ArticleHuman genetics2011
Transcriptomic analysis of cell-free fetal RNA suggests a specific molecular phenotype in trisomy 18.
Article in Human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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Who cites it
35 citing papers in PubMed, 50 citations in OpenAlex.
- The amniotic fluid cell-free transcriptome in spontaneous preterm labor.Scientific reports · 2021Trial
- The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.Human genetics · 2026Article
- Identification of gestational-age-dependent cell-free fetal mRNA transcriptional changes in human amniotic fluid.Journal of human genetics · 2026Article
- The impact of nationwide folic acid fortification on genetic variants associated with conotruncal heart defects.Research square · 2026Article
- A Patient Diagnosed with Mosaic Trisomy 18 Presenting New Symptoms: Diaphragmatic Relaxation and Cyclic Vomiting Syndrome. Updated Review of Mosaic Trisomy 18 Cases.Journal of pediatric genetics · 2024Article
- Pre-pregnancy BMI, gestational weight gain, and telomere length in amniotic fluid: a causal graph analysis.Scientific reports · 2024Article
- A Framework for Understanding Maternal Immunity.Immunology and allergy clinics of North America · 2023Review
- Emerging technologies for prenatal diagnosis: The application of whole genome and RNA sequencing.Prenatal diagnosis · 2022Review
- Identification of a novel gene signature in second-trimester amniotic fluid for the prediction of preterm birth.Scientific reports · 2022Article
- Single-Cell Transcriptomics of Cultured Amniotic Fluid Cells Reveals Complex Gene Expression Alterations in Human Fetuses With Trisomy 18.Frontiers in cell and developmental biology · 2022Article
- The Relationship between Telomere Length and Gestational Weight Gain: Findings from the Mamma & Bambino Cohort.Biomedicines · 2021Article
- The Amniotic Fluid Cell-Free Transcriptome Provides Novel Information about Fetal Development and Placental Cellular Dynamics.International journal of molecular sciences · 2021Review
- Global gene expression analysis of cell-free RNA in amniotic fluid from women destined to develop preeclampsia.Medicine · 2019Observational
- Amniotic fluid transcriptomics reflects novel disease mechanisms in fetuses with myelomeningocele.American journal of obstetrics and gynecology · 2017Article
- Transcriptome Profiling Uncovers Potential Common Mechanisms in Fetal Trisomies 18 and 21.Omics : a journal of integrative biology · 2017Article
- Global transcriptome dysregulation in second trimester fetuses with FMR1 expansions.Prenatal diagnosis · 2017Article
- The pathway not taken: understanding 'omics data in the perinatal context.American journal of obstetrics and gynecology · 2015Article
- CSAX: Characterizing Systematic Anomalies in eXpression Data.Journal of computational biology : a journal of computational molecular cell biology · 2015Article
- A possible role of aryl hydrocarbon receptor in spontaneous preterm birth.Medical hypotheses · 2015Article
- The amniotic fluid transcriptome as a guide to understanding fetal disease.Cold Spring Harbor perspectives in medicine · 2015Review
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Trisomy 18 is a common human aneuploidy that is associated with significant perinatal mortality. Unlike the well-characterized "critical region" in trisomy 21 (21q22), there is no corresponding region on chromosome 18 associated with its pathogenesis. The high morbidity and mortality of affected individuals has limited extensive investigations. In order to better understand the molecular mechanisms underlying the congenital anomalies observed in this condition, we investigated the in utero gene expression profile of second trimester fetuses affected with trisomy 18. Total RNA was extracted from cell-free amniotic fluid supernatant from aneuploid fetuses and euploid controls matched for gestational age and hybridized to Affymetrix U133 Plus 2.0 arrays. Individual differentially expressed transcripts were obtained by two-tailed t tests. Over-represented functional pathways among these genes were identified with DAVID and Ingenuity(®) Pathways Analysis. Results show that three hundred and fifty-two probe sets representing 251 annotated genes were statistically significantly differentially expressed between trisomy 18 and controls. Only 7 genes (2.8% of the annotated total) were located on chromosome 18, including ROCK1, an up-regulated gene involved in valvuloseptal and endocardial cushion formation. Pathway analysis indicated disrupted function in ion transport, MHCII/T cell mediated immunity, DNA repair, G-protein mediated signaling, kinases, and glycosylation. Significant down-regulation of genes involved in adrenal development was identified, which may explain both the abnormal maternal serum estriols and the pre and postnatal growth restriction in trisomy 18. Comparison of this gene set to one previously generated for trisomy 21 fetuses revealed only six overlapping differentially regulated genes. This study contributes novel information regarding functional developmental gene expression differences in fetuses with trisomy 18.
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