ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 45 papers, 4 of them syntheses that pooled it.
What it found
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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
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.
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Who cites it
45 citing papers in PubMed, 4 syntheses or guidelines pooled it, 121 citations in OpenAlex.
- 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
- Preconception risk assessment for thalassaemia, sickle cell disease, cystic fibrosis and Tay-Sachs disease.The Cochrane database of systematic reviews · 2021Pooled it
- Health practitioners' perceptions of the barriers and enablers to the implementation of reproductive genetic carrier screening: A systematic review.Prenatal diagnosis · 2021Pooled it
- Prenatal genetic testing for cystic fibrosis: a systematic review of clinical effectiveness and an ethics review.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Pooled it
- Developing general practitioner and consumer supports for genomics in Australian primary care: a mixed-methods protocol.BMJ open · 2026Article
- "We've done our due diligence": Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition.European journal of human genetics : EJHG · 2026Article
- From screening to strategy: Clinical implications of COL4A3/COL4A4 variants found in reproductive genetic testing.European journal of human genetics : EJHG · 2026Article
- Revising the reproductive story: psychosocial and reproductive impacts 12 months after reproductive genetic carrier screening.European journal of human genetics : EJHG · 2025Article
- Article
- Carrier Screening and Prenatal Diagnosis for Spinal Muscular Atrophy in Ningde City, Fujian Province.Molecular genetics & genomic medicine · 2025Article
- Adopting Public Health Genomics when the House Is on Fire: How Will We Navigate to 2030?Public health genomics · 2025Article
- Prevalence and implications of fragile X premutation screening in Thailand.Scientific reports · 2024Article
- Attitudes of medical professionals toward fragile X carrier screening and genetic counseling in China.Journal of community genetics · 2024Article
- Analysis of spinal muscular atrophy carrier screening results in 32,416 pregnant women and 7,231 prepregnant women.Frontiers in neurology · 2024Article
- Preconception or prenatal acceptance of SMN1 gene carrier screening and carrier rate of spinal muscular atrophy: a retrospective study in 18,818 reproductive age women in Wuhan area of China.Journal of assisted reproduction and genetics · 2024Article
- Using a theory informed approach to design, execute, and evaluate implementation strategies to support offering reproductive genetic carrier screening in Australia.BMC health services research · 2023Article
- Review
- Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform.Human genome variation · 2023Article
- Sex Difference in Spinal Muscular Atrophy Patients - are Males More Vulnerable?Journal of neuromuscular diseases · 2023Article
- Cost-effectiveness analysis of gene-based therapies for patients with spinal muscular atrophy type I in Australia.Journal of neurology · 2022Article
Corrections and comments
- Erratum issued
Authors and funding
23 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history. At least 94% of CF and SMA carriers' partners were tested. Fifty couples (0.42%; 1 in 240) were at increased risk of having a child with one of the conditions (14 CF, 35 FXS, and 1 SMA) with 32 pregnant at the time of testing. Of these, 26 opted for prenatal diagnosis revealing 7 pregnancies affected (4 CF, 2 FXS, 1 SMA).ConclusionThe combined affected pregnancy rate is comparable to the population risk for Down syndrome, emphasizing the need to routinely offer carrier screening. The availability of appropriate genetic counseling support and a collaborative approach between laboratory teams, genetics services, health professionals offering screening, and support organizations is essential.
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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.