Fetal gender and aneuploidy detection using fetal cells in maternal blood: analysis of NIFTY I data

Abstract

The sensitivity of aneuploidy detection using fetal cell analysis from maternal blood is comparable to single marker prenatal serum screening, but technological advances are needed before fetal cell analysis has clinical application as part of a multiple marker method for non-invasive prenatal screening. The limitations of the present study, i.e. multiple processing protocols, are being addressed in the ongoing study.

Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma

“…For the direct detection of fetal chromosomal and genetic abnormalities from maternal blood, early work focused on the relatively difficult isolation of the rare fetal nucleated cells from maternal blood (3)(4)(5). The discovery of cell-free fetal nucleic acids in maternal plasma in 1997 opened up new possibilities (6,7).…”

Reproducing Genetics

“…This project generated many insights and achieved a trisomy 21 detection rate of 74%. 13 Only later did cell-free fetal DNA become the best single marker for prenatal aneuploidy.…”

Flow cytometric methods for prenatal and neonatal diagnosis

“…The Fetal Cell Isolation Study (NIFTY) in 2002 was a 5 year prospective clinical evaluation of pregnant women at risk for fetal abnormalities carried out by the National Institute of Child Health and Human Development (Bianchi et al, 2002). The purpose of the study was to compare the success rates of detecting fetal gender and fetal aneuploidy using fluorescence in situ hybridization (FISH) analysis on interphase nuclei of fetal cells in the maternal circulation to metaphase karyotypes of fetal cells obtained from amniocentesis or chorionic villus sampling.…”