title: Potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic diseases.
abstract: Prenatal diagnosis of molecular mutations can be of immense value, since diagnosis followed by genetic counselling provides the most appropriate approach to genetic diseases control and prevention. However, ethical, psychosocial and religious considerations hamper adoption of prenatal diagnosis in communities where termination of a pregnancy may not be acceptable. Recently, preimplantation genetic diagnosis has attracted considerable interest. This involves in vitro fertilization, followed by genetic disorder diagnosis using polar bodies or cells extracted from a blastomere stage. The normal blastomere is implanted in the womb and pregnancy proceeds naturally. If an abnormality is diagnosed, the blastomere is not implanted, thus preventing pregnancy with the affected fetus. This paper outlines the potential usefulness of preimplantation genetic diagnosis in the control and prevention of genetic disease in our part of the world.
authors.affiliation: Medical Biochemistry Department, WHO Collaborating Centre for Haemoglobinopathies, Thalassaemias and Enzymopathies, College of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia.
authors.forename: M A
authors.initials: MA
authors.lastname: el-Hazmi
mesh_terms: D001294:Attitude to Health / Q000208:ethnology; D001675:Bioethics; D020732:Cytogenetic Analysis / Q000379:methods / Q000592:standards; D005307:Fertilization in Vitro; D030342:Genetic Diseases, Inborn / Q000175:diagnosis* / Q000235:genetics / Q000517:prevention & control*; D005820:Genetic Testing / Q000379:methods* / Q000523:psychology / Q000592:standards; D005838:Genotype; D007722:Health Knowledge, Attitudes, Practice; D006801:Humans; D007514:Islam / Q000523:psychology; D008877:Middle East; D025202:Molecular Diagnostic Techniques / Q000379:methods / Q000592:standards; D010375:Pedigree; D019836:Preimplantation Diagnosis / Q000379:methods* / Q000523:psychology / Q000592:standards; D011296:Prenatal Diagnosis; D012068:Religion and Medicine; D012069:Religion and Psychology; D015203:Reproducibility of Results