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Scientists to map hidden DNA changes behind birth defects

NCT ID NCT07515976

Knowledge-focused Sponsor: Peking Union Medical College Hospital Source: ClinicalTrials.gov ↗

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Recruitment status, easiest to join first

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Not yet recruiting This study
Registered, but not yet taking participants.
By invitation only
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Paused for now. It may or may not start again.
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The trial has finished. Results may not be published yet.
Stopped early
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Cancelled before anyone took part.

Expanded access (not trials)

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When the status isn't known

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Status unknown
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First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study aims to find hidden DNA changes in 100 families where a baby has a major birth defect but standard genetic tests came back normal. Using advanced DNA sequencing, researchers will create a detailed map of structural variations (like missing or rearranged DNA pieces) specific to the Chinese population. The goal is to improve early detection and prevention of birth defects.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 100 people

The number the study aims to enrol. It can still change while the study runs.

Expected to start

May 2026

An estimate. Start dates often move.

Expected to finish

Nov 2027

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

Pregnant patients at Peking Union Medical College Hospital

Ages

20 to 45 years

Sex

Female participants only

Healthy volunteers

Accepted

You do not need to have the condition being studied to take part.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * Single pregnancy with ultrasound findings of fetal structural abnormalities * Negative results for prenatal WES, karyotyping, CMA, etc. * Only one heterozygous pathogenic variant is detected in a suspected recessive genetic disorder, with no second suspected pathogenic variant identified. Exclusion Criteria: * Twin/multiple pregnancy * No interventional prenatal diagnosis performed * Refusing further testing

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Prenatal diagnosis

How to take part

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