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

Authors

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

Published in

Journal of clinical laboratory analysis. Pages e70298. Jul 05, 2026. Epub Jul 05, 2026.

Abstract

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.
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 mutations and 13 common β-thalassemia gene mutations. Validation was conducted using gap-PCR and PCR-RDB through invasive prenatal diagnosis. All prenatal diagnosis results were later confirmed for accuracy.
cfBEST successfully identified 94.6% (88/93) of fetal alleles, achieving a sensitivity of 94% (95% CI, 83.45%-98.75%) and a specificity of 95.35% (95% CI, 84.19%-99.43%). All prenatal diagnosis results were followed up, and the follow-up findings were consistent with the prenatal diagnosis results.
The findings indicate that cfBEST is a reliable, precise, simple, and cost-efficient method suitable for non-invasive prenatal testing of α-thalassemia and β-thalassemia.

PMID:
42402011
Bibliographic data and abstract were imported from PubMed on 05 Jul 2026.

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