Prenatal Diagnosis Using Chromosomal SNP Microarrays

Abstract

Chromosomal microarray is a high resolution genomic technology to diagnose genetic conditions associated with losses or gains of the human genome. This technology is currently routinely used in numerous clinical settings, including postnatal diagnosis of disorders with genetic etiologies such as intellectual disability, developmental delay, neurocognitive phenotypes, congenital anomalies, and prenatal diagnosis wherein the referral could be ultrasound anomalies, advanced maternal age, and normal course of pregnancy. We describe the use of Chromosomal SNP microarrays for prenatal diagnosis of genetic disorders which result from both copy number or copy neutral changes in the genome.

Keywords: Chromosomal SNP microarray; Chromosomal microarray analysis; Prenatal diagnosis; Ultrasound abnormalities.