T21,18 and 13 Screening by Cell Free Fetal DNA in Low Risk Patients

Study Overview
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Brief Summary
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The purpose of this study is to evaluate the performance of non invasive screening in a population of pregnant women with and without in vitro fertilisation (IVF) concomitantly to regular first trimester trisomy 21 (T21) screening using maternal age, nucal fold measurement and serum screening.

Detailed Description
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All pregnant women in 9 institutions in France will be offer both regular first trimester screening for trisomy 21 (T21) and cell free DNA non invasive (NI) screening test at the same time. Specificity and the positive and negative predictive values of the NI test will be analysed. The population will be divided in women who did and did not get pregnant after an In vitro fertilisation (IVF) procedure.

Official Title
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Fetal Aneuploidies Screening (21,18 and 13) by Cell Free Fetal DNA Analysis. Pilot Study in Low Risk Population and Pregnant Women After in Vitro Fertilisation (IFV)

Conditions
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Trisomy 21, 18 and 13 Screening

Intervention / Treatment
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* Device: Genetic NIPT
* Biological: Regular serum screening


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: Age >18 Singleton pregnancy Having a spontaneous pregnancy or obtained by AMP , Having chosen to carry out a screening of the T21 to the first or second trimester of pregnancy , Gestational age >=10 weeks of amenorrhea Consenting to invasive prenatal diagnosis, Having health insurance, Having signed the informed consent Exclusion Criteria: The Patients whose fetus has an abnormality on the first trimester ultrasound including nuchal translucency > 3.5mm , Participant to another biomedical research. Pregnancy twins including the presence of a twin vanishing

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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Female

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Screening
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Genetic NIPT and regular serum screening<br>All woman will be tested using the two tests, genetic NIPT (Non Invasive Prenatal Testing) and regular serum screening. | Device: Genetic NIPT<br>* Both tests are realized in a population of pregnant women (with and without in vitro fertilisation (IVF)) concomitantly at the same time.<br>Biological: Regular serum screening<br> <br> * Other names: Usual screening;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic performance measured by specificity (%) of genetic Non Invasive Prenatal Testing (NIPT) in the two populations (with and without IVF) compared to regular serum screening |  | Between the 11th and the 13th week of amenorrhea | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Diagnostic performance measured by positive predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening | positive ad negative predictive values of NIPT in the two populations of woman with and without IVF. | Between the 11th and the 13th week of amenorrhea | 
| Diagnostic performance measured by negative predictive values (%) of genetic NIPT (Non Invasive Prenatal Testing) in the two populations compared to regular serum screening |  | Between the 11th and the 13th week of amenorrhea | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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IVF, screening, cell free fetal DNA, general population, trisomy 21