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Article

Fetal Genotyping in Maternal Blood by Digital PCR: Towards NIPD of Monogenic Disorders Independently of Parental Origin.

PloS one - 1 Jan 2016

Perlado Sara, Bustamante-Aragonés Ana, Donas Marta, Lorda-Sánchez Isabel, Plaza Javier, Rodríguez de Alba Marta

Abstract excerpt

PURPOSE: To date, non-invasive prenatal diagnosis (NIPD) of monogenic disorders has been limited to cases with a paternal origin. This work shows a validation study of the Droplet Digital PCR (ddPCR) technology for analysis of both paternally and maternally inherited fetal alleles. For the purpose, single nucleotide polymorphisms (SNPs) were studied with the only intention to mimic monogenic disorders. METHODS:...

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Share to Genetic Diseases, Inborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 27078875
DOI: 10.1371/journal.pone.0153258
PMCID: PMC4831728

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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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