ArticleAmerican journal of human genetics1996
Cystic fibrosis heterozygote screening in 5,161 pregnant women.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers, 3 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
17 citing papers in PubMed, 3 syntheses or guidelines pooled it, 92 citations in OpenAlex.
- Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review.Journal of genetic counseling · 2023Pooled it
- Best practice guidelines for molecular genetic diagnosis of cystic fibrosis and CFTR-related disorders--updated European recommendations.European journal of human genetics : EJHG · 2009Guideline
- Cystic fibrosis prenatal screening in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2005Guideline
- Development and use of the Australian reproductive genetic carrier screening decision aid.European journal of human genetics : EJHG · 2022Article
- Intragenic CFTR Duplication and 5T/12TG Variant in a Patient with Non-Classic Cystic Fibrosis.Scientific reports · 2016Article
- Attitudes of cystic fibrosis patients and parents toward carrier screening and related reproductive issues.European journal of human genetics : EJHG · 2016Article
- Attitudes of health care professionals toward carrier screening for cystic fibrosis. A review of the literature.Journal of community genetics · 2014Article
- The changing landscape of carrier screening: expanding technology and options?.Health matrix (Cleveland, Ohio : 1991) · 2013Article
- A targeted population carrier screening program for severe and frequent genetic diseases in Israel.European journal of human genetics : EJHG · 2009Article
- Clinical practice and genetic counseling for cystic fibrosis and CFTR-related disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2008Review
- Nocturnal hydration--an effective modality to reduce recurrent abdominal pain and recurrent pancreatitis in patients with adult-onset cystic fibrosis.Digestive diseases and sciences · 2006Article
- Cystic fibrosis lung disease: genetic influences, microbial interactions, and radiological assessment.Pediatric radiology · 2005Review
- Genetic counselling after carrier detection by newborn screening when one parent carries DeltaF508 and the other R117H.Archives of disease in childhood · 2003Article
- Threat to Parental Role: A Possible Mechanism of Altered Self-Concept Related to Carrier Knowledge.Journal of genetic counseling · 2000Article
- Attitudes toward cystic fibrosis carrier and prenatal testing and utilization of carrier testing among relatives of individuals with cystic fibrosis.Journal of genetic counseling · 1999Article
- Costs, effects, and savings of screening for cystic fibrosis gene carriers.Journal of epidemiology and community health · 1998Article
- PCR-based screening for cystic fibrosis carrier mutations in an ethnically diverse pregnant population.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A screening program for cystic fibrosis (CF) heterozygotes was conducted in a large HMO prenatal population, to evaluate the level of interest among eligible patients, the effectiveness of prescreening education, attitudes toward the screening process, psychological effects, and utilization of prenatal diagnosis and its outcomes. The heterozygote identification rate and frequency of specific CFTR mutations were also assessed. Identified carriers were offered genetic counseling and testing of male partners. Prenatal diagnosis was offered if both parents were identified as carriers. A total of 5,161 women underwent carrier testing; 947 others completed survey instruments only. The acceptance rate of screening was high (78%), and pretest education by videotape was generally effective. Adverse psychological effects were not reported. Participants generally found screening to be desirable and useful. Screening identified 142 female heterozygotes, 109 couples in which the male partner was not a carrier, and 7 high-risk couples. The incidence of R117H mutations was much higher than expected. The number of identified carriers was much lower in Hispanics than in Caucasians. We conclude that large-scale prenatal screening for CF heterozygotes in the absence of a family history of CF is an acceptable method for identifying couples at risk for affected fetuses. Sufficient pretest education can be accomplished efficiently, test insensitivity is well accepted, adverse psychological events are not observed, and general patient satisfaction is high.
Indexed as
Identifiers
8644747PMC1914676W2140972586What 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.