Medical Genetics | Montefiore Einstein

Dr. Klugman is a "medical detective" who works to identify the possible genetic risk factors for many inherited diseases. She encourages couples to consider genetic testing even before they get married so they can be as informed as possible when planning their families. Dr. Klugman’s clinical focus is on the evaluation of patients and families at risk for genetic disorders during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. She also provides evaluations for patients at risk for hereditary cancer syndromes.

Dr. Klugman has appeared on ABC World News Tonight with Diane Sawyer and WABC-TV Ch. 7. She has also been profiled and quoted in numerous articles in the Westchester Journal News.

Research Profile

https://einsteinmed.edu/faculty/2154/Susan-Klugman

Clinical Profile

https://montefioreeinstein.org/profiles/1649350117/susan-d-klugman

CHAM Provider

Professional Title

M.D.

Clinical Focus

 Dr. Klugman’s clinical focus is on the evaluation of patients and families at risk for genetic disorders during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies. She also provides evaluations for patients at risk for hereditary cancer syndromes.

Research Focus

Dr. Klugman’s research focuses on novel methods for prenatal screening, testing and diagnosis as well as the assessment of new modalities for diagnoses and treatment of hereditary cancer syndromes.

Elsevier Profile

https://einstein.pure.elsevier.com/en/persons/7f0ba160-2ae5-4a33-b81e-67fed5690…

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. <a href="http://www.ncbi.nlm.nih.gov/pubmed/26354339">Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.</a> Journal of Genetic Counseling. 2016 Feb;25(1):18-24.
Wiesman C, Rose E, Klugman S, Schreiber-Agus N. <a href="http://www.ncbi.nlm.nih.gov/pubmed/26611540">From Campers to Counselors: a Resource for Prospective Genetic Counseling Students.</a>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
<a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Rinella%20ES%5BAuthor%5D&ca… ES</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Shao%20Y%5BAuthor%5D&cautho… Y</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Yackowski%20L%5BAuthor%5D&c… L</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Pramanik%20S%5BAuthor%5D&ca… S</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Oratz%20R%5BAuthor%5D&cauth… R</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Schnabel%20F%5BAuthor%5D&ca… F</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Guha%20S%5BAuthor%5D&cautho… S</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=LeDuc%20C%5BAuthor%5D&cauth… C</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Campbell%20CL%5BAuthor%5D&c… CL</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Klugman%20SD%5BAuthor%5D&ca…; SD</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Terry%20MB%5BAuthor%5D&caut… MB</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Senie%20RT%5BAuthor%5D&caut… RT</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Andrulis%20IL%5BAuthor%5D&c… IL</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Daly%20M%5BAuthor%5D&cautho… M</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=John%20EM%5BAuthor%5D&cauth… EM</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Roses%20D%5BAuthor%5D&cauth… D</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Chung%20WK%5BAuthor%5D&caut… WK</a>, <a href="http://www.ncbi.nlm.nih.gov/pubmed?term=Ostrer%20H%5BAuthor%5D&caut… H</a>. 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.
<a href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=pubmed&cmd=Retriev… DR, Goldberg Y, Basel D, Kilpatrick MW, Klugman S, Tsipouras P, Gross S.</a>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

EMR ID

3754

Biography

Susan Klugman, MD, FACOG, FACMG, is Director, Reproductive and Medical Genetics, Program Director, Medical Genetics and Genomics Residency and Professor, Obstetrics & Gynecology and Women’s Health and Pediatrics at Montefiore Einstein. Her clinical focus is on the evaluation of patients and families at risk for genetic disorders including those patients at risk for hereditary cancer syndromes. She also provides evaluations during pregnancy or preconception, including prenatal diagnosis and consultation for patients undergoing assisted reproductive technologies.After completing her Bachelor of Science at Cornell University in 1984, Dr. Klugman attended New York University School of Medicine, earning her Doctor of Medicine in 1988. She pursued her postdoctoral training at Montefiore Einstein and Jacobi Medical Center, completing her obstetrics and gynecology residency in 1992 and serving as administrative chief resident in her final year. In 2002, she continued her medical training at Montefiore Einstein in medical genetics, completing the program in 2004.Dr. Klugman’s research focuses on novel methods for prenatal screening, testing and diagnosis as well as the assessment of new modalities for the diagnosis and treatment of hereditary cancer syndromes. Her work has been published in peer-reviewed journals, book chapters and other print publications. She was the Reproductive Genetics Editor for Genetics in Medicine and has been a reviewer for journals such as the American Journal of Medical Genetics, Obstetrics and Gynecology and Prenatal Diagnosis. Dr. Klugman has spoken extensively at regional and national medical conferences, including more than 70 international and national invited presentations.Dr. Klugman has served on the board of the American College of Medical Genetics since 2015 and will be President from 2023 to 2025. She has completed six-year terms on both the Committee on Genetics of the American Board of Obstetrics and Gynecology and the Residency Review Committee for Medical Genetics for the Accreditation Council of Graduate Medical Education. She is board certified in both obstetrics and gynecology and medical genetics and is listed in several medical directories including Who’s Who in Medical Sciences Education, Who’s Who in Academic Medicine, New York Magazine Best Doctors list, and Castle Connelly How to Find the Best Metro Area Doctors.

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