Maurice J. Mahoney

Professor of Genetics, Pediatrics, and Obstetrics and Gynecology; Director, Clinical Affairs

A.B. Cornell University, 1957
M.D. University of Pittsburgh, 1962
J.D. University of Connecticut, 1994

Research Interests:

Clinical Genetics
Diagnosis and Therapy of Human Fetal Disease

Our major interest is the diagnosis of human disease during fetal life. Using samples provided by a large fetal diagnosis service we are examining new technologies to improve the appraisal of fetal health by analysis of maternal serum, amniotic fluid, and placental and fetal tissue.

Current Research

We now have the capacity to biopsy tissues and to obtain fetal blood from the umbilical cord within the womb. Cytogenetic, biochemical, and molecular genetic analysis of these tissues and fluids are providing new insight into the details of normal and abnormal fetal development. New biopsy techniques, applied to chorionic villi (the developing placenta) of early pregnancies, are also permitting assessment of the human embryo. We are engaged in collaborative studies with other medical centers to assess, in large numbers of women, the safety of these techniques for both pregnant women and their unborn babies and to assess their accuracy. Under development are ways of visualizing the human embryo within the womb and safely obtaining tissues and blood samples from the embryo.

We are pursuing the evaluation of innovative fetal therapies. Several effective therapeutic approaches have been developed in recent years which include surgical intervention and the medical introduction of trace nutrients. Finally, methods are being developed to study the human pre-embryo prior to implantation as a forerunner of diagnostic procedures applied at that stage.

Representative Publications:

Bahado-Singh, R.O., Oz, U.A., Kovanci, E., Deren, O., Feather, M., Hsu, C.D., Copel, J.A., Mahoney, M.J. Gestational age standardized nuchal thickness values for estimating mid-trimester Down's syndrome risks. J. Matern. Fetal Med. 8:37-43, 1999.

Bahado-Singh, R., Oz, U., Rinne, K., Hunter, D., Cole, L., Mahoney, M.J., Baumgarten, A. Elevated maternal urine level of b-core fragment of human chorionic gonadotropin versus serum triple test in the second-trimester detection of Down syndrome. Am. J. Obstet. Gynecol. 181:929-933, 1999.

Gallagher, P.G., Mahoney, M.J., Gosche, J.R. Cystic hygroma in the fetus and newborn. Seminars Perinatol. 23:341-56, 1999.

Cole, L.A., Shahabi, S., Oz, U.A., Bahado-Singh, R.O., Mahoney, M.J. Hyperglycosylated human chorionic gonadotropin (invasive trophoblast antigen) immunoassay: a new basis for gestational Down syndrome screening. Clin. Chem. 45:2109-19, 1999.

Ozcan, T., Burki, N., Parkash, V., Huang, X., Pejovic, T., Mahoney, M.J., Ward, D.C. Cytogenetical diagnosis in paraffin-embedded fetoplacental tissue using comparative genomic hybridization. Prenat. Diagn. 20:41-44, 2000.

Updated 20 December 2000