Comparison of the Non-invasive Approach and Fetal Exome Sequencing in Prenatal Diagnosis When Fetal Ultrasound Signs Are Discovered

family history, clinical data, ultrasound and all other data necessary for the study on a e-CRF (CleanWEB), allowing the collection of the family tree, and if necessary photographic elements.

"Collected during fetal and blood sampling performed as part of care for ACPA:~* 4 Streck tubes maximum for the pregnant woman for NIPD-Exome, collected prior to invasive fetal sampling~* 1 additional vial of fetal sample (amniotic fluid or fetal blood) and 1 EDTA tube for each of the two parents"

within the framework of the pilot study (optional): questionnaires (about 20 minutes) for the evaluation of the experience, perceptions, impact of the analyses on the decision, satisfaction and concerns regarding exome sequencing (ES) and its results, opinion on certain types of results currently not reported, anxiety, possible psychological difficulties

as part of the pilot study (optional): interview (about 1 hour) with a sociologist to explore perceptions of ES and the impact of the results, expectations about certain types of results that are not currently available, emotional situation, position regarding the continuation of the pregnancy

Interview (approximately 45 minutes) to understand how the decision is formed Focus groups to help clarify whether the Variants of Unknown Significance (VUSs) should potentially be returned to the clinicians, or even the patient via the clinician