Trisomy 21, 18 and 13 Screening
Conditions
Keywords
cell free fetal DNA, general population, screening, trisomy 21, IVF
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.
Interventions
DEVICEGenetic NIPT
Both tests are realized in a population of pregnant women (with and without in vitro fertilisation (IVF)) concomitantly at the same time.
BIOLOGICALRegular serum screening
Sponsors
Assistance Publique - Hôpitaux de Paris
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
SCREENING
Masking
NONE
Eligibility
Sex/Gender
FEMALE
Age
18 Years to No maximum
Healthy volunteers
No
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
Design outcomes
Primary
| Measure | 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
| Measure | Time frame | Description |
|---|---|---|
| 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 | positive ad negative predictive values of NIPT in the two populations of woman with and without IVF. |
| 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 | — |
Countries
France
Outcome results
None listed