Validate Non-invasive Prenatal Tests for the Detection of Chromosomal Abnormalities

NCT ID: NCT05618431

Last Updated: 2023-12-06

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Clinical Phase

NA

Total Enrollment

1790 participants

Study Classification

INTERVENTIONAL

Study Start Date

2023-02-01

Study Completion Date

2024-06-01

Brief Summary

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This study will be conducted on pregnant patients for whom there is a suspicion of a chromosomal abnormality of the fetus. These are patients eligible for non-invasive prenatal screening as part of their usual pregnancy surveillance. This research aims to develop and validate a new method for non-invasive prenatal testing.

This prospective collection study will allow the collection of biological samples necessary for the development, testing and validation of these new tests

Detailed Description

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The main objective : of the study is the validation of non-invasive prenatal tests for the detection of chromosomal abnormalities by analyzing the fetal DNA present in maternal blood by a new generation digital PCR.

The secondary objective of this research: is to validate the reliability of the test on both populations (affected and unaffected) and its ability to detect the following anomalies: Triple X and 22q.11.2 Micro-deletion.

Type and methodology of research :

Although the only act of the research being the sampling of a maximum of 3 additional blood tubes for a maximum volume of 30 mL during a blood test as part of the care, this study is qualified as research involving the human person at risk and minimal constraints.

Provisional research calendar :

The inclusion period for subjects is 18 months, from the date of inclusion of the first patient.

The duration of the subjects' participation in this research protocol is related to the time of inclusion and the procedure of blood collection by venipuncture.

The end of participation of patients included in the study is effective as soon as the collection of the sample is completed.

Primary endpoint:

Evaluation of the non-inferiority of a new non-invasive test for the detection of chromosomal abnormalities and to determine the accuracy of fetal sex classification by the new NIPT method combined with next-generation digital PCR from acellular fetal DNA found in maternal plasma.

Secondary endpoint:

Evaluation of test performance in both populations (affected and unaffected) Evaluation of the performance of the test to detect the following anomalies: Triple X and 22q.11.2 Micro-deletion.

Conditions

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Validation of New Test NIPT

Study Design

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Allocation Method

NA

Intervention Model

SINGLE_GROUP

Demonstrating non-inferiority means ensuring that the product tested does not have an efficacy that would be too inferior to the reference product.
Primary Study Purpose

DIAGNOSTIC

Blinding Strategy

NONE

Study Groups

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pregnant women

Pregnant woman 18 and 50 years oldbetween 10 and 40 weeks of pregnancy

Group Type OTHER

NIPT

Intervention Type OTHER

This research aims to develop and validate a new method for non-invasive prenatal testing

Interventions

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NIPT

This research aims to develop and validate a new method for non-invasive prenatal testing

Intervention Type OTHER

Eligibility Criteria

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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.


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
Minimum Eligible Age

18 Years

Maximum Eligible Age

50 Years

Eligible Sex

FEMALE

Accepts Healthy Volunteers

No

Sponsors

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CerbaXpert

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Locations

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APHP

Paris, , France

Site Status RECRUITING

Countries

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France

Facility Contacts

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BENACCHI Alexandra

Role: primary

Other Identifiers

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2022-A00290-43

Identifier Type: -

Identifier Source: org_study_id