Prenatal Cytogenetic Diagnosis Using Comparative Genomic Hybridization Microarray

This is a competing renewal to continue our investigations of the use of molecular cytogenetic testing by array copy number analysis in prenatal diagnostic testing. We have completed a prospective blinded comparison of copy number analysis (aCNA) with standard conventional karyotyping in 4400 unselected prenatal diagnostic tests. Our work demonstrates that aCNA identifies all pathologic findings seen by karyotyping and provides significant incremental information in 2% of all patients tested.

Managing Incidental Findings in the Genomic Era

Disclosing the prospect or discovery of genomic IFs to clinical patients or prospective research subjects is an area fraught with ethical, legal, social, and practical challenges. These challenges are being magnified with the advent of Genome Wide Association Studies (GWAS) and Chromosomal Microarray Analysis (CMA). The potential for identifying IFs and how this potential should be addressed for GWAS, CMA, and other genomic research and clinical applications is a novel prospect with which researchers, clinicians, research subjects, patients, and policy makers have limited experience.

The impact of uncertainty in genome-wide testing for Autism Spectrum Disorder

Chromosomal Microarray Analysis (CMA) is a genome-wide technology that allows for identification of genomic alterations, such as deletions and duplications, at an unprecedented resolution. However, many genetic variations are identified that have unknown or uncertain clinical significance. New clinical guidelines recommend CMA testing for children with Autism Spectrum Disorder (ASD). ASD is one of the most common serious developmental disorders, found in almost 1% of children in the United States.

Goals and Practices for Next Generation Prenatal Testing

Prenatal testing is evolving in two important ways: first, advances in genomic medicine mean that samples of fetal DNA obtained with invasive methods (such as amniocentesis) can be analyzed using microarray analysis or whole genome sequencing, revealing far more information about the fetus's genetic make-up than was previously possible; and second, new, non-invasive prenatal tests have been introduced that isolate fragments of fetal DNA circulating in a pregnant woman's blood, making possible safe, highly accurate genetic testing much earlier in pregnancy than was previously possi