Although almost all pregnant women receive information about prenatal screening for Down syndrome, less than half consider it really clear. A French study points to a major misunderstanding, particularly around the results of the non-invasive DNA test (DPNI), although it has been integrated into the care pathway since 2019.
Information widely disseminated, but poorly understood
In France, prenatal screening for Down syndrome is offered to all pregnant women, regardless of age or family history. In fact, 94.5% of women say they have received information from a health professional, according to a study published in the Journal of Gynecology Obstetrics and Human Reproduction.
But this almost systematic diffusion does not rhyme with understanding. Only 43.8% of participants believe that the information received was “very clear”. Less than a third consider it complete (29.9%) or sufficient (32.4%). A striking discrepancy, even though more than one in three women sought additional information elsewhere, via medical documents, the internet, social networks or discussions with loved ones.
An increasingly complex screening process
The national strategy is based on a sequential approach. As a first-line approach, combined screening of the first trimester – maternal age, measurement of nuchal translucency and serum markers – is carried out between 11 and 13 weeks + 6 days of pregnancy. An algorithm then makes it possible to estimate an individual risk.
Depending on this risk, the pregnant woman may be referred to an invasive diagnostic examination (in the event of a risk greater than 1/50), to non-invasive prenatal screening (NIPT) when the risk is intermediate, or to the absence of additional examination if the risk is low.
Introduced in 2019, NIPT — based on the analysis of fetal DNA circulating in maternal blood — has profoundly changed the course. Its extension to other chromosomal anomalies since September 2024 has further increased the complexity of the information to be transmitted, underline the authors of the study.
The DPNI, main point of confusion
To assess women’s actual understanding, researchers analyzed the responses of 2,146 participants to an online survey conducted in the summer of 2024. The median comprehension score reached just 2.6 out of 10.
The main difficulty concerns the interpretation of the NIPT results. Although the majority of women correctly identify the elements of the combined first trimester screening, many confuse screening and diagnosis. Only a minority understand that a positive NIPT result indicates an increased probability — not a certainty — of Down syndrome. Conversely, a negative result is often misinterpreted as complete elimination of risk.
For the authors, this persistent confusion highlights a major public health issue: improving communication tools and offering more personalized support, in order to guarantee a truly informed choice in a context where screening options are increasingly numerous and technical.