Clinical Validation and Diagnostic Utility of Optical Genome Mapping in Prenatal Diagnostic Testing

The standard-of-care (SOC) diagnostic prenatal testing includes a combination of cytogenetic methods such as karyotyping, fluorescence in situ hybridization (FISH), and chromosomal microarray (CMA) using either direct or cultured amniocytes or chorionic villi sampling (CVS). However, each technology has its limitations: karyotyping has a low resolution (>5Mb), FISH is targeted, and CMA does not detect balanced structural variants (SVs). These limitations necessitate the use of multiple tests, either simultaneously or sequentially to reach a genetic diagnosis.

Source: Journal of Molecular Diagnostics - February 7, 2023 Category: Pathology Authors: Nikhil Shri Sahajpal, Ashis K. Mondal, Timothy Fee, Benjamin Hilton, Lawrence Layman, Alex R. Hastie, Alka Chaubey, Barbara R. DuPont, Ravindra Kolhe Tags: Regular Article Source Type: research