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Margretta R. Seashore
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
* Research Ethics as Applied to Human Subjects
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:
Collaborative studies with members of the Department of Obstetrics & Gynecology at Yale and other medical centers are addressing the biology of the human conceptus, embryo, and fetus and methods of prenatal diagnosis and possible fetal therapies in human pregnancies.
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, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: high-sensitivity Down syndrome test. Am J Obstet Gynecol 186:803-8, 2002.
Mahoney MJ. Genetics and medicine in The Yale Guide to Careers in Medicine & the Health Professions. Pathways to Medicine in the 21st Century, Donaldson, RMJr, Lundgren KS, Spiro HM (eds), Yale Univ Press, New Haven, pp 271-5, 2003.
Wapner R, Thom E, Simpson, JL, Pergament E, Silver R, Filkins K, Platt L, Mahoney M, Johnson A, Hogge WA, Wilson, RD, Mohide P, Hershey D, Krantz D, Zachary J, Snijders R, Greene N, Sabbagha R, MacGregor S, Hill L, Gagnon A, Hallahan T, Jackson L. First-Trimester Screening for Trisomies 21 and 18. New Engl J Med 349:1405-13, 2003.
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