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Maternal uniparental disomy of chromosome X

MONDO:0016851

Also known as: UPD(X)mat, maternal uniparental disomy of chromosome type X

6 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Human disease (14) Chromosomal disorder (12) Gonosome anomaly (5) Disease of genetic or genomic mechanism (2) Chromosome X disorder (0) Disease by etiologic mechanism (0) Uniparental disomy (0)

Trials to join now! 1 Not yet finished but already full! 3 Completed 2

New prenatal blood test aims to detect genetic disorders without invasive procedures

Diagnosis Recruiting now

This 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