Mosaic trisomy 21
MONDO:0700127Trisomy 21 characterized by the presence of an extra chromosome 21 in some of the cells of the organism.
3 clinical trials for this condition and its sub-types, 1 tagged with Mosaic trisomy 21 itself.
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A simple blood draw could one day detect down syndrome in pregnancy
Diagnosis Recruiting nowResearchers are collecting blood samples from pregnant women at higher risk of having a baby with a chromosomal condition. The goal is to develop a noninvasive prenatal test that looks at cell-free DNA in the mother's blood to detect Down syndrome. Participants give blood between…
Sponsor: Sequenom, Inc. • Aim: Diagnosis
Last updated Sep 11, 2026 00:00 UTC
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New prenatal blood test aims to detect genetic disorders without invasive procedures
Diagnosis Recruiting nowThis study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…
Sponsor: BillionToOne Inc. • Aim: Diagnosis
Last updated Jun 27, 2026 13:06 UTC
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New study aims to uncover Alzheimer's clues in down syndrome
Knowledge-focused Recruiting nowThis study looks at how certain brain cells (cholinergic neurons) change with age in adults with Down syndrome, and how that relates to Alzheimer's disease risk. Researchers will use brain scans and EEGs to measure these changes in 30 adults aged 18-55 who do not have dementia. T…
Phase 2 • Sponsor: Vanderbilt University Medical Center • Aim: Knowledge-focused
Last updated Jun 27, 2026 14:01 UTC