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Prenatal diagnosis of Fanconi anemia |
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| Authors: | R Voss G Kohn M Shaham Z BENZUR J Arnon A Ornoy H Yaffe M Golbus A D Auerbach |
| Institution: | Departments of Human Genetics, New York;Departments of Laboratory of Teratology, Department of Anatomy &Embryology;Departments of Obstetrics and Gynecology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel;Departments of Laboratory of Cancer Genetics and Cytogenetics, Memorial Sloan-Kettering Cancer Center, New York |
| Abstract: | Prenatal diagnosis was performed on a fetus at risk for Fanconi anemia. A high spontaneous (0.30 breaks/cell) and diepoxybutane-induced (0.69 breaks/cell) chromosome breakage rate indicated an affected fetus and the pregnancy was terminated. The anatomic findings in the aborted fetus together with cytogenetic findings in cultured fetal skin fibroblasts confirmed the prenatal diagnosis. |
| Keywords: | Chromosome breakage diepoxybutane Fanconi anemia prenatal diagnosis |