ISPD 2015

BACKGROUND Prenatal diagnosis of chromosome abnormalities through the analysis of amniocytes or chorionic villus samples (CVS) is an accepted part of prenatal care. Chromosome numerical changes (aneuploidy, polyploidy), large deletions and duplications, and rearrangements can be detected through conventional chromosome analysis (karyotyping) and smaller copy number variations can be detected using microarrays.1 Use of chromosome microarrays can be particularly informative when there is ultrasonographic evidence of fetal anatomic abnormalies…