New DNA tests could spot hidden chromosome flaws in infertility and developmental disorders
NCT ID NCT05290051
First seen Jun 25, 2026 · Last updated Jun 27, 2026 · Updated 1 time
Summary
This study tested two new technologies—optical genome mapping and long-read DNA sequencing—against standard chromosome tests in 350 people with infertility, intellectual disability, birth defects, or miscarriage. The goal was to see if these newer methods can find more chromosome abnormalities than current approaches. Results could lead to a single, more powerful test for genetic diagnosis.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- Optical genome mapping and long-read DNA sequencing
- What this could lead to
- If successful, these new tests could replace current methods and find more chromosome abnormalities, leading to better diagnoses for infertility, developmental disorders, and recurrent miscarriages.
- What could go wrong
- This is an early comparison study, not a treatment trial. The new tests may not be more accurate or practical than existing ones, and results may not apply to all patients.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Cochin APHP
Paris, 75014, France
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