Noninvasive prenatal diagnosis of beta-thalassemia disease by using digital PCR analysis of cell-free fetal DNA in maternal plasma

P Charoenkwan, K Traisrisilp, S Sirichotiyakul… - Fetal Diagnosis and …, 2023 - karger.com
Introduction: Prenatal diagnosis of thalassemia disease was usually based on invasive
technique. Noninvasive diagnosis using cell-free fetal DNA (cff-DNA) was described with …

Postnatal and non-invasive prenatal detection of β-thalassemia mutations based on Taqman genoty** assays

G Breveglieri, A Travan, E D'Aversa, LC Cosenza… - PLoS …, 2017 - journals.plos.org
The β-thalassemias are genetic disorder caused by more than 200 mutations in the β-globin
gene, resulting in a total (β0) or partial (β+) deficit of the globin chain synthesis. The most …