Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Status: Recruiting
Location: See location...
Intervention Type: Biological
Study Type: Observational
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 presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation of SGD-NIPD remained sparse, with most testing being delivered in a research setting. The present project aims to take advantage of the unique French collaborative network to make SGD-NIPD possible for theoretically any monogenic disorder and any family.

Eligibility
Participation Requirements
Sex: Female
Minimum Age: 18
Healthy Volunteers: f
View:

• 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

Locations
Other Locations
France
Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique
RECRUITING
Paris
Contact Information
Primary
Juliette NECTOUX, MD,PhD
juliette.nectoux@aphp.fr
+33 1 58 41 16 22
Backup
Christelle AUGER
christelle.auger@aphp.fr
+33 1 58 41 11 86
Time Frame
Start Date: 2024-10-23
Estimated Completion Date: 2027-05
Participants
Target number of participants: 550
Treatments
pregnant women undergoing invasive PND in a context of family history of SGD
SGD-NIPD will be proposed by CPDPN recruitment centres to pregnant women undergoing invasive PND in a context of family history of SGD because of parental pathogenic mutation.s in one of the following gene: HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1 or ATP7A
pregnant women undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK
Sponsors
Leads: Assistance Publique - Hôpitaux de Paris

This content was sourced from clinicaltrials.gov