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Article

Application of Cell-Free DNA Barcode-Enabled Single-Molecule Test for Non-Invasive Prenatal Testing of α-Thalassemia and β-Thalassemia.

Journal of clinical laboratory analysis - 1 Aug 2026

Liu Qin, Ma Na, Tang Wanglan, Chen Qianting, Tang Deguo, Zeng Chunyan, Wang Xiaofeng, Xi Hui

Abstract excerpt

PURPOSE: To assess the feasibility of using the cell-free DNA barcode-enabled single-molecule test (cfBEST) for non-invasive prenatal testing (NIPT) of α-thalassemia and β-thalassemia. METHODS: Seventy two thalassemia carrier families participated in the study. The cfBEST method was employed to identify thalassemia genotypes in fetal cell-free DNA extracted from maternal plasma, targeting four α-thalassemia gene...

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Topics

Humans
alpha-Thalassemia
beta-Thalassemia
Female
Pregnancy
Cell-Free Nucleic Acids

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Prenatal Diagnosis

Noninvasive Prenatal Testing

Mutation

Adult

Sensitivity and Specificity

Source

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Identifiers

PMID: 42402011
DOI: 10.1002/jcla.70298
PMCID: PMC13399750

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