Six-year experience of prenatal diagnosis for beta thalassemia in twin pregnancies and selective foetal reduction - A case series

Keywords: Chorionic Villi, Prenatal diagnosis, Genetic Counseling, Beta-Thalassemia, Selective Foetal Termination Introduction Beta thalassemia is an autosomal, inherited haemoglobin disorder with 1.5% prevalence rate worldwide.1 It is the most common inherited disorder in Pakistan with a carrier rate of 5.0% and about 6,000 Beta Thalassemia major(BTM) children born per year.2 Chorionic Villi Sampling(CVS) has been the widely accepted technique for beta thalassemia genetic testing with the advantage to diagnose the affected foetus in the first trimester of pregnancy.3 Sometimes at-risk couples present with twin pregnancies and prenatal diagnosis is more complicated in these cases...