ArticleEuropean journal of human genetics : EJHG2014
A national perspective on prenatal testing for mitochondrial disease.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis 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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 59 citations in OpenAlex.
- Current Genetic Service Delivery Models for the Provision of Genetic Testing in Europe: A Systematic Review of the Literature.Frontiers in genetics · 2019Pooled it
- Current state of the art in the transmission of mitochondrial DNA pathogenic variants: reviewing preventive-therapeutic alternatives.Journal of assisted reproduction and genetics · 2026Review
- Mitochondrial cardiomyopathy: bridging molecular mechanisms and clinical frontiers.Nature reviews. Cardiology · 2026Review
- A clinical approach to diagnosis and management of mitochondrial myopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024Review
- Neonatal Hemochromatosis: Systematic Review of Prenatal Ultrasound Findings-Is There a Place for MRI in the Diagnostic Process?Journal of clinical medicine · 2023Review
- Genetic testing for mitochondrial disease: the United Kingdom best practice guidelines.European journal of human genetics : EJHG · 2023Article
- Endocrine Manifestations and New Developments in Mitochondrial Disease.Endocrine reviews · 2022Article
- Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.Prenatal diagnosis · 2022Review
- Novel and recurrent nuclear gene variations in a cohort of Chinese progressive external ophthalmoplegia patients with multiple mtDNA deletions.Molecular genetics & genomic medicine · 2022Article
- Revealing the Impact of Mitochondrial Fitness During Early Neural Development Using Human Brain Organoids.Frontiers in molecular neuroscience · 2022Review
- A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Current and Emerging Clinical Treatment in Mitochondrial Disease.Molecular diagnosis & therapy · 2021Review
- Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan.Scientific reports · 2021Article
- Two Cases of Leigh Syndrome in One Family: Diagnostic Challenges and Clinical Management Experience in Latvia.Case reports in medicine · 2021Article
- Molecular basis of Leigh syndrome: a current look.Orphanet journal of rare diseases · 2020Review
- Recent topics: the diagnosis, molecular genesis, and treatment of mitochondrial diseases.Journal of human genetics · 2019Review
- Tri-parent Baby Technology and Preservation of Lineage: An Analysis from the Perspective of Maqasid al-Shari'ah Based Islamic Bioethics.Science and engineering ethics · 2019Article
- Diagnosis and Treatment of Mitochondrial Myopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Advances in methods for reducing mitochondrial DNA disease by replacing or manipulating the mitochondrial genome.Essays in biochemistry · 2018Review
- Genetic Counselling for Maternally Inherited Mitochondrial Disorders.Molecular diagnosis & therapy · 2017Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
Mitochondrial diseases affect >1 in 7500 live births and may be due to mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). Genetic counselling for families with mitochondrial diseases, especially those due to mtDNA mutations, provides unique and difficult challenges particularly in relation to disease transmission and prevention. We have experienced an increasing demand for prenatal diagnostic testing from families affected by mitochondrial disease since we first offered this service in 2007. We review the diagnostic records of the 62 prenatal samples (17 mtDNA and 45 nDNA) analysed since 2007, the reasons for testing, mutation investigated and the clinical outcome. Our findings indicate that prenatal testing for mitochondrial disease is reliable and informative for the nuclear and selected mtDNA mutations we have tested. Where available, the results of mtDNA heteroplasmy analyses from other family members are helpful in interpreting the prenatal mtDNA test result. This is particularly important when the mutation is rare or the mtDNA heteroplasmy is observed at intermediate levels. At least 11 cases of mitochondrial disease were prevented following prenatal testing, 3 of which were mtDNA disease. On the basis of our results, we believe that prenatal testing for mitochondrial disease is an important option for couples where appropriate genetic analyses and pre/post-test counselling can be provided.
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.