DEPIST 21: Information and knowledge of pregnant women about screening strategies including non-invasive prenatal testing for Down syndrome

Abstract

Objective: To evaluate the knowledge of pregnant women and provide information about Down syndrome (DS) screening, including non-invasive prenatal testing (NIPT).

Materials and methods: A prospective unicenter study of pregnant women recruited during their first trimester foetal ultrasound was carried out. Single pregnancies from 11 to 17 + 6 weeks of amenorrhoea (SA) without a history of DS were included. "Pre" and "post" questionnaire were fulfilled before and after the consultation. Patient characteristics, prior information, information provided during the consultation, and patient satisfaction were also analysed.

Results: A total of 273 were included in the study, and 147 completed surveys (pre and post) were examined. In pre-consultation, 82 % of women know that integrated screening includes maternal serum markers and nuchal translucency (n = 103). Concerning NIPT for DS, 8% (n = 11) of women declare having been informed before the ultrasound. A minority of patients know modalities of reimbursement (n = 33, 26 %) and invasive sampling is mandatory for diagnosis when NIPT is positive (n = 37, 28 %). Significant improvement in right answers was obtained for three questions: "nuchal translucency is included in the combined screening test for DS" (p = 0,007); "blood serum markers is included in the combined screening for DS" (p = 0,009) and advanced maternal age increases risk for DS" (p = 0,004). Total score in the post questionnaire was significantly higher than the "pre" consultation questionnaire (14,7 ± 2.8 versus 14,1 ± 2.9; p = 0.01).

Conclusion: Patients show a high level of knowledge on screening strategies for DS in pre-consultation. They benefit from the consultation on global knowledge, NIPT, and ultrasound notions.

Keywords: Cell-free DNA; Down syndrome; Knowledge; NIPT; Testing; Trisomy 21.