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.
Keywords
Fanconi anemia - FANCC gene - Chromosome breakage - Next generation sequencing - Prenatal
diagnosis - Radial ray defect
