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Prenatal diagnosis of Fanconi anemia (Group C) subsequent to abnormal sonographic findings

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.