Register      Login

VOLUME 2 , ISSUE 4 ( October-December, 2023 ) > List of Articles


In a Spot to Break that News? Delivering a Diagnosis of Down Syndrome to an Unaware Family

Keywords : Alpha fetoprotein, Atrial septal defect, AV canal defects, Babies with Down Syndrome, Beta-human chorionic gonadotropin, Delivering the diagnosis of Down Syndrome, Dimeric inhibin A, Down Syndrome Education International, Down Syndrome Federation of India, Fetal echocardiography, John Langdon Down, Level 2 ultrasonography, Mongoloid, National Down Syndrome Society, Patent ductus arteriosus, Penta screen, Prenatal counseling, Trisomy 21, Unconjugated estriol, Ventricular septal defect

Citation Information : In a Spot to Break that News? Delivering a Diagnosis of Down Syndrome to an Unaware Family. 2023; 2 (4):245-248.

DOI: 10.5005/jp-journals-11002-0082

License: CC BY-NC 4.0

Published Online: 05-01-2024

Copyright Statement:  Copyright © 2023; The Author(s).


This communication presents the views of a cardiologist mother who is raising a child with Down Syndrome/Trisomy 21. She has described her initial emotional struggles and then the subsequent journey, which has required her best efforts to support the child. In this article, she has focused on how medical professionals can make an impact by interacting with families in a positive, encouraging way, and has listed resources that may be of help. She reminds us that there is considerable variability in the outcomes of these children, and hence, not to unnecessarily begin with a negative view of the prognosis. It is important for us to not give up; society must come together, and courageous efforts can help optimize the care for these children and families.

  1. Ward OC. John Langdon Down: The man and the message. Downs Syndr Res Pract 1999;6(1):19–24. DOI: 10.3104/perspectives.94.
  2. Antonarakis SE, Skotko BG, Rafii MS, et al. Down syndrome. Nat Rev Dis Primers 2020;6(1):9. DOI: 10.1038/s41572-019-0143-7.
  3. Society NDS. Preferred Language Washington DC: NDSS; 2023. Available from:
  4. Birch CA. Down's syndrome. John Langdon Haydon Langdon-Down 1828–1896. Practitioner 1973;210(255):171–172. PMID: 4268293.
  5. Rodriguez-Hernandez ML, Montoya E. Fifty years of evolution of the term Down's syndrome. Lancet 2011;378(9789):402. DOI: 10.1016/S0140-6736(11)61212-9.
  6. Pennsylvania GAotCo. Down's syndrome – Prohibiting use of term “Mongolism”. Act of Oct. 10, 1980, P.L. 799, No. 149 1980. Available from:
  7. Society NDS. Friendships & Social Relationships Washington, DC: National Down Syndrome Society; 2023. Available from:
  8. Sheets KB, Crissman BG, Feist CD, et al. Practice guidelines for communicating a prenatal or postnatal diagnosis of Down syndrome: Recommendations of the national society of genetic counselors. J Genet Couns 2011;20(5):432–441. DOI: 10.1007/s10897-011-9375-8.
  9. National Center on Birth Defects and Developmental Disabilities CfDCaP. Data and Statistics on Down Syndrome Altanta, GA: Centers for Disease Control and Prevention; 2023. Available from:
  10. Tenenbaum A, Hanna RN, Averbuch D, et al. Hospitalization of children with Down syndrome. Front Public Health 2014;2:22. DOI: 10.3389/fpubh.2014.00022.
  11. Dimopoulos K, Constantine A, Clift P, et al. Cardiovascular complications of Down syndrome: Scoping review and expert consensus. Circulation 2023;147(5):425–441. DOI: 10.1161/CIRCULATIONAHA.122.059706.
  12. Baksh RA, Pape SE, Chan LF, et al. Multiple morbidity across the lifespan in people with Down syndrome or intellectual disabilities: A population-based cohort study using electronic health records. Lancet Public Health 2023;8(6):e453–e462. DOI: 10.1016/S2468-2667(23)00057-9.
  13. Esbensen AJ. Health conditions associated with aging and end of life of adults with Down syndrome. Int Rev Res Ment Retard 2010;39(C):107–126. DOI: 10.1016/S0074-7750(10)39004-5.
  14. Mason WA, Fleming CB, Ringle JL, et al. Reducing risks for problem behaviors during the high school transition: Proximal outcomes in the common sense parenting trial. J Child Fam Stud 2015;24(9): 2568–2578. DOI: 10.1007/s10826-014-0059-5.
  15. Huiracocha L, Almeida C, Huiracocha K, et al. Parenting children with Down syndrome: Societal influences. J Child Health Care 2017;21(4):488–497. DOI: 10.1177/1367493517727131.
  16. Jackson L, Cichon M, Kleinert H, et al. Teaching medical students how to deliver diagnoses of Down syndrome: Utility of an educational tool. Patient Educ Couns 2020;103(3):617–625. DOI: 10.1016/j.pec.2019.10.011.
  17. Society NDS. Updates Washington, DC: National Down Syndrome Society; 2023. Available from:
  18. International DsE. Down syndrome Education International Newport Beach, CA: Down Syndrome Education International 2023. Available from:
  19. India Dsfo. Down syndrome federation of India Chennai, India: Down syndrome federation of India; 2023. Available from:
  20. Skallerup S. Babies with Down syndrome: A new parents’ guide. 3rd ed. North Bethesda, Maryland: Woodbine House; 2008 09/28/2008,. p. 358.
  21. Hamburg S, Lowe B, Startin CM, et al. Assessing general cognitive and adaptive abilities in adults with Down syndrome: A systematic review. J Neurodev Disord 2019;11(1):20. DOI: 10.1186/s11689-019-9279-8.
PDF Share
PDF Share

© Jaypee Brothers Medical Publishers (P) LTD.