ArticleGenetics in medicine : official journal of the American College of Medical Genetics2012
Caregiver opinions about fragile X population screening.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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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
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Preferences, attitudes and views regarding genetic newborn screening (gNBS) for rare diseases: a systematic review of the literature and synthesis from 2009 to 2022.Orphanet journal of rare diseases · 2026Pooled 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
- Article
- Review
- Pre-symptomatic intervention for autism spectrum disorder (ASD): defining a research agenda.Journal of neurodevelopmental disorders · 2021Review
- Implementation of fragile X syndrome carrier screening during prenatal diagnosis: A pilot study at a single center.Molecular genetics & genomic medicine · 2021Article
- Article
- 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
- Early Identification of Fragile X Syndrome through Expanded Newborn Screening.Brain sciences · 2019Review
- Should we implement population screening for fragile X?Genetics in medicine : official journal of the American College of Medical Genetics · 2017Article
- Parents' Attitudes toward Clinical Genetic Testing for Autism Spectrum Disorder-Data from a Norwegian Sample.International journal of molecular sciences · 2017Article
- Molecular Correlates and Recent Advancements in the Diagnosis and Screening of FMR1-Related Disorders.Genes · 2016Review
- Family Communication and Cascade Testing for Fragile X Syndrome.Journal of genetic counseling · 2016Article
- Parental intentions to enroll children in a voluntary expanded newborn screening program.Social science & medicine (1982) · 2016Article
- Identification of a male with fragile X syndrome through newborn screening.Intractable & rare diseases research · 2015Article
- Article
- Design and evaluation of a decision aid for inviting parents to participate in a fragile X newborn screening pilot study.Journal of genetic counseling · 2013Article
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
purposeWe sought to determine caregiver perceptions about population screening for fragile X and to examine factors potentially associated with support for screening.
methodsWe asked 1,099 caregivers of a child with fragile X syndrome or a fragile X carrier to rate whether free, voluntary screening should be offered preconception, prenatally, neonatally, or when problems occur. Caregivers chose a preferred time for screening, reported whether screening would affect parent-child bonding, indicated preferences for carrier detection, and gave reasons for their choices.
resultsCaregivers endorsed all forms of screening, but prenatal screening was less strongly endorsed than preconception or postnatal screening. Most (79%) preferred preconception carrier testing, allowing more options when making reproductive decisions. Most thought that screening should also disclose carrier status and believed a positive screen would not negatively affect parent-child bonding. Maternal education, caregiver depression, family impact, and severity of disability were not associated with screening opinions, but parents who only had carrier children were less likely to endorse prenatal screening.
conclusionCaregivers of children with fragile X widely endorse screening. However, because different parents will make different choices, screening may need to be offered at multiple times with careful consideration of consent and informed decision-making.
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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.