Deborah Anne Driscoll

Luigi Mastroianni, Jr. Professor of Obstetrics and Gynecology

Additional Appointment Titles

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

Education

• A.B.
  Smith College (Major: Biology), 1977.
• M.D.
  New York University School of Medicine, 1983.

Post-Graduate Training

• Intern in Obstetrics and Gynecology, Hospital of the University of Pennsylvania, 1983-1984.
• Resident in Obstetrics and Gynecology, Hospital of the University of Pennsylvania, 1984-1987.
• Fellowship in Reproductive Genetics, Hospital of the University of Pennsylvania, 1987-1989.

Description of Research Expertise

22q11.2 deletion syndrome, preterm birth

Description of Clinical Expertise

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

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.