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Deborah Anne Driscoll, M.D.

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Luigi Mastroianni, Jr. Professor of Obstetrics and Gynecology
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CPUP Clinical Operations Committee, chair, University of Pennsylvania Health System
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UPHS Professional Liability Oversight Committee, member, University of Pennsylvania Health System
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Associate staff, Princeton HealthCare System
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Board of Directors, member, Chester County Hospital and Health System
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Joint Committee, chair, Chester County Hospital
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Office of Inclusion and Diversity, Advisory Council member, Perelman School of Medicine, Univeristy of Pennsylvania
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Department: Obstetrics and Gynecology
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46 Contact information
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Department of Obstetrics and Gynecology
32 Hospital of the University of Pennsylvania
3a 3400 Spruce Street
Philadelphia, PA 19104-4283
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32 Fax: 215-662-7846
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13 Education:
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37 Smith College (Major: Biology), 1977.
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3f New York University School of Medicine, 1983.
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Description of Research Expertise

39 22q11.2 deletion syndrome, preterm birth
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Description of Clinical Expertise

a1 prenatal genetic diagnosis, genetic screening and counseling, obstetrical ultrasound, antenatal testing, amniocentesis, chorionic villus sampling
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Selected Publications

fa 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.

170 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.

106 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.

ae Junker A.K. and Driscoll, D.A.: Humoral Immunity in DiGeorge syndrome. J. of Peds 127: 231-237, 1995.

105 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.

163 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.

d1 Driscoll DA, Morgan MA, Schulkin J: Screening for Down syndrome: changing practice of obstetricians. Am J Obstet Gynecol 200(459), 2009.

107 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.

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