ArticleAmerican journal of human genetics1997
Meiotic origin of trisomy in confined placental mosaicism is correlated with presence of fetal uniparental disomy, high levels of trisomy in trophoblast, and increased risk of fetal intrauterine growth restriction.
Article in American journal of human genetics, 1997. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
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Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Hematologic Manifestations of Constitutional Trisomy 8 Mosaicism: Two Cases and a Systematic Review of Cytogenetically Confirmed Patients.Genes, chromosomes & cancer · 2026Pooled it
- A fetus with paternal uniparental isodisomy of chromosome 3: genetic analysis and prenatal diagnosis following a positive NIPS with IUGR.Molecular cytogenetics · 2026Article
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- Re-reply to Sabbagh et al.European journal of human genetics : EJHG · 2026Article
- Chromosome-dependent aneuploid formation in Spo11-less meiosis.Genes to cells : devoted to molecular & cellular mechanisms · 2023Article
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- Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.European journal of human genetics : EJHG · 2022Review
- Phenotypic findings and pregnancy outcomes of fetal rare autosomal aneuploidies detected using chromosomal microarray analysis.Human genomics · 2022Article
- Cell-free DNA screening for rare autosomal trisomies and segmental chromosome imbalances.Prenatal diagnosis · 2022Article
- Review
- Preimplantation chromosomal mosaics, chimaeras and confined placental mosaicism.Reproduction & fertility · 2022Review
- Initial Clinical Experience with NIPT for Rare Autosomal Aneuploidies and Large Copy Number Variations.Journal of clinical medicine · 2022Article
- Genetic variation in placental insufficiency: What have we learned over time?Frontiers in cell and developmental biology · 2022Review
- Outcomes of pregnancies with trisomy 16 mosaicism detected by NIPT: a series of case reports.Molecular cytogenetics · 2021Article
- Chromosomal mosaicism: Origins and clinical implications in preimplantation and prenatal diagnosis.Prenatal diagnosis · 2021Article
- Genomic imbalances in the placenta are associated with poor fetal growth.Molecular medicine (Cambridge, Mass.) · 2021Article
- Confined placental mosaicism of Duchenne muscular dystrophy: a case report.Molecular cytogenetics · 2020Article
- The significance of the placental genome and methylome in fetal and maternal health.Human genetics · 2020Review
- The clinical benefit of genome-wide cfDNA testing cannot be extrapolated from CVS data.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Outcomes in pregnancies with a confined placental mosaicism and implications for prenatal screening using cell-free DNA.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
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Authors and funding
10 authors.
Funding
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Abstract
Molecular studies were performed on 101 cases of confined placental mosaicism (CPM) involving autosomal trisomy. The origin of the trisomic cell line was determined in 54 cases (from 51 pregnancies), 47 of which were also analyzed for the presence of uniparental disomy (UPD) in the disomic cell line. An additional 47 cases were analyzed for parental origin in the disomic cell line only. A somatic (postmeiotic) origin of the trisomy was observed in 22 cases and included the majority of cases with CPM for trisomy 2, 7, 8, 10, and 12. Most cases of CPM involving trisomy 9, 16, and 22 were determined to be meiotic. Fetal maternal UPD was found in 17 of 94 informative CPM cases, involving trisomy 2 (1 case), 7 (1 case), 16 (13 cases), and 22 (2 cases). The placental trisomy was of meiotic origin in all 17 cases associated with fetal UPD (P = .00005). A meiotic origin also correlated with the levels of trisomy in cultured chorionic villi samples (CVS) (P = .0002) and trophoblast (P = .00005). Abnormal pregnancy outcome (usually IUGR) correlated with meiotic origin (P = .0003), the presence of fetal UPD (P = 4 x 10(-7)), and the level of trisomy in trophoblast (P = 3 x 10(-7)) but not with the level of trisomy in CVS or term chorion. The good fit of somatic errors with the expected results could have been observed only if few true meiotic errors were misclassified by these methods as a somatic error. These data indicate that molecular determination of origin is a useful predictor of pregnancy outcome, whereas the level of trisomy observed in cultured CVS is not. In addition, UPD for some chromosomes may affect prenatal, but not postnatal, development, possibly indicating that imprinting effects for these chromosomes are confined to placental tissues.
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