Professionally Responsible Management Of The Ethical And Social Challenges Of Antenatal Screening And Diagnosis Of Beta-Thalassemia In A High-Risk Population

Thalassemias are amongthemost frequent genetic disorders worldwide. They are an important social and economic strain in high-risk populations. The benefit of beta-thalassemia screening programs is growing evident but the capacity to diagnose fetal beta-thalassemia exceeds the treatment possibilities and even when treatment before birth becomes feasible, difficult decisions about the relative risks will remain. This paper can be of practical and ethically justified aidwhen counselingwomen about screening, diagnosis, and treatment of beta-thalassemia. It takes in consideration various social challenges, medical issues such as antenatal screening, preimplantation genetic diagnosis, prenatal diagnosis, non-invasive prenatal testing and prenatal therapy. We also describe the Sardinian experience in applying and promoting high-risk population screening and diagnosis programs and future trends in themanagement of beta-thalassemia.