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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Age matters: study hopes to boost fertility in klinefelter syndrome
Disease control CompletedThis study looked at 141 men with Klinefelter syndrome (47,XXY) to see if younger men (ages 15–22) have a better chance of finding sperm through testicular biopsy compared to older men (ages 23–55). Participants provided two semen samples, and if no sperm were found, they underwe…
Sponsor: Hospices Civils de Lyon • Aim: Disease control
Last updated Jun 27, 2026 08:05 UTC
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Blood test may untangle vanishing twin puzzle to screen the survivor
Diagnosis CompletedThis study is testing whether a blood test can tell apart the DNA from a vanishing twin and the living twin in pregnancies where one twin stops developing. The goal is to improve non-invasive prenatal screening for chromosome conditions like trisomy 21, 18, and 13 in the survivin…
Sponsor: Natera, Inc. • Aim: Diagnosis
Last updated Aug 19, 2026 00:00 UTC
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Blood test could replace risky amniocentesis for down syndrome diagnosis
Diagnosis CompletedThis study tested a new blood test to diagnose Down syndrome (trisomy 21) in pregnant women without the risks of invasive procedures like amniocentesis. Researchers collected blood samples from 150 pregnant women at high risk and analyzed fetal cells. The goal is to provide a saf…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 12:03 UTC
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Simple blood test could replace risky prenatal procedures for down syndrome
Diagnosis CompletedThis study tested a new blood test that looks at fetal DNA in the mother's blood to detect Down syndrome (trisomy 21) as early as the first trimester. Researchers enrolled 976 pregnant women at high risk and compared the blood test results to standard invasive methods. The goal w…
Sponsor: Assistance Publique - Hôpitaux de Paris • Aim: Diagnosis
Last updated Jun 27, 2026 08:11 UTC
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IVF lab test: when to hatch embryos for best genetic results?
Knowledge-focused CompletedThis study looks at whether doing a laser-assisted hatching procedure on Day 3 or Day 5 of embryo growth changes the genetic test results in IVF. About 200 people having IVF with genetic testing will take part. The goal is to see if timing affects embryo health and the accuracy o…
Sponsor: Hoang Minh Ngan • Aim: Knowledge-focused
Last updated Sep 12, 2026 00:00 UTC
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Scientists dig into the mysteries of x and y chromosomes
Knowledge-focused CompletedThis study looked at 112 people with known differences in their sex chromosomes (X and Y) to better understand how these variations affect health, especially infertility. Participants underwent physical exams, blood and urine tests, imaging, and sensory checks over about 5 days. …
Sponsor: National Human Genome Research Institute (NHGRI) • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:07 UTC
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Sperm vacuoles may reveal hidden DNA damage
Knowledge-focused CompletedThis study looked at 200 men with sperm abnormalities to see if vacuoles (tiny holes) in the sperm head are linked to DNA damage. Researchers used high-powered microscopes and genetic tests to measure vacuole size and chromosome errors. The goal is to help doctors pick healthier …
Sponsor: University Hospital, Rouen • Aim: Knowledge-focused
Last updated Jun 27, 2026 13:06 UTC
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IVF breakthrough? new test spots healthy embryos in minutes!
Knowledge-focused CompletedThis study tested a new way to pick the healthiest embryos for IVF. Instead of the usual expensive genetic test, researchers used a machine (NMR) to analyze the fluid embryos grow in. They looked for chemical differences between normal and abnormal embryos. The goal is to make em…
Sponsor: Instituto Valenciano de Infertilidade de Lisboa • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:07 UTC
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Father's age may matter in down syndrome screening, study suggests
Knowledge-focused CompletedThis completed study of over 7,000 pregnant women looked at whether the father's age influences the chance of Down syndrome (trisomy 21) in the baby. While it's well known that the mother's age matters, the father's role is less clear. Researchers used a blood test called the Opt…
Sponsor: Clinique Ovo • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:03 UTC