334: Identification of 22q11 microdeletions by noninvasive prenatal testing (NIPT) – the clinical experience

Abstract

NIPT for fetal aneuploidies has become routine practice in pregnancy management. It’s accuracy and no associated risk for pregnancy loss has resulted in widespread adoption of the test. A whole genome approach enables detecting subchromosomal events. A novel algorithm using low coverage sequencing data to identify fetal microdeletion events with data output akin to microarray has been developed by Sequenom Laboratories.