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

@article{Sheets2011PracticeGF,
  title={Practice Guidelines for Communicating a Prenatal or Postnatal Diagnosis of Down Syndrome: Recommendations of the National Society of Genetic Counselors},
  author={Kathryn B. Sheets and Blythe G. Crissman and Cori D. Feist and Susan L. Sell and L R Johnson and Kelly C. Donahue and Diane Masser-Frye and G S Brookshire and Amanda Carr{\'e} and Danielle Lagrave and Campbell K. Brasington},
  journal={Journal of Genetic Counseling},
  year={2011},
  volume={20},
  pages={432-441}
}
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… 
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The model was considered satisfactory, but further research is needed to identify ways to improve knowledge retention by this population, and the utility of referring families for genetic counseling when there is a suspicion of a diagnosis of Down syndrome is highlighted.
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TLDR
Legislation requiring accurate information be given to families was not always followed, and printed literature alone did not correlate with improved parent experience; additional efforts are necessary to ensure that the experience receiving a diagnosis of Down syndrome is not a negative one.
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The coalescence of advances in molecular genetics, fetal imaging and noninvasive prenatal screening, has culminated in the provision of new opportunities for the prevention or avoidance of genetic disorders and congenital malformations.
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The aim of this narrative review is to review and summarize the etiopathology, prenatal screening and diagnostic tests, prognosis, clinical manifestations in various body systems, and comorbidities associated with DS.
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References

SHOWING 1-10 OF 57 REFERENCES
Balanced information about Down syndrome: What is essential?
TLDR
Balancing clinical information with other aspects of the condition, as well as a better understanding of the information parents consider most important, may enable healthcare professionals to more effectively satisfy families' informational needs following a new diagnosis of Down syndrome.
Prenatal diagnosis of Down syndrome: mothers' reflections on supports needed from diagnosis to birth.
A qualitative study involving 10 mothers who received a prenatal diagnosis of Down syndrome and chose to continue their pregnancy was presented. The time frame considered was diagnosis to delivery.…
Health Supervision for Children With Down Syndrome
These guidelines are designed to assist the pediatrician in caring for the child in whom a diagnosis of Down syndrome has been confirmed by chromosome analysis. Although a pediatrician's initial…
Health Care Guidelines for Individuals with Down Syndrome : 1999 Revision
Introduction Individuals with Down syndrome (DS) need the usual health care screening procedures recommended for the general population. For example, children with DS need the usual immunizations and…
Prenatal diagnosis of Down syndrome: How best to deliver the news
TLDR
It is concluded that physicians can deliver prenatal diagnoses of DS in a sensitive manner that can be appreciated by expectant parents.
Postnatal Diagnosis of Down Syndrome: Synthesis of the Evidence on How Best to Deliver the News
TLDR
By implementing a few cost-neutral measures, physicians can deliver a postnatal diagnosis of DS in a manner that will be deemed by new parents as sensitive and appropriate.
Communicating the postnatal diagnosis of Down ’ s syndrome : an international call for change
  • 2005
Objectives. To analyze the reflections of mothers in the United States and Spain about how they received a postnatal diagnosis of Down’s syndrome (DS) for their children. Methods. An 11-page survey…
Breaking difficult news in a newborn setting: Down syndrome as a paradigm
  • K. Dent, J. Carey
  • Medicine
    American journal of medical genetics. Part C, Seminars in medical genetics
  • 2006
TLDR
A theoretical framework from which the informing interview can be planned and future outcome data can be measured is proposed and can be generalized to breaking difficult news for a variety of other congenital conditions.
Postnatal support for mothers of children with Down syndrome.
TLDR
According to most mothers, physicians did not give adequate amounts of information about Down syndrome and rarely did they give enough printed materials or make referrals to parent support groups.
Primary care for children and adolescents with Down syndrome.
  • M. Davidson
  • Medicine
    Pediatric clinics of North America
  • 2008
This article reviews the general health care guidelines pertaining to pediatric patients with Down syndrome and presents, in a systems-based approach, an update of the current evidence behind these…
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