ArticleGenetics in medicine : official journal of the American College of Medical Genetics2017
Informed decision making and psychosocial outcomes in pregnant and nonpregnant women offered population fragile X carrier screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 1 of them a synthesis that pooled it.
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Who cites it
16 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Carrier Screening Programs for Cystic Fibrosis, Fragile X Syndrome, Hemoglobinopathies and Thalassemia, and Spinal Muscular Atrophy: A Health Technology Assessment.Ontario health technology assessment series · 2023Pooled it
- Patients offered genomic testing for rare disease and cancer: a real-world evaluation of impact and processes of care.European journal of human genetics : EJHG · 2026Article
- Scoping review and recommendations for development and delivery of education resources for reproductive genetic carrier screening.European journal of human genetics : EJHG · 2026Review
- Article
- Evaluation of face validity and core concepts of a novel knowledge scale for inherited heart disease: A pilot study.Journal of genetic counseling · 2025Article
- Review
- Maternal FMR1 alleles expansion in newborns during transmission: a prospective cohort study.Pediatric research · 2023Article
- The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission): Design and Implementation.Journal of personalized medicine · 2022Article
- Fragile X premutation carrier screening in Pakistani preconception women in primary care consultation.BMC women's health · 2022Article
- Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes.Journal of genetic counseling · 2021Article
- Attitudes toward population screening among people living with fragile X syndrome in the UK: 'I wouldn't wish him away, I'd just wish his fragile X syndrome away'.Journal of genetic counseling · 2021Article
- Patient characteristics, experiences and perceived value of pharmacogenetic testing from a single testing laboratory.Pharmacogenomics · 2019Article
- Fragile X population carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Response to Metcalfe et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Should we implement population screening for fragile X?Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
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Authors and funding
37 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposePopulation-based carrier screening for fragile X syndrome (FXS) is still not universally endorsed by professional organizations due to concerns around genetic counseling for complex information and potential for psychosocial harms.MethodsWe determined uptake levels, decision making, and psychosocial impact in a prospective study of pregnant and nonpregnant Australian women offered FXS carrier screening in clinical settings. Women received pretest genetic counseling, and completed questionnaires when deciding and one month later.ResultsOf 1,156 women recruited, 83.1% returned the first questionnaire with 70.6% nonpregnant and 58.8% pregnant women choosing testing (χ
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