Informations générales (source: ClinicalTrials.gov)
"Fetal Aneuploidy Screening (21, 18 and 13) by Analysis of Circulating Fetal DNA in a Population of Pregnant Patients With Autoimmune Diseases" (AFFEPI)
Interventional
N/A
Assistance Publique - Hôpitaux de Paris (Voir sur ClinicalTrials)
décembre 2019
juin 2022
05 avril 2025
In the plasma of any pregnant patient circulates DNA (also called circulating free DNA).
The vast majority of this circulating free DNA is of maternal origin and about 10% is of
fetal origin (fetal circulating free DNA). This percentage of fetal circulating free DNA
(corresponding to the fetal fraction) increases with gestation.
The pathophysiological hypothesis of this research is that there is a change in the fetal
fraction (FF) of fetal circulating free DNA in patients with autoimmune disease (AID).
The underlying mechanism would be a massive release of maternal cfDNA responsible for a
dilution of fetal cfDNA. This dilution of fetal cfDNA would result in a decrease in the
estimate of the foetal fraction of circulating free DNA. However, when the foetal
fraction of circulating free DNA is insufficient (4% most often), screening for Trisomy
21 (T21) by fetal circulating free DNA becomes uninterpretable (NC for "non-contributory"
result), and cannot be used to assess the risk of T21. In this case, the dose of fetal
circulating free DNA can be performed again after 15 days, as the amount of fetal
circulating free DNA increases with gestation. In a small number of cases the result will
remain NC.
As tests using DNA are becoming more widespread, it is important to prospectively
evaluate the results of these tests in the population of patients with AID, which
represents about 3 to 5% of pregnant women.
Etablissements
| Les établissements d'Île-de-France ayant mis à jour leurs données Origine et niveau de fiabilité des données | |||||
|---|---|---|---|---|---|
| AP-HP - Hôpital Antoine Béclère | VIVANTI Alexandre | 02/12/2024 12:46:40 | Contacter | ||
| AP-HP - Hôpital Bicêtre | VIVANTI Alexandre | 02/12/2024 12:46:40 | Contacter | ||
| AP-HP - Hôpital Cochin | VIVANTI Alexandre | 02/12/2024 12:46:40 | Contacter | ||
| AP-HP - Hôpital Henri Mondor-Albert Chenevier | VIVANTI Alexandre | 02/12/2024 12:46:40 | Contacter | ||
| CHI DE CRETEIL | Bassam HADDAD | 06/02/2025 16:25:24 | Contacter | ||
| Les établissements sans correspondance certaine dans le répertoire FINESS dont les données sont issues de ClinicalTrials.gov Origine et niveau de fiabilité des données | |||||
| Hôpital Antoine Béclère - Clamart - Ile De France - France | Alexandre Vivanti | Contact (sur clinicalTrials) | |||
Critères
Femme
Inclusion Criteria:
Patients in the exposed group:
- Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from
spontaneous pregnancy or by medical assistance to procreation.
- Age ≥ 18 years
- Affiliated with a social security or beneficiary scheme
- Desire for natal screening of T21, not yet realized
- Patient with a condition on the following list: [see Chapter 7.2]
Patients in the unexposed group:
- Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from
spontaneous pregnancy or by medical assistance to procreation.
- Age ≥ 18 years
- Affiliated with a social security or beneficiary scheme
- Desire for natal screening of T21, not yet realized
- No pathology that meets the list mentioned in the above section
- Clinically asymptomatic patient with no clinical symptoms suggestive of AID:
arthralgias, skin or mucous disease, dry syndrome, Raynaud syndrome, purpura.
- Patient respecting frequency pairing
Patients in the exposed group:
- Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from
spontaneous pregnancy or by medical assistance to procreation.
- Age ≥ 18 years
- Affiliated with a social security or beneficiary scheme
- Desire for natal screening of T21, not yet realized
- Patient with a condition on the following list: [see Chapter 7.2]
Patients in the unexposed group:
- Single-fetal pregnancy with a term between 11 and 13-6 weeks of amenorrhea (SA) from
spontaneous pregnancy or by medical assistance to procreation.
- Age ≥ 18 years
- Affiliated with a social security or beneficiary scheme
- Desire for natal screening of T21, not yet realized
- No pathology that meets the list mentioned in the above section
- Clinically asymptomatic patient with no clinical symptoms suggestive of AID:
arthralgias, skin or mucous disease, dry syndrome, Raynaud syndrome, purpura.
- Patient respecting frequency pairing
- BMI > 35 kg/cm2
- Multiple pregnancy
- No first trimester ultrasound (between 11 and 13-6 SA)
- Screening for unwanted T21
- Patients already included in an interventional research protocol
- Morphological abnormalities on first trimester ultrasound and/or nucal clarity -
3.5mm
- Patient under the protection of justice