title: Clastogen-induced chromosomal breakage as a marker for first trimester prenatal diagnosis of Fanconi anemia.
abstract: 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.
authors.forename: A D
authors.initials: AD
authors.lastname: Auerbach
authors.forename: Z
authors.initials: Z
authors.lastname: Min
authors.forename: R
authors.initials: R
authors.lastname: Ghosh
authors.forename: E
authors.initials: E
authors.lastname: Pergament
authors.forename: Y
authors.initials: Y
authors.lastname: Verlinsky
authors.forename: H
authors.initials: H
authors.lastname: Nicolas
authors.forename: J
authors.initials: J
authors.lastname: Boué
mesh_terms: D000741:Anemia, Aplastic / Q000175:diagnosis*; D002478:Cells, Cultured; D002824:Chorionic Villi / Q000648:ultrastructure; D002869:Chromosome Aberrations / Q000187:drug effects*; D004852:Epoxy Compounds / Q000633:toxicity; D005199:Fanconi Anemia / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D009153:Mutagens; D011247:Pregnancy; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis / Q000379:methods*
chemical_list: D004852:Epoxy Compounds; D005819:Genetic Markers; D009153:Mutagens; C007366:diepoxybutane