MedPath

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

Not Applicable
Recruiting
Conditions
Validation of New Test NIPT
Interventions
Other: NIPT
Registration Number
NCT05618431
Lead Sponsor
CerbaXpert
Brief Summary

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

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.

Recruitment & Eligibility

Status
RECRUITING
Sex
Female
Target Recruitment
1790
Inclusion Criteria

Not provided

Exclusion Criteria

Not provided

Study & Design

Study Type
INTERVENTIONAL
Study Design
SINGLE_GROUP
Arm && Interventions
GroupInterventionDescription
pregnant womenNIPTPregnant woman 18 and 50 years oldbetween 10 and 40 weeks of pregnancy
Primary Outcome Measures
NameTimeMethod
Evaluation of the non-inferiority of a new non-invasive test for the detection of chromosomal abnormalities by analyzing the fetal DNA present in maternal blood by a new generation digital PCR18 months

As part of this study, comparative analyses will be carried out:

For qualitative variables: Pearson's Chi ² test will be used unless the estimated theoretical number in a cell is less than five, in which case the Yates continuity correction or the exact Fisher test will be applied.

For quantitative variables: the t-test or an analysis of Student's variance will be performed. Otherwise, post-hoc analyses will be performed using the Student-Neuman-Keuls test. If the data is not distributed normally, nonparametric tests will be used.

Secondary Outcome Measures
NameTimeMethod

Trial Locations

Locations (1)

APHP

🇫🇷

Paris, France

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