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Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia |
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| Authors: | Arleen D. Auerbach Zhang Min Rita Ghosh Eugene Pergament Yuri Verlinsky Henriette Nicolas Joëlle Boué |
| Affiliation: | (1) Laboratory for Investigative Dermatology, The Rockefeller University, 1230 York Avenue, 10021 New York, NY, USA;(2) Division of Medical Genetics, Michael Reese Hospital and Medical Center, Chicago, Illinois, USA;(3) Unité de Recherches de Biologie Prénatale, INSERM U. 73, Paris, France |
| Abstract: | Summary Using cultured trophoblast cells obtained by chorionic villus biopsy, we diagnosed Fanconi anemia (FA) in two pregnancies and excluded it in eight pregnancies at risk for the syndrome. Baseline chromosomal breakage and breakage induced by diepoxybutane (DEB) were analyzed. Increased breakage was used as a marker for the syndrome. Our results were unambiguous and provide a reliable method for prenatal detection of FA in the first trimester of pregnancy. |
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