ArticlePloS one2019
Identification of putative pathogenic single nucleotide variants (SNVs) in genes associated with heart disease in 290 cases of stillbirth.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Whole Genome Sequencing in Prenatal Diagnostics: The Danish Approach to Guideline Formation and Implementation Within Public Healthcare.Prenatal diagnosis · 2026Article
- Genetics and Stillbirth.Clinics in perinatology · 2026Review
- A model for the human fetal ventricular myocyte electrophysiology.PLoS computational biology · 2026Article
- Genetic Variants in Recurrent Euploid Pregnancy Loss.medRxiv : the preprint server for health sciences · 2025Article
- A Pilot Study of Ultrasound Assessment of Umbilical Cord and Placental Vascular Flow for Cord Accident Stillbirth Prevention.Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine · 2024Article
- Structure, Function, and Regulation of the Junctophilin Family.Annual review of physiology · 2024Review
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Article
- HomozygousGenes · 2023Review
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- The role of BAG3 in health and disease: A "Magic BAG of Tricks".Journal of cellular biochemistry · 2022Review
- Molecular autopsy by proxy in preconception counseling.Clinical genetics · 2021Article
- Recurrent Pregnancy Loss and Concealed Long-QT Syndrome.Journal of the American Heart Association · 2021Article
- Cardio-pathogenic variants in unexplained intrauterine fetal death: a retrospective pilot study.Scientific reports · 2021Article
- Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Causal Genetic Variants in Stillbirth.The New England journal of medicine · 2020Article
- Article
- Genetic innovations and our understanding of stillbirth.Human genetics · 2020Review
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
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Authors and funding
10 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The incidence of stillbirth in Sweden has essentially remained constant since the 1980's, and despite thorough investigation, many cases remain unexplained. It has been suggested that a proportion of stillbirth cases is caused by heart disease, mainly channelopathies. The aim of this study was to analyze DNA from 290 stillbirth cases without chromosomal abnormalities for pathogenic single nucleotide variants (SNVs) in 70 genes associated with cardiac channelopathies and cardiomyopathies. The HaloPlex Target Enrichment System (Agilent Technologies) was utilized to prepare sequencing libraries which were sequenced on the Illumina NextSeq platform. We found that 12.1% of the 290 investigated stillbirth cases had one (n = 31) or two (n = 4) variants with evidence supporting pathogenicity, i.e. loss-of-function variants (nonsense, frameshift, splice site substitutions), evidence from functional studies, or previous identification of the variants in affected individuals. Regarding identified putative pathogenic variants in genes associated with channelopathies, the prevalence was significantly higher in the stillbirth cohort (n = 23, 7.93%) than the corresponding prevalence of the same variants in the non-Finnish European population of the Exome Aggregation Consortium (2.70%, p<0.001) and SweGen, (2.30%, p<0.001). Our results give further support to the hypothesis that cardiac channelopathies might contribute to stillbirth. Screening for pathogenic SNVs in genes associated with heart disease might be a valuable complement for stillbirth cases where today's conventional investigation does not reveal the underlying cause of fetal demise.
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