Non-invasive prenatal diagnosis of beta-thalassemia disease using digital PCR

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Source: Frontiers Medicine

Original: https://www.frontiersin.org/articles/10.3389/fmed.2026.1771405...

Published: 2026-03-30T00:00:00Z

The study evaluated the accuracy of digital PCR (dPCR) as a non-invasive method for prenatal diagnosis (NIPT) of beta-thalassemia. The research focused on 63 pregnant women at risk of transmitting beta-thalassemia to the fetus. Maternal plasma was analyzed by dPCR to detect paternally and maternally inherited mutations. dPCR results were compared with invasive prenatal diagnostics, which served as the gold standard. Determined cutoff values โ€‹โ€‹of the ratio of mutant to normal allele (M/N) predicted fetal involvement with high sensitivity and specificity. dPCR-based NIPT accurately identified fetuses at risk of beta-thalassemia major. The study suggests that dPCR may reduce the need for invasive prenatal tests. A limitation of the study is the relatively small sample size.