Digital PCR in noninvasive prenatal testing: Analytical principles, clinical utilities, and future integration

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216305%3A26220%2F26%3A0201735" target="_blank" >RIV/00216305:26220/26:0201735 - isvavai.cz</a>

Result on the web

<a href="https://www.sciencedirect.com/science/article/pii/S0165993626000506" target="_blank" >https://www.sciencedirect.com/science/article/pii/S0165993626000506</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1016/j.trac.2026.118695" target="_blank" >10.1016/j.trac.2026.118695</a>

Result language

angličtina

Original language name

Digital PCR in noninvasive prenatal testing: Analytical principles, clinical utilities, and future integration

Original language description

Digital PCR (dPCR) enables absolute nucleic acid quantification through partition-based amplification and has emerged as a robust analytical platform for non-invasive prenatal testing (NIPT). Direct molecular counting, independent of calibration curves and amplification efficiency, enables precise detection of chromosomal aneuploidies, rare paternal or de novo variants, and microdeletions at very low fetal DNA fractions where sequencing-based screening loses statistical power. High partition numbers, strong reproducibility, and minimal computational requirements distinguish dPCR from qPCR and next-generation sequencing (NGS), positioning it as a reliable confirmatory method for sequencing-derived findings. Analytical advances, including improved extraction efficiency, enhanced partition stability, expanded multiplexing strategies, and duplex ratio assays, further improve performance in complex plasma samples. Hybrid workflows integrating NGS-based genomewide discovery with dPCR-based quantitative validation reduce false positives and enhance diagnostic confidence. Digital PCR thus complements sequencing and supports a precise and scalable framework for nextgeneration prenatal diagnostics.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

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OECD FORD branch

10406 - Analytical chemistry

Project

—

Continuities

S - Specificky vyzkum na vysokych skolach

Publication year

2026

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

TRAC-TRENDS IN ANALYTICAL CHEMISTRY

ISSN

0165-9936

e-ISSN

1879-3142

Volume of the periodical

197

Issue of the periodical within the volume

4

Country of publishing house

GB - UNITED KINGDOM

Number of pages

14

Pages from-to

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UT code for WoS article

001680270800001

EID of the result in the Scopus database

2-s2.0-105029042420