Photo of Brian G. Skotko, MD, MPP

Brian G. Skotko, MD, MPP

  • Co-Director, Down Syndrome Program


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Dr. Brian Skotko is an international expert on Down syndrome.




Centers & Specialties

MassGeneral Hospital for Children

Clinical Interests
  • Down syndrome
  • Trisomy 21
  • intellectual disabilities in children
  • medical genetics
  • Developmental delays
  • Genetics
  • Genetic testing
Medical Education
  • MD, Harvard Medical School
  • MPP, Harvard University Kennedy School of Government
  • Residency, Boston Medical Center
  • Fellowship, Boston Children's Hospital
Board Certifications
  • Clinical Genetics (M.D.)
  • Boston: Massachusetts General Hospital
  • Danvers: The Mass General/North Shore Center for Outpatient Care
Existing Patients
Patient Gateway
Insurances Accepted
  • Aetna Health Inc.
  • AllWays Health (NHP) - ACD
  • AllWays Health (NHP) - PBO
  • Beech Street
  • Blue Cross Blue Shield - Blue Care 65
  • Blue Cross Blue Shield - Indemnity
  • Blue Cross Blue Shield - Managed Care
  • Blue Cross Blue Shield - Partners Plus
  • BMC HealthNet Mass Health MCO/ACO
  • Cigna (PAL #'s)
  • Commonwealth Care Alliance
  • Fallon Community HealthCare
  • Great-West Healthcare (formally One Health Plan)
  • Harvard Pilgrim Health Plan - ACD
  • Harvard Pilgrim Health Plan - PBO
  • Health Care Value Management (HCVM)
  • Humana/Choice Care PPO
  • Maine Community Health Options (MCHO)
  • MassHealth
  • Medicare
  • Medicare - ACD
  • OSW - Connecticut
  • OSW - Maine
  • OSW - New Hampshire
  • OSW - New York
  • OSW - Rhode Island
  • OSW - Vermont
  • Private Health Care Systems (PHCS)
  • Railroad Medicare
  • Railroad Medicare - ACD
  • Senior Whole Health
  • TriCare
  • Tufts Health Plan
  • Unicare
  • United Healthcare (non-HMO) - ACD
  • United Healthcare (non-HMO) - PBO
  • Well Sense Pediatrics

Note: This provider may accept more insurance plans than shown; please call the practice to find out if your plan is accepted.

Patient Age Group
Adult and Pediatric
Provider Gender


Brian Skotko, MD, MPP, a Board-certified medical geneticist, has dedicated his professional energies toward children with cognitive and developmental disabilities. In 2001 he co-authored two national award-winning books. He received the Christian Pueschel Memorial Research Award for his pioneering research and has been featured guest on multiple TV and radio news shows.

Research & Publications

Research Summary

View my most recent research

A Board-certified medical geneticist and Co-Director of the Down Syndrome Program at Massachusetts General Hospital, Dr. Skotko has dedicated his professional energies toward children with cognitive and development disabilities. In 2001 he co-authored the national award-winning book, Common Threads: Celebrating Life with Down Syndrome and, most recently, Fasten Your Seatbelt: A Crash Course on Down Syndrome for Brothers and Sisters. He is a graduate of Duke University, Harvard Medical School, and Harvard Kennedy School. Dr. Skotko recently authored major research on how physicians deliver a diagnosis of Down syndrome to new and expectant parents. He has been featured in The Wall Street JournalThe New York TimesThe Washington PostThe L.A. Times, NPR’s “On Point,” and ABC’s “Good Morning America.” Dr. Skotko serves on the Honorary Board of Directors for the Massachusetts Down Syndrome Congress, the Board of Directors for the Band of Angels Foundation, and the Professional Advisory Committee for the National Center for Prenatal and Postnatal Down Syndrome Resources.


View my most recent publications at PubMed

Select Publications:

  • Skotko, B. (2005).  Prenatally diagnosed Down syndrome:  Mothers who continued their pregnancies evaluate their health care providers.  American Journal of Obstetrics & Gynecology, 192: 67P77
  • Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Having a Son or Daughter with Down Syndrome: Perspectives from Mothers and Fathers.  American Journal of Medical Genetics Part A 155:2335-2347.
  • Skotko, B.G., Levine, S.P., Goldstein, R. (2011). Having a Brother or Sister with Down Syndrome: Perspectives from Siblings. American Journal of Medical Genetics Part A: 155:2348-2359.
  • Skotko, B.G., Levine, S.P., Goldstein, R. (2011).  Self-perceptions from People with Down Syndrome. American Journal of Medical Genetics, Part A: 155:2360-2369.
  • Lavigne J, Sharr C, Elsharkawi I, Ozonoff A, Baumer N, Brasington C, Cannon S, Crissman B, Davidson E, Florez JC, Kishnani P, Lombardo A, Lyerly J, McDonough ME, Schwartz A, Berrier K, Sparks S, Stock-Guild K, Toler T, Vellody K, Voelz L, Skotko B. (2017). Thyroid dysfunction in patients with Down syndrome: Results from a multi-institutional registry study. American Journal of Medical Genetics Part A, 173A:1539-1545. 
  • Elsharkawi I, Gozal D, Macklin EA, Voelz L, Weintraub G, Skotko BG. (2017). Urinary biomarkers and obstructive sleep apnea in patients with Down syndrome.  Sleep Medicine, 34:84-89.

News & Events



Pediatric Genetics
55 Fruit Street
Yawkey 6C
Boston, MA 02114-2696
Phone: 617-726-1561
Fax: 617-726-4148

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