ArticleBMJ (Clinical research ed.)2000
Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry.
Article in BMJ (Clinical research ed.), 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 116 citations in OpenAlex.
- Impact on informed choice of offering antenatal sickle cell and thalassaemia screening in primary care: a randomized trial.Journal of medical screening · 2011Trial
- Effectiveness of earlier antenatal screening for sickle cell disease and thalassaemia in primary care: cluster randomised trial.BMJ (Clinical research ed.) · 2010Trial
- Public awareness, knowledge and attitudes toward thalassemia and its screening in five high-prevalence countries: a cross-sectional study based on an online survey.BMC public health · 2026Article
- Spontaneous rupture of the spleen at full term during pregnancy: a case report.The Journal of international medical research · 2023Review
- Adolescents' experiences and views of the national school-based thalassaemia screening programme in Malaysia: a qualitative study.Journal of community genetics · 2023Article
- Recommendations for neonatologists and pediatricians working in first level birthing centers on the first communication of genetic disease and malformation syndrome diagnosis: consensus issued by 6 Italian scientific societies and 4 parents' associations.Italian journal of pediatrics · 2021Article
- Inclusion of diverse populations in genomic research and health services: Genomix workshop report.Journal of community genetics · 2017Article
- Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Frontiers in pediatrics · 2017Review
- Acceptability of prenatal testing and termination of pregnancy in Pakistan.Journal of community genetics · 2015Article
- The impact of migrations on the health services for rare diseases in Europe: the example of haemoglobin disorders.TheScientificWorldJournal · 2013Article
- Prenatal Diagnosis of Different Polymorphisms of β-globin Gene in Ahvaz.International journal of hematology-oncology and stem cell research · 2013Article
- Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective.Journal of community genetics · 2013Article
- At-risk marriages after compulsory premarital testing and counseling for β-thalassemia and sickle cell disease in Saudi Arabia, 2005-2006.Journal of genetic counseling · 2012Article
- Falling prevalence of beta-thalassaemia and eradication of malaria in the Maldives.Journal of community genetics · 2011Article
- Risk and reproductive decisions: British Pakistani couples' responses to genetic counselling.Social science & medicine (1982) · 2011Article
- Confidence of primary care physicians in their ability to carry out basic medical genetic tasks-a European survey in five countries-Part 1.Journal of community genetics · 2011Article
- Screening for beta thalassaemia.Indian journal of human genetics · 2010Article
- "What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.Journal of genetic counseling · 2008Article
- Genetic Services in the Sultanate of Oman and other Gulf Countries: Progress is needed now!Sultan Qaboos University medical journal · 2008Article
- Global epidemiology of haemoglobin disorders and derived service indicators.Bulletin of the World Health Organization · 2008Article
Corrections and comments
- Commented on by
- Commented on by
Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
objectiveNational audit of informed choice in antenatal screening for thalassaemia.
designAudit from the UK Confidential Enquiry into Counselling for Genetic Disorders.
settingThalassaemia module of the UK Confidential Enquiry into Counselling for Genetic Disorders. SUBJECTS: 138 of 156 couples who had had a pregnancy affected by a major beta thalassaemia from 1990 to 1994.
main outcome measuresHow and when genetic risk was identified for each couple, and whether and when prenatal diagnosis was offered.
resultsRisk was detected by screening before or during the first pregnancy in 49% (68/138) of couples and by diagnosis of an affected child in 28% (38/138) of couples. Prenatal diagnosis was offered in 69% (274/400) of pregnancies, ranging from 94% (122/130) for British Cypriots to 54% (80/149) for British Pakistanis and from 90% in the south east of England to 39% in the West Midlands. Uptake of prenatal diagnosis was 80% (216/274), ranging from 98% (117/120) among British Cypriots in either the first or second trimester to 73% (35/48) among British Pakistanis in the first trimester and 39% (11/28) in the second trimester. A demonstrable service failure occurred in 28% (110/400) of pregnancies, including 110 of 126 where prenatal diagnosis was not offered and 48 of 93 that ended with an affected liveborn infant.
conclusionAlthough antenatal screening and counselling for haemoglobin disorders are standard practices in the United Kingdom, they are delivered inadequately and inequitably. An explicit national policy is needed, aiming to make prenatal diagnosis in the first trimester available to all couples and including ongoing national audit.
Indexed as
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.