Aneuploidy
MONDO:0700064Chromosomal disorder consisting of the presence a chromosomal abnormality in which there is an addition or loss of chromosomes within a set.
Also known as: chromosome number anomaly
36 clinical trials for this condition and its sub-types, 14 tagged with Aneuploidy itself.
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Sub-types of Aneuploidy
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Trisomy 1 trial · 24 incl. sub-types
23 sub-types
- Trisomy 21 9 trials · 10 incl. sub-types Sub-types →
- Klinefelter syndrome 9 trials
- Trisomy 13 4 trials Sub-types →
- Trisomy 18 3 trials Sub-types →
- Trisomy X 3 trials
- 47,XYY syndrome 2 trials
- Chromosome 8, trisomy 0 trials · 1 incl. sub-types Sub-types →
- Chromosome 16 trisomy 0 trials Sub-types →
- Chromosome 20 trisomy 0 trials Sub-types →
- Mosaic trisomy 1 0 trials
- Mosaic trisomy 10 0 trials
- Mosaic trisomy 12 0 trials
- Mosaic trisomy 14 0 trials
- Mosaic trisomy 15 0 trials
- Mosaic trisomy 17 0 trials
- Mosaic trisomy 2 0 trials
- Mosaic trisomy 3 0 trials
- Mosaic trisomy 4 0 trials
- Mosaic trisomy 5 0 trials
- Mosaic trisomy 6 0 trials
- Mosaic trisomy 7 0 trials
- Mosaic trisomy 9 0 trials
- Trisomy 22 0 trials Sub-types →
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49,XXXYY syndrome 0 trials
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Monosomy 0 trials
4 sub-types
- Chromosome 18 mosaic monosomy 0 trials
- Monosomy 22 0 trials Sub-types →
- Monosomy X 0 trials Sub-types →
- Monosomy chromosome 8 0 trials
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Pentasomy 0 trials
3 sub-types
- 49,XXXXY syndrome 0 trials
- 49,XYYYY syndrome 0 trials
- Pentasomy X 0 trials
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Tetrasomy 0 trials
4 sub-types
- 48,XXXY syndrome 0 trials
- 48,XYYY syndrome 0 trials
- Tetrasomy 21 0 trials
- Tetrasomy X 0 trials
Most studied deeper sub-types
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Can early parent coaching help infants with rare genetic disorders thrive?
Disease control By invitation onlyThis study tests a program called PIXI that coaches parents of infants diagnosed with rare neurogenetic disorders (such as Fragile X, Angelman, or Down syndrome) during the first year of life. The program combines education about the disorder, guided parent-child interaction acti…
Sponsor: RTI International • Aim: Disease control
Last updated Jul 15, 2026 00:00 UTC
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New sperm-sorting chip could boost IVF success rates
Disease control OngoingThis study compares a new microfluidic device, SwimCount Harvester, to standard sperm preparation methods in couples undergoing IVF with genetic testing (PGT-A). About 1,600 couples will be randomly assigned to one of the two methods. The goal is to see if the device leads to mor…
Sponsor: MotilityCount aps • Aim: Disease control
Last updated Jun 27, 2026 09:00 UTC
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New program aims to ease burden on families of kids with rare diseases
Symptom relief By invitation onlyThis study tests a program called FACE-Rare, designed to support family caregivers of children with rare, life-limiting diseases. The program includes three sessions to help families prepare for future medical decisions and improve their quality of life. Researchers will compare …
Sponsor: Children's National Research Institute • Aim: Symptom relief
Last updated Jun 27, 2026 09:00 UTC
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A Baby's fidgets may reveal brain health: study tests early warning signs
Knowledge-focused OngoingResearchers are studying the natural fidgety movements of infants to see if these movements can help predict cerebral palsy and other developmental issues. They will follow 350 babies, including healthy full-term infants and those at higher risk due to medical conditions, trackin…
Sponsor: Ann & Robert H Lurie Children's Hospital of Chicago • Aim: Knowledge-focused
Last updated Sep 05, 2026 00:00 UTC
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New study maps normal heart function in newborns
Knowledge-focused OngoingThis study observes heart function in 216 newborns born at 35 weeks or later. Researchers will use ultrasound to measure how the heart relaxes and fills with blood, creating normal reference values. They will also check if factors like mother's health or birth conditions affect h…
Sponsor: University College Cork • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:10 UTC
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Watching embryos grow: a new way to pick the best for IVF?
Knowledge-focused By invitation onlyThis study watches embryos grow using time-lapse cameras and compares their development to genetic test results. Researchers hope to find visual clues that indicate a healthy embryo. 2000 IVF patients are taking part. If a link is found, it could lead to a less invasive way to ch…
Sponsor: Gattaca Genomics • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:00 UTC
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New study aims to unlock mysteries of sex chromosome disorders in children
Knowledge-focused By invitation onlyThis study follows 300 fetuses and children with sex chromosome disorders to track their growth, organ development, and overall health. Researchers will also look at genetic and gut microbiome factors. The goal is to better understand how these conditions affect children over tim…
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:11 UTC
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Scientists probe genetic secrets of lost fetuses to unravel sex chromosome mysteries
Knowledge-focused By invitation onlyThis study looks at fetuses with sex chromosome disorders (like extra or missing X or Y chromosomes) that were either miscarried or electively aborted. Researchers will analyze the placenta and fetal tissues to see how the chromosome changes affect gene activity and development. …
Sponsor: University of Aarhus • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:09 UTC
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Short video may ease tough prenatal genetic decisions
Knowledge-focused OngoingThis pilot study tests whether a short video about prenatal genetics helps pregnant patients feel less conflicted when deciding about genetic testing. About 140 participants will either watch the video or receive standard care, then complete surveys. The goal is to see if the vid…
Sponsor: Women and Infants Hospital of Rhode Island • Aim: Knowledge-focused
Last updated Jun 26, 2026 18:18 UTC
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300 men with klinefelter syndrome to be tracked for decades in landmark study
Knowledge-focused By invitation onlyThis study will follow 300 men with Klinefelter syndrome (an extra X chromosome) who are treated at a Danish hospital. Researchers will collect medical records, scans, and blood samples to map how the condition affects growth, hormones, fertility, heart health, and mental well-be…
Sponsor: Rigshospitalet, Denmark • Aim: Knowledge-focused
Last updated Jun 26, 2026 15:49 UTC