"ANDDI-PRENATOME - Feasibility Study for a Fast Pangenomic High Throughput Sequencing Analysis in Prenatal Diagnosis"

CompletedOBSERVATIONAL
Enrollment

149

Participants

Timeline

Start Date

June 20, 2019

Primary Completion Date

December 20, 2021

Study Completion Date

January 25, 2024

Conditions
PrenatalGenome-wide High Throughput Sequencing
Interventions
BIOLOGICAL

Invasive fetal sampling, blood sampling of mother and father

to perform an exome sequencing analysis in trio

BIOLOGICAL

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

OTHER

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

OTHER

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

OTHER

professional interviews (optional organizational study)

interview to understand how the decision is formed

OTHER

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.

Trial Locations (1)

21079

CHU Dijon Bourgogne, Dijon

All Listed Sponsors
lead

Centre Hospitalier Universitaire Dijon

OTHER

NCT03964441 - "ANDDI-PRENATOME - Feasibility Study for a Fast Pangenomic High Throughput Sequencing Analysis in Prenatal Diagnosis" | Biotech Hunter | Biotech Hunter