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Article

Droplet Digital PCR for Non-Invasive Prenatal Detection of Fetal Single-Gene Point Mutations in Maternal Plasma.

International journal of molecular sciences - 4 Mar 2022

D'Aversa Elisabetta, Breveglieri Giulia, Boutou Effrossyni, Balassopoulou Angeliki, Voskaridou Ersi, Pellegatti Patrizia, Guerra Giovanni, Scapoli Chiara, Gambari Roberto, Borgatti Monica

Abstract excerpt

Non-invasive prenatal testing (NIPT) is based on the detection and characterization of circulating cell-free fetal DNA (ccffDNA) in maternal plasma and aims to identify genetic abnormalities. At present, commercial NIPT kits can detect only aneuploidies, small deletions and insertions and some paternally inherited single-gene point mutations causing genetic diseases, but not maternally inherited ones. In this...

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Identifiers

PMID: 35269962
DOI: 10.3390/ijms23052819
PMCID: PMC8911123

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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