Efficacy of array comparative genomic hybridization in a fetus with an inherited apparently balanced translocation: A case report

Abstract

When one parent is discovered to have the same apparently balanced genetic rearrangement as that identified at prenatal diagnosis, many couples are advised to seek a more precise prenatal diagnosis for reassurance. A 25-year-old translocation carrier, who carried a fetus with partial trisomy 3q and partial monosomy 9p with omphalocele in a previous pregnancy, showed the same apparently balanced translocation at chorionic villus sampling. A truly balanced translocation without cryptic imbalances for the fetus was detected using array comparative genomic hybridization. For cryptic unbalanced defects, in which an apparently balanced translocation has been transmitted from a normal parent to a child with a phenotypic abnormality, the use of array comparative genomic hybridization to assess the presence of cryptic aberrations in the fetus combines the speed of DNA analysis with a comprehensive scan for submicroscopic genomic abnormalities.