Status:
RECRUITING
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including
Sickle Cell Disease
Eligibility:
FEMALE
18+ years
Brief Summary
Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its pre...
Detailed Description
Since the identification of cffDNA in maternal plasma in 1997, there have been rapid developments in exploiting its presence for prenatal diagnosis and screening. The first proof of principle studies ...
Eligibility Criteria
Inclusion
- pregnant woman with 9 weeks of amenorrhea or more
- singleton pregnancy
- undergoing invasive PND in a context of family history of SGD involving the following genes : HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1, ATP7A or undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK
- germinal pathogenic paternal and/or maternal mutations previously identified
- age 18 years old or over
- signing an informed consent
Exclusion
- at risk of another SGD
- at risk of SGD involving a de novo pathogenic mutation in a previous child
- woman under legal protection
Key Trial Info
Start Date :
October 23 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
May 1 2027
Estimated Enrollment :
550 Patients enrolled
Trial Details
Trial ID
NCT06147414
Start Date
October 23 2024
End Date
May 1 2027
Last Update
November 7 2024
Active Locations (1)
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1
Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique
Paris, France, 75014