Prenatal, noninvasive and preimplantation genetic diagnosis of inherited disorders: hemoglobinopathies

摘要: Disorders of hemoglobin synthesis have been used as a prototype for the development most approaches prenatal diagnosis (PND). PND hemoglobinopathies based on molecular analysis trophoblast or amniocyte DNA has accumulated approximately 30 years experience. Disadvantages with conventional include 'invasive' fetal sampling and need to terminate affected ongoing pregnancies. New developments are directed towards improving both timing and/or safety procedures. Preimplantation genetic diagnosis, an established procedure 20 clinical application, avoids pregnancies through identification selective transfer unaffected in vitro fertilization embryos. Approaches 'noninvasive' PND, analyzing cells free present circulation pregnant women, focus research. Overall, preimplantation (and potentially PND) represent valuable reproductive options couples at risk having child severe inherited disease.