"Circulating Fetal DNA, Pregnancy And Immune Diseases"

2019-11-12 18:25:33 | BioPortfolio


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.


Circulating fetal DNA (cfDNA) in maternal blood is now routinely used for prenatal screening for Down syndrome 21 (T21). In about 1% of cases, the test result is not contributory (NC). The investigator's team recently found, in a retrospective study, an association between the existence of an autoimmune disease (AID) and a high risk of NC. However, this was only a subgroup analysis, requiring confirmation by a dedicated study. Tests using deoxyribonucleic Care (dNCare) are becoming more widespread, so 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.

The main objective of this study is to compare the rate of NC in a population of patients with DIA to that of a population of patients without MAI when screened for T21 by the cfDNA study in the first trimester of pregnancy.

The secondary objectives are :

- To assess the performance of fetal cfDNA for T21 screening in the population of PATIENTS with AID and to compare them with performance in the non-auto immune disease population.

- To assess the performance of the combined first trimester screening for T21 screening and compare it with those of fetal cfDNA in the population of patients with AID.

- In patients with an NC result, analysis of the distribution of fetal fractions according to the presence and severity of maternal autoimmune pathologies. The distribution will be compared to that of the control population.

- To assess the association between fetal fraction and the occurrence of vascular complications of pregnancy in both groups with and without auto immune disease.

AFFEPI is a prospective multicenter, interventional, exposed/non-exposed cohort study

There are two group :

Exposed group: Any patient with a auto immune disease followed at one of the 14 centres who wants to be screened for T21.

Unexposed group: Patients who do not carry an auto immune disease identified at the interview (no history of auto immune disease; no symptoms suggestive of a auto immune disease).

Study Design


Autoimmune Diseases


the detection of the risk of fetal trisomy 21 by blood tests : free fetal DNA circulant analysis


Hôpital Antoine Béclère
Ile De France


Not yet recruiting


Assistance Publique - Hôpitaux de Paris

Results (where available)

View Results


Published on BioPortfolio: 2019-11-12T18:25:33-0500

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