ArticleJournal of community genetics2012
Carrier screening in preconception consultation in primary care.
Article in Journal of community genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 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
24 citing papers in PubMed, 47 citations in OpenAlex.
- Understanding Genetic Screening: Harnessing Health Information to Prevent Disease Risks.International journal of medical sciences · 2025Review
- Primary care professionals' views on population-based expanded carrier screening: an online focus group study.Family practice · 2024Article
- The more you do it, the easier it gets: using behaviour change theory to support health care professionals offering reproductive genetic carrier screening.European journal of human genetics : EJHG · 2023Article
- A Novel Compound Heterozygous Mutation in the DNAH11 Gene Found in Neonatal Twins With Primary Ciliary Dyskinesis.Frontiers in genetics · 2022Article
- Survey on patients' organisations' knowledge and position paper on screening for inherited neuromuscular diseases in Europe.Orphanet journal of rare diseases · 2021Article
- Comparing ethnicity-based and expanded carrier screening methods at a single fertility center reveals significant differences in carrier rates and carrier couple rates.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Feasibility of couple-based expanded carrier screening offered by general practitioners.European journal of human genetics : EJHG · 2019Article
- Awareness and Use of Folic Acid among Women of Childbearing Age.Annals of global health · 2019Article
- Deciding on cystic fibrosis carrier screening: three citizens' juries and an online survey.European journal of public health · 2018Article
- A systematic analysis of online marketing materials used by providers of expanded carrier screening.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Article
- Preconception carrier screening for multiple disorders: evaluation of a screening offer in a Dutch founder population.European journal of human genetics : EJHG · 2018Article
- Pre- and post-testing counseling considerations for the provision of expanded carrier screening: exploration of European geneticists' views.BMC medical ethics · 2017Article
- The measurement of patient attitudes regarding prenatal and preconception genetic carrier screening and translational behavioral medicine: an integrative review.Translational behavioral medicine · 2017Review
- A Pilot Study of Fragile X Syndrome Screening in Pregnant Women and Women Planning Pregnancy: Implementation, Acceptance, Awareness, and Geographic Factors.Journal of genetic counseling · 2017Article
- Family Communication and Cascade Testing for Fragile X Syndrome.Journal of genetic counseling · 2016Article
- Responsible implementation of expanded carrier screening.European journal of human genetics : EJHG · 2016Article
- "It gives them more options": preferences for preconception genetic carrier screening for fragile X syndrome in primary healthcare.Journal of community genetics · 2016Article
- Evaluation of two-year Jewish genetic disease screening program in Atlanta: insight into community genetic screening approaches.Journal of community genetics · 2015Article
- How people in Benin assess a couple's risk of having a baby with sickle cell disease.Journal of community genetics · 2015Article
- Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature.Journal of community genetics · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Discussing carrier screening during preconception consultation in primary care has a number of advantages in terms of promoting autonomy and enabling the greatest range of reproductive choices. For those with a family history of an inherited condition, this ought to be a routine discussion; however, this can be expanded to include the wider population, especially for those conditions for which carrier frequencies are considered relatively common. There is published literature from around the world regarding experiences with carrier screening in primary care for cystic fibrosis, haemoglobinopathies, fragile X syndrome, Tay-Sachs disease and spinal muscular atrophy, although many of these have tended to focus on consultations during rather than before pregnancy. Overall, these studies reveal that population carrier screening is well received by the participants with apparent minimal psychosocial harms; however, challenges exist in terms of approaches to ensure couples receive adequate information to make personally relevant decisions and for ongoing health professional engagement.
Identifiers
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.