Research Departments & Organizations
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.
Specialized Terms: Clinical Genetics; Diagnosis and Therapy of Human Fetal Disease; Research Ethics as Applied to Human Subjects
Extensive Research Description
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.
Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease.
Fattal-Valevski A, DiMaio MS, Hisama FM, Hobson GM, Davis-Williams A, Garbern JY, Mahoney MJ, Kolodny EH, Pastores GM. Variable expression of a novel PLP1 mutation in members of a family with Pelizaeus-Merzbacher disease. Journal Of Child Neurology 2009, 24:618-24. 2009
LabCorp v. Metabolite Laboratories: The Supreme Court listens, but declines to speak.
Klein RD, Mahoney MJ. LabCorp v. Metabolite Laboratories: The Supreme Court listens, but declines to speak. The Journal Of Law, Medicine & Ethics : A Journal Of The American Society Of Law, Medicine & Ethics 2008, 36:141-9, 4. 2008
A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN.
Lehmann K, Seemann P, Silan F, Goecke TO, Irgang S, Kjaer KW, Kjaergaard S, Mahoney MJ, Morlot S, Reissner C, Kerr B, Wilkie AO, Mundlos S. A new subtype of brachydactyly type B caused by point mutations in the bone morphogenetic protein antagonist NOGGIN. American Journal Of Human Genetics 2007, 81:388-96. 2007
Medical legal issues in prenatal diagnosis.
Klein RD, Mahoney MJ. Medical legal issues in prenatal diagnosis. Clinics In Perinatology 2007, 34:287-97, vi. 2007
The comprehensive midtrimester test: high-sensitivity Down syndrome test.
Bahado-Singh R, Shahabi S, Karaca M, Mahoney MJ, Cole L, Oz UA. The comprehensive midtrimester test: high-sensitivity Down syndrome test. American Journal Of Obstetrics And Gynecology 2002, 186:803-8. 2002