Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).

Abstract

This article reviews the current applications of the digital polymerase chain reaction (dPCR) in non-invasive prenatal testing (NIPT) and explores its potential to complement or surpass the capabilities of Next-Generation Sequencing (NGS) in prenatal testing. The growing incidence of genetic disorders in maternal-fetal medicine has intensified the demand for precise and accessible NIPT options, which aim to minimize the need for invasive prenatal diagnostic procedures. Cell-free fetal DNA (cffDNA), the core analyte in NIPT, is influenced by numerous factors such as maternal DNA contamination, placental health, and fragment degradation. dPCR, with its inherent precision and ability to detect low-abundance targets, demonstrates robustness against these interferences. Although NGS remains the gold standard due to its comprehensive diagnostic capabilities, its high costs limit widespread use, particularly in resource-limited settings. In contrast, dPCR provides comparable accuracy with lower complexity and expense, making it a promising alternative for prenatal testing.