Comparison of microarray‐based detection rates for cytogenetic abnormalities in prenatal and neonatal specimens

Abstract

The chance of detecting a chromosome abnormality in a prenatal population that has already been screened by routine cytogenetics is approximately 1.3%. However, given that many of the abnormal array results in the neonatal population were among those with dysmorphic features as the primary indication for testing, which are not easily identifiable by ultrasound, offering prenatal testing by aCGH to a wider population would likely result in a higher detection rate.