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职称:Professor
所属学校:University of Connecticut
所属院系:School of Medicine
所属专业:Genetics, General
联系方式:860-679-3614
Clinical diagnoses of genetic disorders are carried out by the clinical Medical Genetics Laboratories in the Department of Pathology and Laboratory Medicine. Women at high risk for fetal aneuploidy are identified through the laboratories’ prenatal screening program. The cytogenetics laboratory provides prenatal diagnosis by karyotyping amniotic fluid cells and chorionic villus samples. Cancer diagnosis and prognosis is carried out through the identification of specific chromosome translocations and other chromosome abnormalities present in leukemias, lymphomas, and solid tumors. Cytogenetic testing is also carried out to identify chromosome abnormalities associated with a variety of clinically defined syndromes and is also available for individuals with a history of infertility or recurrent pregnancy loss. Techniques used in the laboratory include karyotyping, fluorescence in situ hybridization (FISH), various molecular and clinical chemistry tests. We actively seek enhancements to these services and the development of new molecular approaches to the diagnosis of genetic disease.
The future of carrier screening and complexemerging ethical challenges Talk Int. Soc Prenatal Diagn, Screening SIG 2013 Lisbon, Portugal Cell free DNA testing in maternal blood Panel Discussion 12th World Congress n Fetal Med, Fetal Medicine Foundation 2013 Marbella, Spain Non-invasive aneuploidy testing using cfDNA: current status and future prospects Lecture European Cytogenetics Association, 9th Conference 2013 Dublin, Ireland Non-invasive prenatal testing Talk Genetics and Obstetrics Departments, Baystate Medical Center 2012 Baystate Medical Center, Springfield, MA Non-invasive prenatal diagnosis Talk University of CT Department of Allied Health Sciences 2012 Storrs, CT Prenatal Screening and Diagnosis Lecture IX Corso Resuidenziale di Genetica Medica, Chieti, Italy. Non-invasive Pr 2012 Chieti, Italy Use of Free Fetal Nucleic Acids in Maternal Plasma for Prenatal Diagnosis Lecture American Society for Clinical Pathology 2012 Webinar International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Prediction of adverse OB events due to abnormal placentation Panel Discussion International Society for Prenatal Diagnosis 2012 Miami, Floida International Society for Prenatal Diagnosis, Prenatal Screening Special Interest Group. Introduction to Prenatal Screening: Statistical and Quality Control Issues. Talk International Society for Prenatal Diagnosis 2012 Miami, Floida Non-invasive prenatal testing Talk Fetal Medicine Foundation/ International Society for Prenatal Diagnosis 2012 Kos, Greece Methods in invasive prenatal diagnosis Fetal Medicine Foundation/ International Society for Prenatal Diagnosis 2012 Kos, Greece Non-invasive prenatal testing Talk Unicorn Perinatal Lecture Series 2012 Regional hospitals, CT Invasive Prenatal Diagnosis Lecture 2nd Central-Eastern European Symposium on Free Nucleic Acids 2012 Olomouc, Czech Republic
