Aneuploidy
diseaseOn this page
Also known as chromosome number anomaly
Summary
Aneuploidy (MONDO:0700064) is a disease (an umbrella term covering 5 Mondo subtypes) and 42 clinical trials. Top therapeutic interventions include ubidecarenone. A subtype of chromosomal disorder — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Umbrella term: 5 Mondo subtypes
- Clinical trials: 42
Clinical features
No curated clinical features (Orphanet) for this disease.
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | aneuploidy |
| Mondo ID | MONDO:0700064 |
| MeSH | D000782 |
| NCIT | C2873 |
| UMLS | C0002938 |
| MedGen | 294 |
| Is cancer (heuristic) | no |
Also known as: chromosome number anomaly
Disease family
This is a subtype of chromosomal disorder. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.
Classification path: disease › human disease › disease by etiologic mechanism › disease of genetic or genomic mechanism › chromosomal disorder › aneuploidy
Related subtypes (17): mosaic variegated aneuploidy syndrome, syndrome caused by partial chromosomal deletion, syndrome caused by partial chromosomal duplication, Prader-Willi syndrome, Silver-Russell syndrome, Bloom syndrome, duplication/inversion 15q11, polyploidy, autosomal anomaly, gonosome anomaly, FRAXD syndrome, chromosome inversion disorder, uniparental disomy, ring chromosome disorder, chromosome Xq13 duplication syndrome, chromosome 1p36 deletion syndrome, proximal, chromosome 16q12 duplication syndrome
Subtypes (5): 49,XXXYY syndrome, monosomy, tetrasomy, trisomy, pentasomy
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 42.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| Not specified | 41 |
| PHASE4 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT01760278 | PHASE4 | UNKNOWN | Assessment of Implantation Potential of Embryos by Time-lapse Technology |
| NCT03831256 | Not specified | ACTIVE_NOT_RECRUITING | PErsonalized Genomics for Prenatal Abnormalities Screening USing Maternal Blood |
| NCT04109846 | Not specified | RECRUITING | Pregnancy and Developmental Outcomes After Transfer of Reportedly Aneuploid or Mosaic Embryos |
| NCT06023472 | Not specified | RECRUITING | Microfluidic Chip vs Density Gradient Centrifugation on the Euploidy Rate of Pre-implantation Genetic Testing |
| NCT06419127 | Not specified | ENROLLING_BY_INVITATION | Embryo Assessment Utilizing Timelapse Imaging in Conjunction With Preimplantation Genetic Testing for Aneuploidy With Next Generation Sequencing |
| NCT06771453 | Not specified | ACTIVE_NOT_RECRUITING | GEM: Impact of a Video Education Tool on Decisional Conflict Among Prenatal Patients |
| NCT06915311 | Not specified | RECRUITING | Danish Prognostic Research on Embryonic Diagnostics Involving Chromosomal Testing. |
| NCT07036536 | Not specified | RECRUITING | Non-Euploid Embryo Transfer (NEET) Registry |
| NCT00802295 | Not specified | COMPLETED | Aneuploidies and Different Stimulation Protocols |
| NCT00971334 | Not specified | COMPLETED | Noninvasive Screening for Fetal Aneuploidy: A New Maternal Plasma Marker |
| NCT01048385 | Not specified | TERMINATED | The Effect of Co Enzyme Q10 Together With Fertility Drugs on Pregnancy Outcome of in Vitro Fertilization |
| NCT01052688 | Not specified | COMPLETED | Noninvasive Screening for Affected Pregnancies: Assay Development & Optimization in Affected Pregnancies |
| NCT01256606 | Not specified | COMPLETED | Prenatal Test for Fetal Aneuploidy Detection |
| NCT01545674 | Not specified | TERMINATED | Prenatal Non-invasive Aneuploidy Test Utilizing SNPs Trial |
| NCT01574404 | Not specified | COMPLETED | Polar Body Biopsy for Preimplantation Genetic Screening |
| NCT01597063 | Not specified | COMPLETED | Clinical Evaluation of the SEQureDx Trisomy Test in Low Risk Pregnancies |
| NCT02119117 | Not specified | COMPLETED | Aneuploidy Rates in Advanced Maternal Age Patients Supplemented With Coenzyme Q10 (CoQ10) Versus Those That Are Not: a Pilot Study |
| NCT02201862 | Not specified | COMPLETED | Non-Invasive Chromosomal Evaluation of Trisomy Study |
| NCT02268786 | Not specified | COMPLETED | Single Embryo TrAnsfeR of Euploid Embryo |
| NCT02284399 | Not specified | COMPLETED | National Prevalence and Impact of Noninvasive Prenatal Testing |
| NCT02787486 | Not specified | COMPLETED | Expanded Noninvasive Genomic Medical Assessment: The Enigma Study |
| NCT02991729 | Not specified | COMPLETED | Use of a Novel Computerized Decision Aid for Prenatal Aneuploidy Screening |
| NCT03449225 | Not specified | UNKNOWN | Prenatal Computer-Aided Genetics Education Module |
| NCT03520933 | Not specified | COMPLETED | Multi-center Study to Validate niPGT-A |
| NCT03673592 | Not specified | COMPLETED | Clinical Value of Mosaicism Diagnosis on the Trophectoderm Biopsies |
| NCT03816423 | Not specified | COMPLETED | Use of Videos to Improve Patient Knowledge on Prenatal Genetics |
| NCT03860064 | Not specified | COMPLETED | Aneuploidy Rates of in Vitro Matured Oocytes |
| NCT03981120 | Not specified | UNKNOWN | The Effect of Acupuncture on Pregnancy Rates in Women Undergoing in Vitro Fertilization With Preimplantation Genetic Screening |
| NCT04000152 | Not specified | TERMINATED | RCT Study to Validate niPGT-A Clinical Benefit. |
| NCT04077060 | Not specified | COMPLETED | First Trimester Risk Assessment Based on Ultrasound and Cell-free DNA vs Combined Screening |
| NCT04420858 | Not specified | COMPLETED | Effect of Video Education on Patients’ Knowledge and Attitudes of Privacy in Prenatal Genetics |
| NCT04732013 | Not specified | UNKNOWN | Noninvasive Chromosomal Screening for Embryo Selection Trial |
| NCT04865367 | Not specified | COMPLETED | How Secreted-embryo-derived Trypsin Initiates, Maintains and Terminates Ca2+ Signals in Uterine Epithelial Cells |
| NCT04901247 | Not specified | UNKNOWN | A Time-lapse Monitoring Prospective Study |
| NCT05488236 | Not specified | COMPLETED | Nuclear Magnetic Resonance for Embryo Ploidy Selection |
| NCT05492981 | Not specified | UNKNOWN | Does an Educational Video for Aneuploidy Screening Improve Informed Choice Among Pregnant Women? |
| NCT05545995 | Not specified | UNKNOWN | Time Lapse Assisted Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection |
| NCT05547555 | Not specified | UNKNOWN | Invasive PGT-A Embryo Selection Versus Non Invasive PGT-A Assisted Embryo Selection |
| NCT05723016 | Not specified | COMPLETED | Anti-Müllerian Hormone and Embryo Aneuploidy |
| NCT05798858 | Not specified | UNKNOWN | A Pilot Study for Implementation of First Trimester Screening of Aneuploidies in Campania Region |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| UBIDECARENONE | 3 | 1 |
Related Atlas pages
- Drugs: Ubidecarenone