Journal of Genetic Counseling

, Volume 14, Issue 4, pp 249–270

Genetic Counseling for Fragile X Syndrome: Updated Recommendations of the National Society of Genetic Counselors

  • Allyn McConkie-Rosell
  • Brenda Finucane
  • Amy Cronister
  • Liane Abrams
  • Robin L. Bennett
  • Barbara J. Pettersen
Professional Issues

Abstract

These recommendations describe the minimum standard criteria for genetic counseling and testing of individuals and families with fragile X syndrome, as well as carriers and potential carriers of a fragile X mutation. The original guidelines (published in 2000) have been revised, replacing a stratified pre- and full mutation model of fragile X syndrome with one based on a continuum of gene effects across the full spectrum of FMR1 CGG trinucleotide repeat expansion. This document reviews the molecular genetics of fragile X syndrome, clinical phenotype (including the spectrum of premature ovarian failure and fragile X-associated tremor-ataxia syndrome), indications for genetic testing and interpretation of results, risks of transmission, family planning options, psychosocial issues, and references for professional and patient resources. These recommendations are the opinions of a multicenter working group of genetic counselors with expertise in fragile X syndrome genetic counseling, and they are based on clinical experience, review of pertinent English language articles, and reports of expert committees. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

Keywords

fragile X syndrome genetic counseling genetic testing premature ovarian failure FXTAS premutation FMR1 prenatal diagnosis National Society of Genetic Counselors practice guidelines 

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Copyright information

© Springer Science + Business Media, Inc. 2005

Authors and Affiliations

  • Allyn McConkie-Rosell
    • 1
    • 7
  • Brenda Finucane
    • 2
  • Amy Cronister
    • 3
  • Liane Abrams
    • 4
  • Robin L. Bennett
    • 5
  • Barbara J. Pettersen
    • 6
  1. 1.Duke University Medical CenterDurham
  2. 2.Elwyn Training and Research InstituteElwyn
  3. 3.Genzyme GeneticsPhoenix
  4. 4.Liane Abrams: National Fragile X FoundationSan Francisco
  5. 5.Medical Genetics, Department of MedicineUniversity of WashingtonSeattle
  6. 6.Genetic Counseling of Central OregonBend
  7. 7.Division of Medical GeneticsDuke University Medical CenterDurham

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