Haema 2011; 2(3): 319-329
by Christina Vrettou1,2, Joanne Traeger-Synodinos1, Emmanuel Kanavakis1,2
1Laboratory of Medical Genetics, University of Athens, Choremeio Research Laboratory, Aghia Sophia’s Children’s Hospital,
2Research Institute for the Study of Gene tic and Malignant Disorders in Childhood, Aghia Sophia’s Children’s Hospital, Athens
Abstract
Disorders of hemoglobin synthesis have been used as a prototype for the development of most approaches for prenatal diagnosis (PND). PND for hemoglobinopathies based on molecular analysis of trophoblast or amniocyte DNA has accumulated around 30 years of experience. Disadvantages with conventional PND include “invasive” fetal sampling, and the need to terminate affected ongoing pregnancies. New developments are directed towards improving both timing and/or safety of procedures. Preimplantation genetic diagnosis (PGD), an established procedure with twenty years of clinical application, avoids the need to terminate affected pregnancies, through identification and selective transfer of unaffected in-vitro fertilization (IVF) embryos. Approaches towards “non-invasive” PND (NIPD), through analysing fetal cells or free fetal DNA present in the circulation of pregnant women, are a focus of on-going research. Overall, PND, PGD (and potentially NIPD) represent valuable reproductive op- tions for couples at-risk for having a child affected with a severe inherited disease.