Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.

ABSTRACT:

Background

Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data. The interpretation of the test results and the clinical report writing, however, remains the responsibility of the diagnostic laboratory. In order to facilitate this step, we developed NIPTviewer, a web-based application to visualize and guide the interpretation of NIPT data results.

Resul

SUBMITTER: Smeds P 

PROVIDER: S-EPMC11748546 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature