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)
Trial Snapshot
- Phase
- Not Applicable
- Status
- Completed
- Enrollment
- 933
- Locations
- 2
- Primary Endpoint
- 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
Study Overview
Brief Summary
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
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.
Study Design
- Study Type
- Interventional
- Allocation
- Na
- Intervention Model
- Single Group
- Primary Purpose
- Screening
- Masking
- None
Eligibility Criteria
- Ages
- 18 Years to — (Adult, Older Adult)
- Sex
- Female
- Accepts Healthy Volunteers
- No
Inclusion Criteria
- •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
Arms & Interventions
Genetic NIPT and regular serum screening
All woman will be tested using the two tests, genetic NIPT (Non Invasive Prenatal Testing) and regular serum screening.
Intervention: Genetic NIPT (Device)
Genetic NIPT and regular serum screening
All woman will be tested using the two tests, genetic NIPT (Non Invasive Prenatal Testing) and regular serum screening.
Intervention: Regular serum screening (Biological)
Outcomes
Primary Outcomes
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
Time Frame: Between the 11th and the 13th week of amenorrhea
Secondary Outcomes
- Diagnostic performance measured by positive 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)
- 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)