Clinical diagnoses of genetic disorders are carried out by the clinical Human Genetics Laboratories in the Division of Human Genetics, Department of Genetics and Developmental Biology.  Women at high risk for fetal aneuploidy are identified through the laboratories’ maternal serum 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. 

Recent research activities have focused on the development of improved prenatal screening tests for Down syndrome and other clinically significant aneuploidies.  Recent studies have shown that the combination of maternal serum screening and various fetal biometric measurements obtained by ultrasonography can substantially improve the efficacy of screening.  Studies have been carried out on the prevalence of aneuploidy and mathematical models developed that allow the estimation of the detection rates and false-positive rates of screening protocols.  Other research pursuits include an evaluation of the significance of prenatally detected mosaicism, and in particular, trisomy 16 mosaicism.  The preferential involvement of telomeres in the chromosome rearrangements present in aging human cells is also a long-term interest.