Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood

The isolation and analysis of nucleated fetal cells (NFCs) from maternal blood may represent a new approach to noninvasive prenatal diagnosis. Although promising, these techniques require highly accurate separation of NFCs from nucleated cells of maternal origin; the two major problems limiting thes...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics 2001-07, Vol.101 (3), p.262-267
Main Authors: Parano, Enrico, Falcidia, Ernesto, Grillo, Agata, Pavone, Piero, Cutuli, Nunzio, Takabayashi, Haruo, Trifiletti, Rosario R., Gilliam, Conrad T.
Format: Article
Language:English
Subjects:
aneuploidies
Aneuploidy
Biological and medical sciences
Chromosome aberrations
Down syndrome
Erythrocytes - chemistry
Erythrocytes - metabolism
Female
fetal cells
Fetal Hemoglobin - analysis
fetal hemoglobin staining
Fetus - cytology
Fetus - metabolism
FISH
fluorescence in situ hybridization
Humans
In Situ Hybridization, Fluorescence
Medical genetics
Medical sciences
micromanipulation
Pregnancy - blood
prenatal diagnosis
Prenatal Diagnosis - methods
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:The isolation and analysis of nucleated fetal cells (NFCs) from maternal blood may represent a new approach to noninvasive prenatal diagnosis. Although promising, these techniques require highly accurate separation of NFCs from nucleated cells of maternal origin; the two major problems limiting these techniques are the relative rarity of fetal cells in maternal blood and the need to establish their fetal origin. We now report a novel procedure that has allowed accurate separation of NFCs from maternal cells. The technique reported involves direct micromanipulator isolation of histochemically identified hemoglobin F‐positive nucleated cells to obtain fetal nucleated red blood cells (FNRBCs) of high yield and purity. Using this technique, followed by cell‐by‐cell multicolor fluorescence in situ hybridization (FISH) analysis of purified FNRBCs, we were able to detect some of the most common human aneuploidies (including Down syndrome, Klinefelter syndrome, and trisomy 13) in 33 pregnant women referred for amniocentesis. The procedure used, which can be completed in
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1350