Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

RecruitingOBSERVATIONAL
Enrollment

550

Participants

Timeline

Start Date

October 23, 2024

Primary Completion Date

May 31, 2027

Study Completion Date

May 31, 2027

Conditions
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, IncludingSickle Cell DiseaseCystic FibrosisFragile X SyndromeProximal Spinal Muscular AtrophyMyotonic DystrophyMuscular Dystrophy, DuchenneMuscular Dystrophy, BeckerNeurofibromatosis-Noonan SyndromeHuntington DiseaseHemophilia aHemophilia BMODY2 DiabetesX-Linked HydrocephalusAutosomal Recessive Polycystic Kidney Disease
Interventions
BIOLOGICAL

Blood sample

"A blood sample (50 ml) will be taken in care of prenatal diagnosis and 40 ml will be used for study.~The 40 mL of blood needed for the research will be collected on BCT tubes (4 tubes).~During the study, in centers, the plasma samples will be stored at room temperature and will be sent to the laboratory within 24 hours (no centrifugation in centers).~The plasma samples will be then temporarily stored at -80°C in each co-investigating laboratory under the supervision of lab supervisor until the analysis. cfDNA will be extracted from the whole plasma sample before each sequencing run and stored à +4°C until the cfDNA sequencing."

Trial Locations (1)

75014

RECRUITING

Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique, Paris

All Listed Sponsors
lead

Assistance Publique - Hôpitaux de Paris

OTHER