ArticlePrenatal diagnosis2021
Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.
Article in Prenatal diagnosis, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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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.
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Who cites it
32 citing papers in PubMed.
- Diagnostic evaluation and clinical utility of C-MoKa for prenatal genetic testing.Journal of translational medicine · 2026Article
- Prenatal diagnosis of congenital diaphragmatic hernia with mosaicism of chromosomes 17q and 18q in Iran: a case report.Journal of medical case reports · 2026Article
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- Influencing factors and clinical significance of mosaic embryos in preimplantation genetic testing.Journal of assisted reproduction and genetics · 2026Article
- A qualitative study of parents' experiences with receiving a prenatal diagnosis of confined placental mosaicism - "We had nothing to rely on, you know?"Journal of genetic counseling · 2026Article
- Studies of post-partum placentas provide insights into the origin of structural chromosomal aberrations.Human reproduction (Oxford, England) · 2026Article
- A Rare Finding of Mosaic 45,XX,der(13;21)(q10;q10)[15]/46,XX,r(13)(p11.2q33) Following Abnormal Prenatal Chromosomal Microarray Testing.Case reports in genetics · 2026Article
- Clinical Insights Regarding the Targeted Chromosomal Region for Mosaicism and Aneuploidy in Embryos in IVF Treatment and Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Application of Digital Polymerase Chain Reaction (dPCR) in Non-Invasive Prenatal Testing (NIPT).Biomolecules · 2025Review
- Parental and cell-division origin analysis to reduce false-positives in mosaic embryos for preimplantation genetic testing.Human reproduction open · 2025Article
- Benign mosaic chromosomal structural variants across generations: evidence for a developmental correction mechanism from clinical and computational models.Frontiers in genetics · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Human embryos harbor complex mosaicism with broad presence of aneuploid cells during early development.Cell discovery · 2024Article
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Current Applications and Controversies in Preimplantation Genetic Testing for Aneuploidies (PGT-A) in In Vitro Fertilization.Reproductive sciences (Thousand Oaks, Calif.) · 2024Review
- [Value of non-invasive prenatal testing for rare autosomal trisomies in fetuses].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2023Article
- Prenatal diagnosis of mosaic chromosomal aneuploidy and uniparental disomy and clinical outcomes evaluation of four fetuses.Molecular cytogenetics · 2023Article
- Characteristics and mechanisms of mosaicism in prenatal diagnosis cases by application of SNP array.Molecular cytogenetics · 2023Article
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Corrections and comments
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Authors and funding
4 authors.
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Abstract
The diagnosis of chromosomal mosaicism in the preimplantation and prenatal stage is fraught with uncertainty and multiple factors need to be considered in order to gauge the likely impact. The clinical effects of chromosomal mosaicism are directly linked to the type of the imbalance (size, gene content, and copy number), the timing of the initial event leading to mosaicism during embryogenesis/fetal development, the distribution of the abnormal cells throughout the various tissues within the body as well as the ratio of normal/abnormal cells within each of those tissues. Additional factors such as assay noise and culture artifacts also have an impact on the significance and management of mosaic cases. Genetic counseling is an important part of educating patients about the likelihood of having a liveborn with a chromosome abnormality and these risks differ according to the time of ascertainment and the tissue where the mosaic cells were initially discovered. Each situation needs to be assessed on a case-by-case basis and counseled accordingly. This review will discuss the clinical impact of finding mosaicism through: embryo biopsy, chorionic villus sampling, amniocentesis, and noninvasive prenatal testing using cell-free DNA.
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