Skip to main content
SpringerLink
Log in

Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors

  • Professional Issues
  • Published:
Journal of Genetic Counseling

Abstract

Down syndrome is one of the most common conditions encountered in the genetics clinic. Due to improvements in healthcare, educational opportunities, and community inclusion over the past 30 years, the life expectancy and quality of life for individuals with Down syndrome have significantly improved. As prenatal screening and diagnostic techniques have become more enhanced and widely available, genetic counselors can expect to frequently provide information and support following a new diagnosis of Down syndrome. This guideline was written for genetic counselors and other healthcare providers regarding the communication of a diagnosis of Down syndrome to ensure that families are consistently given up-to-date and balanced information about the condition, delivered in a supportive and respectful manner.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

REFERENCES

  • American Academy of Pediatrics Committee on Genetics. (2001). Health supervision for children with Down syndrome. Pediatrics, 107(2), 442–449.

    Article  Google Scholar 

  • American Academy of Pediatrics (AAP) Committee on Genetics. (2007). AAP publications reaffirmed and retired. Pediatrics, 120(3), 683–684.

    Article  Google Scholar 

  • American College of Medical Genetics (2010). Standards and guidelines for clinical genetics laboratories: Section E, Clinical Cytogenetics (E11.1). Retrieved from http://www.acmg.net/StaticContent/SGs/Section_E_2010.pdf

  • American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. (2007a). ACOG practice bulletin no. 77. Screening for fetal chromosomal abnormalities. Obstetrics and Gynecology, 109(1), 217–227.

    Article  Google Scholar 

  • American College of Obstetricians and Gynecologists (ACOG) Committee on Practice Bulletins. (2007b). ACOG practice bulletin no. 88. Invasive prenatal testing for aneuploidy. Obstetrics and Gynecology, 110(6), 1459–1467.

    Article  Google Scholar 

  • Biesecker, B. B. (2001). Goals of genetic counseling. Clinical Genetics, 60(5), 323–330.

    Article  PubMed  CAS  Google Scholar 

  • Brasington, C. K. (2007). What I wish I knew then…Reflections from personal experiences in counseling about Down syndrome. Journal of Genetic Counseling, 16(6), 731–734.

    Article  PubMed  Google Scholar 

  • Brown, R., Taylor, J., & Matthews, B. (2001). Quality of life—ageing and Down syndrome. Down Syndrome Research and Practice, 6(3), 111–116.

    Article  CAS  Google Scholar 

  • Bryant, L. D., Murray, J., Green, J. M., Hewison, J., Sehmi, I., & Ellis, A. (2001). Descriptive information about Down syndrome: A content analysis of serum screening leaflets. Prenatal Diagnosis, 21, 1057–1063.

    Article  PubMed  CAS  Google Scholar 

  • Buckley, S., Bird, G., Sacks, B., & Archer, T. (2006). A comparison of mainstream and special education for teenagers with Down’s syndrome: Implications for parents and teachers. Down Syndrome Research and Practice, 9(3), 54–67.

    Article  Google Scholar 

  • Cohen, W. I. (1999). Health care guidelines for individuals with Down syndrome: 1999 revision. Down Syndrome Quarterly, 4(3), 1–15.

    CAS  Google Scholar 

  • Cooley, W. C. (1993). Supporting the family of the newborn with Down syndrome. Comprehensive Therapy, 19(3), 111–115.

    PubMed  CAS  Google Scholar 

  • Davidson, M. A. (2008). Primary care for children and adolescents with Down syndrome. Pediatric Clinics of North America, 55(5), 1099–1111.

    Article  PubMed  Google Scholar 

  • De Souza, E., Halliday, J., Chan, A., Bower, C., & Morris, J. K. (2009). Recurrence risks for trisomies 13, 18, and 21. American Journal of Medical Genetics. Part A, 149A(12), 2716–2722.

    Article  PubMed  Google Scholar 

  • Dent, K. M., & Carey, J. C. (2006). Breaking difficult news in a newborn setting: Down syndrome as a paradigm. American Journal of Medical Genetics. Part C: Seminars in Medical Genetics, 142(3), 173–179.

    Article  Google Scholar 

  • Egan, J. F., Smith, K., Timms, D., Bolnick, J. M., Campbell, W. A., & Benn, P. A. (2011). Demographic differences in Down syndrome livebirths in the US from 1989 to 2006. Prenatal Diagnosis. doi:10.1002/pd.2702.

    Google Scholar 

  • Gardner, R. J. M., & Sutherland, G. R. (2004). Chromosome abnormalities and genetic counseling (3rd ed.). New York: Oxford University Press, Inc.

    Google Scholar 

  • Glasson, E. J., Sullivan, S. G., Hussain, R., Petterson, B. A., Montgomery, P. D., & Bittles, A. H. (2002). The changing survival profile of people with Down’s syndrome: Implications for genetic counselling. Clinical Genetics, 62(5), 390–393.

    Article  PubMed  CAS  Google Scholar 

  • Harper, P. S. (2004). Practical genetic counselling (6th ed.). London: Edward Arnold, Ltd.

    Google Scholar 

  • Hart, D., Grigal, M., Sax, C., Martinez, D., & Will, M. (2006). Postsecondary education options for students with intellectual disabilities. Research to Practice, 45, 1–4.

    Google Scholar 

  • Hassold, T., & Sherman, S. (2000). Down syndrome: Genetic recombination and the origin of the extra chromosome 21. Clinical Genetics, 57(2), 95–100.

    Article  PubMed  CAS  Google Scholar 

  • Helm, D. T., Miranda, S., & Chedd, N. A. (1998). Prenatal diagnosis of Down syndrome: Mother’s reflections on supports needed from diagnosis to birth. Mental Retardation, 36(1), 55–61.

    Article  PubMed  CAS  Google Scholar 

  • Hodgson, J., & Spriggs, M. (2005). A practical account of autonomy: Why genetic counseling is especially well suited to the facilitation of informed autonomous decision making. Journal of Genetic Counseling, 14(2), 89–97.

    Article  PubMed  Google Scholar 

  • Jones, K. L. (Ed.). (2006). Smith’s recognizable patterns of human malformation (6th ed.). Philadelphia: Elsevier Inc.

    Google Scholar 

  • Krahn, G. L., Hallum, A., & Kime, C. (1993). Are there good ways to give ‘bad news’? Pediatrics, 91(3), 578–582.

    PubMed  CAS  Google Scholar 

  • Lejeune, J., Gautier, M., & Turpin, R. (1959). Etude des chromosomes somatiques de neuf enfants mongoliens. Les Comptes Rendus de l'Académie des sciences Paris, 248(11), 1721–1722.

    CAS  Google Scholar 

  • Leshin, L. (2002). Pediatric health update on Down syndrome. In W. I. Cohen, L. Nadel, & M. E. Madnick (Eds.), Down syndrome: Visions for the 21st century. New York: Wiley-Liss, Inc.

    Google Scholar 

  • National Society of Genetic Counselors. (1992). Code of ethics. Journal of Genetic Counseling, 1(1), 41–43.

    Article  Google Scholar 

  • Parker, S. E., Mai, C. T., Canfield, M. A., Rickard, R., Wang, Y., Meyer, R. E., et al. (2010). Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006. Birth Defects Research. Part A: Clinical and Molecular Teratology, 88(12), 1008–1016.

    Article  CAS  Google Scholar 

  • Patterson, B. (2002). Behavioral concerns in persons with Down syndrome. In W. I. Cohen, L. Nadel, & M. E. Madnick (Eds.), Down syndrome: Visions for the 21st Century. New York: Wiley-Liss, Inc.

    Google Scholar 

  • Powell, N. (1991). Your baby has Down’s syndrome. Nursing Times, 87, 60–61.

    Google Scholar 

  • Pradhan, M., Dalal, A., Khan, F., & Agrawal, S. (2006). Fertility in men with Down syndrome: A case report. Fertility and Sterility, 86(6), 1765.e1–1765.e3.

    Article  Google Scholar 

  • Prenatally and Postnatally Diagnosed Conditions Awareness Act of 2008. Public Law 110–374, 122 Stat. 4051 (October 8, 2008)

  • Pueschel, S., & Murphy, A. (1975). Counseling parents of infants with Down’s syndrome. Postgraduate Medicine, 58(7), 90–95.

    PubMed  CAS  Google Scholar 

  • Pueschel, S. M., & Murphy, A. (1976). Assessment of counseling practices at the birth of a child with Down’s syndrome. American Journal of Mental Deficiency, 81(4), 325–330.

    Google Scholar 

  • Rihtman, T., Tekuzner, E., Parush, S., Tenebaum, A., Bachrach, S. J., & Ornoy, A. (2010). Are the cognitive functions of children with Down syndrome related to their participation? Developmental Medicine and Child Neurology, 52(1), 72–78.

    Article  PubMed  Google Scholar 

  • Savva, G. M., Morris, J. K., Mutton, D. E., & Alberman, E. (2006). Maternal age-specific fetal loss rates in Down syndrome pregnancies. Prenatal Diagnosis, 26(6), 499–504.

    Article  PubMed  Google Scholar 

  • Sheets, K. B., Best, R. G., Brasington, C. K., & Will, M. C. (2011). Balanced information about Down syndrome: What is essential? American Journal of Medical Genetics. Part A. doi:10.1002/ajmg.a.34018

    PubMed  Google Scholar 

  • Skotko, B. (2005a). Mothers of children with Down syndrome reflect on their postnatal support. Pediatrics, 115(1), 64–77.

    PubMed  Google Scholar 

  • Skotko, B. G. (2005b). Communicating the postnatal diagnosis of Down’s syndrome: An international call for change. Italian Journal of Pediatrics, 31, 237–243.

    Google Scholar 

  • Skotko, B. G. (2005c). Prenatally diagnosed Down syndrome: Mothers who continued their pregnancies evaluate their health care providers. American Journal of Obstetrics and Gynecology, 192(3), 670–677.

    Article  PubMed  Google Scholar 

  • Skotko, B., & Bedia, R. C. (2005). Postnatal support for mothers of children with Down syndrome. Mental Retardation, 43(3), 196–212.

    Article  PubMed  Google Scholar 

  • Skotko, B. G., Capone, G. T., Kishnani, P. S., & for the Down Syndrome Diagnosis Study Group. (2009). Postnatal diagnosis of Down syndrome: Synthesis of the evidence on how to best deliver the news. Pediatrics, 124(4), e751–e758.

    Article  PubMed  Google Scholar 

  • Skotko, B. G., Kishnani, P. S., Capone, G. T., & for the Down Syndrome Diagnosis Study Group. (2009). Prenatal diagnosis of Down syndrome: How best to deliver the news. American Journal of Medical Genetics. Part A, 149A(11), 2361–2367.

    Article  PubMed  Google Scholar 

  • Snijders, R. J. M., Sundberg, K., Holzgreve, W., Henry, G., & Nicolaides, K. H. (1999). Maternal age-and gestation-specific risk for trisomy 21. Ultrasound in Obstetrics & Gynecology, 13(3), 167–170.

    Article  CAS  Google Scholar 

  • Warburton, D., Dallaire, L., Thangavelu, M., Ross, L., Levin, B., & Kline, J. (2004). Trisomy recurrence: A reconsideration based on North American data. American Journal of Human Genetics, 75, 376–385.

    Article  PubMed  CAS  Google Scholar 

  • Williams, C., Alderson, P., & Farsides, B. (2002). What constitutes balanced information in the practitioners’ portrayals of Down’s syndrome? Midwifery, 18, 230–237.

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Medical Genetics, Duke University Medical Center, 595 LaSalle Street, GSRB1, Box 103857, Durham, NC, 27710, USA

    Kathryn B. Sheets & Blythe G. Crissman

  2. Division of Maternal Fetal Medicine, Oregon Health and Science University, Portland, OR, USA

    Cori D. Feist

  3. Department of Genetics, Penn State Hershey Children’s Hospital, Hershey, PA, USA

    Susan L. Sell

  4. Center for Maternal-Fetal Medicine, Dayton, OH, USA

    Lisa R. Johnson

  5. Division of Maternal Fetal Medicine, West Penn Allegheny Health System, Pittsburgh, PA, USA

    Kelly C. Donahue

  6. Department of Genetics and Dysmorphology, Rady Children’s Hospital, San Diego, CA, USA

    Diane Masser-Frye

  7. Department of Genetics and Metabolism, Children’s Medical Center, Dallas, TX, USA

    Gail S. Brookshire

  8. Department of Obstetrics and Gynecology, Drexel University College of Medicine, Philadelphia, PA, USA

    Amanda M. Carre

  9. Genetics Division, ARUP Laboratories, Salt Lake City, UT, USA

    Danielle LaGrave

  10. Department of Clinical Genetics, Carolinas Medical Center, Charlotte, NC, USA

    Campbell K. Brasington

Authors
  1. Kathryn B. Sheets
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Blythe G. Crissman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Cori D. Feist
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Susan L. Sell
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Lisa R. Johnson
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Kelly C. Donahue
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Diane Masser-Frye
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Gail S. Brookshire
    View author publications

    You can also search for this author in PubMed Google Scholar

  9. Amanda M. Carre
    View author publications

    You can also search for this author in PubMed Google Scholar

  10. Danielle LaGrave
    View author publications

    You can also search for this author in PubMed Google Scholar

  11. Campbell K. Brasington
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Kathryn B. Sheets.

Additional information

© 2011 National Society of Genetic Counselors. All rights reserved. This document may not, in whole or in part, be reproduced, copied or disseminated, entered into or stored in a computer database or retrieval system, or otherwise utilized without the prior written consent of the NSGC.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Sheets, K.B., Crissman, B.G., Feist, C.D. et al. Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors. J Genet Counsel 20, 432–441 (2011). https://doi.org/10.1007/s10897-011-9375-8

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10897-011-9375-8

Keywords

Search

Navigation