Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Abstract

Genome-wide linkage analysis is an established tool to map inherited diseases. To our knowledge it has not been used in prenatal diagnostics of any genetic disorder. We present a family with a severe recessive mental retardation syndrome, where the mother wished pregnancy termination to avoid delivering another affected child. By genome-wide scanning using the Affymetrix (Santa Clara, CA, USA) 10k chip we were able to establish the disease haplotype. Without knowing the exact genetic defect, we excluded the condition in the fetus. The woman finally gave birth to a healthy baby. We suggest that genome-wide linkage analysis-based on either SNP mapping or full-genome sequencing-is a very useful tool in prenatal diagnostics of diseases. © 2013 Macmillan Publishers Limited All rights reserved.