Non‐invasive prenatal diagnostic testing for β‐thalassaemia using cell‐free fetal DNA and next generation sequencing

Abstract

We demonstrated that detection of paternal mutations using NGS can be readily achieved with high sensitivity and specificity, removing the need for an invasive test in 50% of pregnancies at risk of a thalassaemia in cases where the father and mother carry a different mutation. © 2014 John Wiley & Sons, Ltd.