149
Participants
Start Date
June 20, 2019
Primary Completion Date
December 20, 2021
Study Completion Date
January 25, 2024
Invasive fetal sampling, blood sampling of mother and father
to perform an exome sequencing analysis in trio
blood sampling from the mother to recover the circulating cell free fetal DNA
to perform a sequencing analysis of the genome of circulating free fetal DNA
Parent interviews (optional organizational study)
Interview with a sociologist or psychologist to explore perceptions of ES and the impact of the results, expectations regarding certain types of results not currently available, the emotional situation, and position regarding the continuation of the pregnancy At 4 different times: at inclusion, at the time of the CGA-array results, at the time of the ES results and at a distance from the ES results
parent questionnaire (optional organizational study)
To evaluate the experience, perceptions, the impact of the analyses on the decision, satisfaction and concerns regarding the ES and its results, opinions on certain types of results not currently available, as well as anxiety and possible psychological distress At 4 different points in time: at inclusion, at the delivery of the CGA-array results, at the delivery of the ES results and at a distance from the delivery of the ES results
professional interviews (optional organizational study)
interview to understand how the decision is formed
Focus group for professionals (optional organizational study)
interview to specify whether variants of unknown significance) VUS will potentially be returned to the clinicians, or even to the patient via the clinician.
CHU Dijon Bourgogne, Dijon
Centre Hospitalier Universitaire Dijon
OTHER