文献_Counsel-2012-Genetic Counseling and Testing for FMR1 Gene Mutations Practice Guidelines of the National Society of Genetic Counselors.pdf

J Genet Counsel DOI 10.1007/s10897-012-9524-8 PROFESSIONAL ISSUES Genetic Counseling and Testing for FMR1 Gene Mutations: Practice Guidelines of the National Society of Genetic Counselors Brenda Finucane Liane Abrams Amy Cronister Alison D. Archibald Robin L. Bennett Allyn McConkie-Rosell Received: 18 April 2012 /Accepted: 22 June 2012 # National Society of Genetic Counselors, Inc. 2012 Abstract Fragile X syndrome (FXS) is one of several clin- has increased; and several aspects of genetic counseling ical disorders associated with mutations in the X-linked for FMR1 mutations remain challenging, including risk L Fragile X Mental Retardation-1 (FMR1) gene. With evolv- assessment for intermediate alleles and the widely vari- ing knowledge about the phenotypic consequences of FMR1 able clinical prognosis for females with full mutations. A transcription and translation, sharp clinical distinctions FMR1 mutation testing is increasingly being offered to between pre- and full mutations have become more women without known risk factors, and newborn V fluid. The complexity of the issues surrounding genetic screening for FXS is underway in research-based pilot testing and management of FMR1-associated disorders studies. Each diagnosis of an FMR1 mutation has far- reaching clinical and reproductive implications for the O extended family. The interest in large-scale population