Validation of a new non-invasive prenatal test for detecting chromosomal abnormalities
Prospective Biological Sample Collection Aiming to Validate Non-invasive Prenatal Tests by Analyzing Fetal DNA Present in Maternal Blood Using a Next-generation Digital PCR Technique
This study is testing a new blood test for pregnant women to see if it can accurately detect certain chromosomal problems in their babies without being invasive.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 1790 (estimated) |
| Ages | 18 Years to 50 Years |
| Sex | Female |
| Sponsor | CerbaXpert Academic / other |
| Drugs / interventions | immunotherapy |
| Locations | 1 site (Paris) |
| Trial ID | NCT05618431 on ClinicalTrials.gov |
What this trial studies
This study focuses on pregnant patients suspected of having a fetus with chromosomal abnormalities and aims to validate a new non-invasive prenatal testing (NIPT) method. By analyzing fetal DNA present in maternal blood using next-generation digital PCR, the study seeks to determine the accuracy of this new test in detecting conditions such as Triple X syndrome and 22q.11.2 micro-deletion. Participants will provide additional blood samples during routine testing, and the study will evaluate the test's reliability and effectiveness in both affected and unaffected populations.
Who should consider this trial
Good fit: Ideal candidates for this study are pregnant women between 10 and 40 weeks of gestation who are at risk for chromosomal abnormalities.
Not a fit: Patients with confirmed mosaic samples or those who have undergone recent blood transfusions or organ transplants may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could provide a more accurate and less invasive method for detecting chromosomal abnormalities in fetuses, improving prenatal care.
How similar studies have performed: Other studies have shown promise in validating non-invasive prenatal tests, but this specific approach using next-generation digital PCR is relatively novel.
Eligibility criteria
Show full inclusion / exclusion criteria
Inclusion criteria 1. Pregnant woman between 10 and 40 weeks of pregnancy 2. Gestational age at time of collection of the known sample 3. Maternal age 18-50 years 4. Sex of the fetus or newborn known (confirmed by doctor or karyotype) 5. Number of known fetuses 6.a) for affected samples: result of the karyotype available 6.b) for unaffected samples: preferably, result of the available karyotype; A secondarily negative NIPT result associated with a doctor's confirmation of the delivery of a healthy baby. 7. Have a diagnostic result (such as amniocentesis or CVS) available if NIPT is positive 8. Patients Affiliated to a social security scheme or entitled to. Non-inclusion criteria 1. Confirmed mosaic sample 2. Confirmed maternal mosaicism 3. Recent maternal blood transfusion known 4. Patient who received an organ transplant 5. Patient who underwent surgery 6. Patient on immunotherapy or stem cell therapy and/or other maternal malignancy 7. Patient already included in the study during pregnancy 8. Patient under guardianship or curatorship or safeguard of justice
Where this trial is running
Paris
- Aphp — Paris, France (Recruiting)
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.