Digital PCR in prenatal diagnosis

Abstract

Digital PCR (dPCR) has demonstrated significant potential in non-invasive prenatal testing (NIPT) due to its high sensitivity and ability to provide absolute quantification of low-abundance targets. This review explores the broad applications of dPCR in NIPT, highlighting its advantages, particularly in identifying low-abundance fetal DNA and analyzing complex genetic variations. To further enhance its clinical utility, improvements are needed in detection sensitivity, multi-target analysis optimization, cost reduction, operational simplification, and standardization. This review also compares the working principles and features of various dPCR platforms, detailing their applications in prenatal diagnostics and their utility in detecting a wide range of targets and diseases in NIPT. Furthermore, it discusses the current research landscape of dPCR across various fields and its role in clinical trials, underscoring its significance in advancing research and clinical practice.

Keywords: Chromosome aneuploidy; Digital PCR; Monogenic diseases; NIPT; PGT.