Noninvasive prenatal diagnosis of chromosomal aneuploidies by isolation and analysis of fetal cells from maternal blood |
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Authors: | Ernesto Falcidia Agata Grillo Piero Pavone Nunzio Cutuli Haruo Takabayashi Rosario R. Trifiletti Conrad T. Gilliam |
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Affiliation: | 1. Fertilia, Human Reproduction Medicine Unit, Catania, Italy;2. Labogen, Human Genetic Laboratory, Catania, Italy;3. Division of Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy;4. Human Genetic Laboratory, Department of Pediatrics, University of Catania, Catania, Italy;5. Division of Human Genetics, Medical Research Institute, Kanazawa Medical University, Ishikawa, Japan;6. Department of Neurology and Neuroscience, Cornell University Medical Center, New York, New York;7. Columbia Genome Center, Columbia University, New York, New York |
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Abstract: | 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 <72 hrs, produced complete concordance with the results of amniocentesis. We also confirm findings of prior studies suggesting that the number of FNRBCs in maternal circulation is remarkably higher in abnormal pregnancies than in normal pregnancies, especially in women carrying a fetus with trisomy 21. © 2001 Wiley‐Liss, Inc. |
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Keywords: | fetal cells fetal hemoglobin staining fluorescence in situ hybridization FISH micromanipulation aneuploidies Down syndrome prenatal diagnosis |
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