GuidelineJournal of genetic counseling2005
Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.
Guideline in Journal of genetic counseling, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed.
- Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.European journal of human genetics : EJHG · 2016Trial
- Article
- Unleashing the potential of mRNA therapeutics for inherited neurological diseases.Brain : a journal of neurology · 2024Review
- Identity and Reproductive Aspects in Females with Fragile X Syndrome.Women's health reports (New Rochelle, N.Y.) · 2021Article
- Molecular Characterization of FMR1 Gene by TP-PCR in Women of Reproductive Age and Women with Premature Ovarian Insufficiency.Molecular diagnosis & therapy · 2018Article
- Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.Frontiers in molecular neuroscience · 2017Review
- The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.Journal of genetic counseling · 2016Review
- EMQN best practice guidelines for the molecular genetic testing and reporting of fragile X syndrome and other fragile X-associated disorders.European journal of human genetics : EJHG · 2015Article
- Development of a fragile X syndrome (FXS) knowledge scale: towards a modified multidimensional measure of informed choice for FXS population carrier screening.Health expectations : an international journal of public participation in health care and health policy · 2015Article
- Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka.PloS one · 2015Article
- Longitudinal interviews of couples diagnosed with diminished ovarian reserve undergoing fragile X premutation testing.Journal of genetic counseling · 2014Article
- The FMR1 gene, infertility, and reproductive decision-making: a review.Frontiers in genetics · 2014Review
- Molecular testing for fragile X: analysis of 5062 tests from 1105 fragile X families--performed in 12 clinical laboratories in Spain.BioMed research international · 2014Article
- Attitude of medical school students in China towards genetic testing and counseling issues in FXS.Journal of genetic counseling · 2013Article
- Article
- Newborn screening and cascade testing for FMR1 mutations.American journal of medical genetics. Part A · 2013Article
- A new approach to primary ovarian insufficiency.Obstetrics and gynecology clinics of North America · 2012Review
- Underutilization of genetics services for autism: the importance of parental awareness and provider recommendation.Journal of genetic counseling · 2012Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
- Fragile X-associated disorders: a clinical overview.Journal of neurology · 2012Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
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.
Indexed as
Identifiers
16047089What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.