Can a simple blood test reliably screen for fetal genetic conditions?
NCT ID NCT04595201
First seen Sep 08, 2026 · Last updated Sep 09, 2026 · Updated 1 time
Summary
This study follows 20,000 pregnant women who took a non-invasive prenatal test (NIPT) to see how accurately the test predicts fetal genetic conditions. Researchers will compare the test results with actual pregnancy outcomes to measure its sensitivity, specificity, and predictive value. The goal is to confirm how well NIPT works as a routine screening tool for pregnant women.
What this could mean
Our plain-language read of the trial. This is informational only, not medical advice or a prediction.
- Active substance
- Non-invasive prenatal testing (NIPT), a blood test that screens for fetal genetic conditions
- What this could lead to
- If the test performs well, it could confirm NIPT as a reliable screening tool for pregnant women, helping them make informed decisions.
- What could go wrong
- This is an observational follow-up, not a treatment trial, so it won't change outcomes. Accuracy may vary across populations, and the study depends on available pregnancy outcome data.
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
-
20,000 people
The number who actually took part.
- Started
-
Oct 2020
- Finished
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Sep 2026
- Lead sponsor
-
A company
The lead sponsor is a pharmaceutical, biotech, or medical-device company.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
The Study Population will consist of women 18 years of age and older who underwent testing with a Sequenom NIPT and whose pregnancies should have outcome based upon gestational age at the time of testing.
- Ages
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18 years and older
- Sex
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Female participants only
Show the full entry requirements Hide 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: * Subject was pregnant and received NIPT from Sequenom/Integrated Genetics * Subject was 18 years of age or older at the time of NIPT * Pregnancy outcome is available Exclusion Criteria: * None
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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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Integrated Genetics
Westborough, Massachusetts, 01581, United States
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