Validation of Extensive Next-Generation Sequencing Method for Monogenic Disorder Analysis on Cell Free Fetal DNA: Noninvasive Prenatal Diagnosis

We present a method for the analysis of an extended group of gene variants associated with recessive and dominant autosomal disorders using next-generation sequencing. The proposed test should allow a complete analysis of common genetic disorders and pathogen-associated variants for diagnostic use. The analysis of cffDNA for single gene disorders may replace invasive prenatal diagnosis methods, associated with the risk of spontaneous abortion and psychological stress for patients. The proposed test should assess reproductive risk both for genetic family disorders and de novo occurrences of the disease. The application of this method to a case of beta thalassemia is also discussed.
Source: The Journal of Molecular Diagnostics - Category: Pathology Source Type: research