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

Kód výsledku v 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>

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10406 - Analytical chemistry

Projekt

—

Návaznosti

S - Specificky vyzkum na vysokych skolach

Rok uplatnění

2026

Kód důvěrnosti údajů

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

Název periodika

TRAC-TRENDS IN ANALYTICAL CHEMISTRY

ISSN

0165-9936

e-ISSN

1879-3142

Svazek periodika

197

Číslo periodika v rámci svazku

4

Stát vydavatele periodika

GB - Spojené království Velké Británie a Severního Irska

Počet stran výsledku

14

Strana od-do

—

Kód UT WoS článku

001680270800001

EID výsledku v databázi Scopus

2-s2.0-105029042420