Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings |
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| Authors: | Amy Merrill Lynne Rosenblum-Vos Deborah A Driscoll Katherine Daley Karen Treat |
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| Institution: | 1. Genzyme Genetics, Molecular Diagnostics Laboratory, Westborough, Massachusetts, Division of Genzyme Corporation, Cambridge, MA, USA;2. Department of Obstetrics and Gynecology, University of Pennsylvania Medical Center, Philadelphia, PA, USA;3. Division of Medical Genetics, Beth Israel Medical Center, New York, NY, USA |
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| Abstract: | Manifestations of Fanconi Anemia Complementation Group C (FA-C) include multiple major congenital malformations, hypoplastic radius, absent thumb, growth retardation, elfin-like facial features, microphthalmia, microcephaly, café-au-lait spots, early onset of hematologic disease and poor survival (Auerbach, 1997). We describe two cases in which second-trimester sonographic findings led to parental carrier testing for FA-C and subsequent prenatal diagnosis of affected fetuses. Copyright © 2005 John Wiley & Sons, Ltd. |
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| Keywords: | Fanconi anemia (Group C) radial aplasia ventriculomegaly ultrasound |
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