Deborah Anne Driscoll, MD

Luigi Mastroianni, Jr. Professor of Obstetrics and Gynecology

• Office of Inclusion and Diversity, Advisory Council member, Perelman School of Medicine, Univeristy of Pennsylvania
• Joint Committee, chair, Chester County Hospital
• Board of Directors, member, Chester County Hospital and Health System
• Associate staff, Princeton HealthCare System
• UPHS Professional Liability Oversight Committee, member, University of Pennsylvania Health System
• CPUP Clinical Operations Committee, chair, University of Pennsylvania Health System

Department: Obstetrics and Gynecology

Description of Clinical Expertise

prenatal genetic diagnosis, genetic screening and counseling, obstetrical ultrasound, antenatal testing, amniocentesis, chorionic villus sampling

Description of Research Expertise

22q11.2 deletion syndrome, preterm birth

Selected Publications

• Driscoll, D.A., Budarf, M.L., Emanuel, B.S. : A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. Am. J. Hum. Genet. 50 : 924-933, 1992
• Driscoll, D.A., Spinner, N.B., Budarf, M.L., McDonald-McGinn, D.M., Zackai, E.H., Goldberg, R.B., Shprintzen, R.J., Saal, H.M., Zonana, J., Jones, M.C., Mascarello, J.T., Emanuel, B.S. : Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. Am. J. Med. Genet. 44 : 261-268, 1992
• McLean, S.D., Saal, H.M., Spinner, N.B., Emanuel, B.S. and Driscoll, D.A. : Velo-cardio-facial syndrome: Intra-familial variability of the phenotype. Am. J. Dis. Child. 147 : 1212-1216, 1993
• Junker A.K. and Driscoll, D.A. : Humoral Immunity in DiGeorge syndrome. J. of Peds 127 : 231-237, 1995
• Driscoll, D.A. and Emanuel, B.S. : DiGeorge and velocardiofacial syndrome: the 22q11 deletion syndrome. Mental Retardation and Developmental Disabilities Research Reviews 2 : 130-138, 1996
• Goldmuntz E., Clark, B.J., Mitchell, L.E., Jawad, A.F., Reed, L., McDonald-McGinn, DM., Cuneo, B.F., Chien, P., Feuer, J., Zackai, E.H., Emanuel, B.S., Driscoll, D.A. : Frequency of 22q11 deletions in patients with conotruncal defects. J. Am. College of Cardiology 32 : 492-498, 1998
• Driscoll DA, Morgan MA, Schulkin J : Screening for Down syndrome: changing practice of obstetricians Am J Obstet Gynecol 200(459) 2009
• Wapner RJ, Driscoll DA, Simpson JL : Integration of microarray technology into prenatal diagnosis: counseling issues generated during the NICHD clinical trial. Prenat Diagn 32 : 396-400, 2012