Top

Published in:

01-10-2011 | Professional Issues

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

Authors: Kathryn B. Sheets, Blythe G. Crissman, Cori D. Feist, Susan L. Sell, Lisa R. Johnson, Kelly C. Donahue, Diane Masser-Frye, Gail S. Brookshire, Amanda M. Carre, Danielle LaGrave, Campbell K. Brasington

Published in: Journal of Genetic Counseling | Issue 5/2011

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.

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

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

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.CrossRef

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.CrossRef

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

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.PubMedCrossRef

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

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.PubMedCrossRef

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.CrossRef

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

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

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

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.PubMedCrossRef

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.CrossRef

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.

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

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.PubMedCrossRef

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

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.

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

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.PubMedCrossRef

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.PubMedCrossRef

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

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

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.

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.

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

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.CrossRef

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.

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

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.CrossRef

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

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.

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.PubMedCrossRef

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.PubMedCrossRef

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

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

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

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.PubMedCrossRef

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

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.PubMedCrossRef

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.PubMedCrossRef

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.CrossRef

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.PubMedCrossRef

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

Title: Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors
Authors: Kathryn B. Sheets
Blythe G. Crissman
Cori D. Feist
Susan L. Sell
Lisa R. Johnson
Kelly C. Donahue
Diane Masser-Frye
Gail S. Brookshire
Amanda M. Carre
Danielle LaGrave
Campbell K. Brasington
Publication date: 01-10-2011
Publisher: Springer US
Published in: Journal of Genetic Counseling / Issue 5/2011
Print ISSN: 1059-7700
Electronic ISSN: 1573-3599
DOI: https://doi.org/10.1007/s10897-011-9375-8

Keynote webinar | Spotlight on medication adherence

Springer Medicine

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

Abstract

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 5/2011

An Exploration of the Cultural Context of Kinship and Genetics Amongst Arabic-Australians: Implications for Practice

Personality Traits Associated with Genetic Counselor Compassion Fatigue: The Roles of Dispositional Optimism and Locus of Control

Acceptability of Prenatal Diagnosis by a Sample of Parents of Sickle Cell Anemia Patients in Cameroon (Sub-Saharan Africa)

Pediatric Sub-specialist Controversies in the Treatment of Congenital Heart Disease in Trisomy 13 or 18

In Memoriam: Dr. Charles J. Epstein (1933–2011)

Clinical Use of the Surgeon General’s “My Family Health Portrait” (MFHP) Tool: Opinions of Future Health Care Providers