Faculty Profile

Dr. Susan D. Klugman, M.D.

Susan D. Klugman, M.D.

Professor, Department of Obstetrics & Gynecology and Women's Health (Reproductive & Medical Genetics)

Professor, Department of Pediatrics

Director of Reproductive Genetics, Department of Obstetrics & Gynecology and Women's Health

Areas of Research: Prenatal Diagnosis Non Invasive Prenatal Screening Expanded Carrier Screening Hereditary Cancer Syndromes Jewish Genetics Zika Genetic Education

Selected Publications

Syeda M, Upadhyay K, Loke J, Klugman S, Pearlman A, Shao Y, Ostrer H, Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood B cells, Genetics in Medicine, March 16, 2017

Aung C, Greb A, Kalia I, Bajaj K, Klugman S, Patient Perspectives on Intimate Partner Violence Discussion during Genetic Counseling Sessions, Journal of Genetic Counseling, December 9, 2016

Wiesman C, Rose E, Grant A, Zimlover A, Klugman S, Schreiber-Agus N, Experiences from a pilot program bringing BRCA1/2 genetic screening to the U.S. Ashkenazi Jewish population - The BRCAcommunity Initiative: Results and Reflections from Year 1, Genetics in Medicine, October 2016

Gregg A, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, Klugman S, Watson MS, Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics, Genetics in Medicine, October 18 2016

Shani H, Goldwaser T, Keating J, Klugman S, Chromosomal abnormalities not currently detected by cell-free fetal DNA: a retrospective analysis at a single center, American Journal of Obstetrics and Gynecology, Jun 2016; 214(6):729.e1-729.

Rose E, Schreiber-Agus N, Bajaj K, Klugman S, Goldwaser T. Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase. Journal of Genetic Counseling. 2016 Feb;25(1):18-24.

Wiesman C, Rose E, Klugman S, Schreiber-Agus N. From Campers to Counselors: a Resource for Prospective Genetic Counseling Students.Journal of Genetic Counseling. 2015 Nov 27

Ferraira, JC, Shreiber-Agus N, Carter SM, Klugman S, Grieg AR, Gross SJ Carrier testing for Ashkenazi Jewish disorders in the prenatal setting: navigating the genetic maze, American Journal of Obstetrics & Gynecology, 2014 Sept (3) 194-204.

Klugman S, Dolan SM. Expanded genetic testing in assisted reproductive technology: lessons learned from prenatal testing. Virtual Mentor 2014 Jan 1;(16)1: 38-42

Klugman S, Suskin,B, Spencer B, Dar P, Bajaj K, Powers, J, Reichling J, Wasserman D, Dolan S, Merkatz I. Clinical Utility of Chromosomal Microarray Analysis in Prenatal Diagnosis: Report of First 6 Months in Clinical Practice The Journal of Maternal-Fetal and Neonatal Medicine 2013 Nov 26

Klugman S, Schreiber-Agus N, Nazareth S, Evans, EDetection of Carriers in the Ashkenazi Jewish Population: An Objective Comparison of High-Throughput Genotyping vs Gene by Gene Genetic Testing and Molecular Biomarkers 2013 Oct;17(10):763-7

Gutiérrez JF, Bajaj K, Klugman SD. Prenatal screening for fragile x: carriers, controversies, and counseling. Reviews in Obstetrics and Gynecology 2013;6(1):e1-7

Rinella ES, Shao Y, Yackowski L, Pramanik S, Oratz R, Schnabel F, Guha S, LeDuc C, Campbell CL, Klugman SD, Terry MB, Senie RT, Andrulis IL, Daly M, John EM, Roses D, Chung WK, Ostrer H. Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation Hum Genet 2013 May 132(5) 523-26.

Wapner RJ, Martin CL, Levy B, Ballif BC, Eng CM, Zachary JM, Savage M, Platt LD, Saltzman D, Grobman WA, Klugman S, Scholl T, Simpson JL, McCall K, Aggarwal VS, Bunke B, Nahum O, Patel A, Lamb AN, Thom EA, Beaudet AL, Ledbetter DH, Shaffer LG, Jackson L. Chromosomal microarray versus karyotyping for prenatal diagnosis. New England Journal of Medicine 2012 Dec    6:367(23) 2175-8

Robin,NH, Reid Sutton V, Caldwell J, Jackson J, Irons M, Demmer L, Byers P, Ellison J, Feldman J, Gross S, Klugman S, Adam A, Keppler-Noreuil K, Hopkin R, McCandless S, Sharer D, Wiesner G, Pyeritz R, Westerman J    The development and implementation of an In-service exam for medical genetics residency programs. Genetics in Medicine 2012 May 14 (5):552-7

Yachelevich N, Gittler JK, Klugman S, Feldman B, Martin J, Brooks  SS, Dobkin C, Nolin SL. Terminal deletions  of the long arm of chromosome X that include the FMR1 gene in female patients: A case series. American Journal of Medical Genetics A. 2011 Apr;155(4):870-4.

Gross, SJ, Bajaj K, Garry D, Klugman S, Karpel BM, Roe AM Wagner BJ, Zhan J, Apfelroth SD, Schreiber-Agus N: Rapid and novel prenatal molecular assay for detecting aneuploides and microdeletion syndromes. Prenatal Diagnosis 2011 31(3):259-66

Ram, KT, Klugman, SD: Best practices: antenatal screening for Common genetic conditions other than aneuploidy. Current Opinions in Obstetrics and Gynecology 2010 22(2):139-45 

Klugman, S, Gross, SJ: Ashkenazi Jewish screening in the twenty-first century. Obstetric and Gynecologic Clinics of North America 2010 37(1): 37-46  

Rybak, EA, Beviliacqua, K, Veit, CR, Klugman, SD, Santoro N: Sibling and self ovum donation for sisters with an intermediate FMR1 mutation: what's a program to do. Fertility and Sterility 2009 92(1): 394

Klugman, S, Gross SJ, Khabele D, Liang, J, Lopez-Jones, M, Gross, B, Cordero, DR, Reznik, S: Expression of Keratin 8 and TNF-Related Apoptosis-I Inducing Ligand (TRAIL) in Down Syndrome Placentas. Placenta 2008 29(4):382-4

Breathnach FM, Malone FD, Lambert-Messerlian G, Cuckle HS, Porter TF, Nyberg DA, Comstock CH, Saade GR, Berkowitz RL, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR, Wolfe HM, TrippT, Bianchi DW, D’Alton ME; First and second Trimester screening detection of aneuploides other than Down Syndrome.  Obstetrics and Gynecology 2007 110(3):651-7

Eddleman KA, Malone FD, Sullivan L, Dukes K, Berkowitz RL, KharbutliY, Porter TF, Luthy DA, Comstock CH, Saade GR, Klugman S, Dugoff L, Craigo SD, Timor-Tritsch IE, Carr SR Wolfe HM, D’Alton ME. Pregnancy loss rates after midtrimester Amniocentesis. Obstetrics and Gynecology. 2006 108:1067-72

Lambert-Messerlian, G., Dugoff, L., Vidaver, J., Canick, J.A., Malone, F.D., Ball, R.H., Comstock, C.H., Nyberg, D.A., Saade, G., Eddleman, K., Klugman, S., Craigo, S.D., Timor-Tritsch, I.E., Carr, S.R., Wolfe, H.M. & D’Alton, M.E. (2006). First- and second-trimester Down syndrome screening markers in pregnancies achieved through assisted reproductive technologies (ART): A FASTER trial study.  Prenatal Diagnosis, 26(8):672-8.

Healy AJ, Malone FD, Sullivan LM, Porter TF, Luthy DA, Comstock CH, Saade G, Berkowitz  R, Klugman S, Dugoff L, Craigo  SD, Timor-Tritsch I, Carr SR, Wolfe HM, Bianchi DW,  D'Alton ME. Early Access to Prenatal Care: Implications for Racial Disparity in Perinatal Mortality. Obstetrics and Gynecology. 2006 107(3):625-631.

Cordero DR, Goldberg Y, Basel D, Kilpatrick MW, Klugman S, Tsipouras P, Gross S.Prenatal sonographic diagnosis of Grebe syndrome. Journal of Ultrasound in Medicine. 2006 (1):115-8

Cleary-Goldman J, Malone FD, Vidaver J, Ball RH, Nyberg DA, Comstock CH, Saade GR, Edelmann KA, Klugman S, Timor-Tritsch IE, Craigo SD, Carr SR, Wolfe HM, Bianchi DW, D’Alton M Faster Consortium, “Impact of maternal age on obstetric outcome.” Obstetrics and Gynecology 2005 Vol. 105(5 Pt 1):983-90

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Research Information

In the News

In a New York Times letter to the editor, geneticist Dr. Susan Klugman explains how new genetic tests can guide treatment when BRCA is negative but women are at high risk.

The New York Times published a letter to the editor by Dr. Susan Klugman explaining the problems with genetic tests for Tay-Sachs disease and the benefits of using enzyme testing to accurately identify carriers. 

More media coverage