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Optimized Droplet Digital PCR Assay on Cell-Free DNA Samples for Non-Invasive Prenatal Diagnosis: Application to Beta-Thalassemia.

Clinical chemistry - 27 Jul 2022

Constantinou Constantina G, Karitzi Eleni, Byrou Stefania, Stephanou Coralea, Michailidou Kyriaki, Makariou Christiana, Hadjilambi Georgia, Christofides Agathoklis, Kleanthous Marina, Papasavva Thessalia

Abstract excerpt

BACKGROUND: Thalassemias are inherited blood disorders and by far one of the most common monogenic diseases globally. Beta-thalassemia has a particularly high prevalence in Cyprus, with the IVSI-110 G>A (HBB:c.93-21G>A) pathogenic variation representing almost 79% of the total carriers. The discovery that 3% to 20% of cell-free fetal DNA (cffDNA) is present in the maternal plasma allowed the development of...

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PMID: 35652459
DOI: 10.1093/clinchem/hvac076

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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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