Publication

Abstract : Fanconi anemia (FA) is a rare genetic disorder with multisystem involvement. Confirmatory genetic testing is possible by diagnostic clues on examination of the proband within the differential diagnosis. We describe a fetus with radial ray defect in a primigravida. Cytogenetic testing for breakages confirmed Fanconi anemia as the etiology. Molecular testing by next generation sequencing did not reveal a point change in any of the twenty-one genes known to be associated with FA. A confirmed fetal autopsy phenotype and the cytogenetic report allowed for the identification of a homozygous deletion of exon 4–6 in the FANCC gene on re-analysis of the molecular dataset. This case exemplifies the utility of a step wise approach to the diagnosis of prenatally diagnosed radial ray defects and the importance of genetic counseling and prenatal testing.