ArticleScientific reports2021
Identifying the causes of recurrent pregnancy loss in consanguineous couples using whole exome sequencing on the products of miscarriage with no chromosomal abnormalities.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 31 citations in OpenAlex.
- A rhesus macaque model of α-dystroglycanopathy caused by a POMT1 splice altering variant.Animal models and experimental medicine · 2026Article
- Cellular senescence-related gene variants as risk factors for recurrent pregnancy loss.Molecular biology reports · 2026Article
- Effect of preimplantation genetic testing for aneuploidy on pregnancy outcomes of patients with recurrent miscarriage: a retrospective study.BMC pregnancy and childbirth · 2026Article
- A Genetic Landscape of Euploid Miscarriages From Couples With Recurrent Pregnancy Loss Through Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Genomics of pregnancy loss.Journal of assisted reproduction and genetics · 2026Review
- Genetic Variants in Recurrent Euploid Pregnancy Loss.medRxiv : the preprint server for health sciences · 2025Article
- Review
- Exploring Potential Biomarkers in Recurrent Pregnancy Loss: A Literature Review of Omics Studies to Molecular Mechanisms.International journal of molecular sciences · 2025Review
- Whole-Exome Sequencing in Recurrent Pregnancy Loss: Current Evidence and Future Directions in Saudi Arabia.Medical archives (Sarajevo, Bosnia and Herzegovina) · 2025Review
- Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.European journal of human genetics : EJHG · 2024Article
- Miscarriage risk assessment: a bioinformatic approach to identifying candidate lethal genes and variants.Human genetics · 2024Article
- Application of whole exome sequencing in carrier screening for high-risk families without probands.Frontiers in genetics · 2024Article
- The Landscape of Point Mutations in Human Protein Coding Genes Leading to Pregnancy Loss.International journal of molecular sciences · 2023Review
- Essential genes: a cross-species perspective.Mammalian genome : official journal of the International Mammalian Genome Society · 2023Review
- Evaluation of platelet parameters, coagulation markers, antiphospholipid syndrome, and thyroid function in palestinian women with recurrent pregnancy loss.BMC pregnancy and childbirth · 2023Article
- Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population.Frontiers in genetics · 2023Article
- Assessment of Perceptions and Predictors Towards Consanguinity: A Cross-Sectional Study from Palestine.Journal of multidisciplinary healthcare · 2023Article
- Brugada Syndrome: Warning of a Systemic Condition?Frontiers in cardiovascular medicine · 2021Review
- Changes in the level of fetoplacental complex hormones in pregnant women with miscarriage.Journal of medicine and lifeArticle
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Recurrent miscarriages occur in about 5% of couples trying to conceive. In the past decade, the products of miscarriage have been studied using array comparative genomic hybridization (a-CGH). Within the last decade, an association has been proposed between miscarriages and single or multigenic changes, introducing the possibility of detecting other underlying genetic factors by whole exome sequencing (WES). We performed a-CGH on the products of miscarriage from 1625 Iranian women in consanguineous or non-consanguineous marriages. WES was carried out on DNA extracted from the products of miscarriage from 20 Iranian women in consanguineous marriages and with earlier normal genetic testing. Using a-CGH, a statistically significant difference was detected between the frequency of imbalances in related vs. unrelated couples (P < 0.001). WES positively identified relevant alterations in 11 genes in 65% of cases. In 45% of cases, we were able to classify these variants as pathogenic or likely pathogenic, according to the American College of Medical Genetics and Genomics guidelines, while in the remainder, the variants were classified as of unknown significance. To the best of our knowledge, our study is the first to employ WES on the products of miscarriage in consanguineous families with recurrent miscarriages regardless of the presence of fetal abnormalities. We propose that WES can be helpful in making a diagnosis of lethal disorders in consanguineous couples after prior genetic testing.
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