Abstract
BackgroundA 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.MethodsA 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.ResultsSeven 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.ConclusionsNoninvasive prenatal aneuploidy screening using fetal cells isolated from maternal blood is feasible and could substantially reduce the need for invasive procedures.
Highlights
Prenatal genetic diagnosis currently relies on the examination of fetal cells obtained through invasive procedures, such as amniocentesis and chorionic villous sampling
A total of 172 pregnant women underwent prospective testing for fetal aneuploidy by fluorescence in situ hybridization (FISH) analysis of fetal cells isolated from maternal blood
Noninvasive prenatal aneuploidy screening using fetal cells isolated from maternal blood is feasible and could substantially reduce the need for invasive procedures
Summary
Prenatal genetic diagnosis currently relies on the examination of fetal cells obtained through invasive procedures, such as amniocentesis and chorionic villous sampling. A long sought goal in medical genetics has been the replacement of invasive procedures by testing isolated fetal cells or free fetal DNA from maternal blood. Substantial progress has been made in the development of tests based on the presence of cell-free fetal DNA in maternal plasma, a rapid, simple, consistent, and low-cost procedure suitable for routine clinical practice for all women has not yet been achieved 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. 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
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