feasible and could substantially reduce the need for invasive procedures.

One hundred and seventy‐two pregnant women received prospective testing for fetal aneuploidy by applying our recently established dual‐probe FISH protocol to fetal cells isolated and enriched from maternal blood. Seven out of 172 samples showed a fetal aneuploidy which was confirmed by invasive prenatal diagnosis procedures. The frequency of trisomic cells (range 0.38–0.90%) for samples from aneuploid pregnancies was at least double that seen in samples from normal pregnancies (<0.18%).

Source: Molecular Genetics & Genomic Medicine - August 31, 2016 Category: Genetics & Stem Cells Authors: Giuseppe Calabrese, Donatella Fantasia, Melissa Alfonsi, Elisena Morizio, Claudio Celentano, Paolo Guanciali Franchi, Giulia Sabbatinelli, Chiara Palka, Peter Benn, Gianmaria Sitar Tags: Original Article Source Type: research