ArticleJournal of genetic counseling2005
Women's attitudes toward testing for fragile X carrier status: a qualitative analysis.
Article 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 27 papers, 4 of them syntheses that pooled it.
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
27 citing papers in PubMed, 4 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2018Pooled it
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2015Pooled it
- Genetic counseling for fragile x syndrome: updated recommendations of the national society of genetic counselors.Journal of genetic counseling · 2005Guideline
- The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).Journal of assisted reproduction and genetics · 2023Article
- "I didn't take it too seriously because I'd just never heard of it": Experiential knowledge and genetic screening for thalassaemia in the UK.Journal of genetic counseling · 2019Article
- Voice of People with Fragile X Syndrome and Their Families: Reports from a Survey on Treatment Priorities.Brain sciences · 2019Article
- Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Harms of Deception in FMR1 Premutation Genotype-Driven Recruitment.The American journal of bioethics : AJOB · 2017Article
- "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.Journal of community genetics · 2016Article
- Psychosocial Responses to being Identified as a Balanced Chromosomal Translocation Carrier: a Qualitative Investigation of Parents in Japan.Journal of genetic counseling · 2015Article
- Advanced technologies for the molecular diagnosis of fragile X syndrome.Expert review of molecular diagnostics · 2015Review
- Attitudes towards potentially carrying the FMR1 premutation: before vs after testing of non-carrier females with diminished ovarian reserve.Journal of genetic counseling · 2014Article
- 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
- 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
- Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.European journal of human genetics : EJHG · 2012Article
- Carrier screening in preconception consultation in primary care.Journal of community genetics · 2012Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Fragile X syndrome (FXS) is primarily due to a repeat expansion mutation found in the FMR1 X-linked gene. We have conducted a qualitative analysis of responses from women concerning their attitudes toward testing for carrier status of the fragile X mutation among reproductive-age women. We obtained responses from focus groups including women with and without FXS in their families. We found the following themes: (1) mothers of children with FXS have difficulty formulating their opinions on population screening because of their unique experiences surrounding their own carrier diagnosis and their relationship with their children with FXS, (2) the motivation for carrier testing and need for information differ by family history of FXS and parental status, and (3) the timing of carrier testing with respect to a woman's life stage dictates whether carrier information will be viewed as beneficial or detrimental. There was evidence that non-carrier women from the general population would be wholly unprepared for positive carrier results. These findings have significant implications for genetic counseling as well as for population screening.
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What 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.