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

Constantina G ConstantinouEleni KaritziStefania ByrouCoralea StephanouKyriaki MichailidouChristiana MakariouGeorgia HadjilambiAgathoklis ChristofidesMarina KleanthousThessalia Papasavva

Published in: Clinical chemistry (2022)

We have developed an efficient, simple, and cost-effective ddPCR assay for the non-invasive determination of fetal genotype in couples at risk of IVSI-110 G>A beta-thalassemia, bringing NIPD of monogenic diseases closer to the diagnostic setting.

Keyphrases

high throughput
sickle cell disease
single cell
solid phase extraction
high resolution
mass spectrometry
simultaneous determination