Actively Recruiting
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Led by Assistance Publique - Hôpitaux de Paris · Updated on 2026-04-23
550
Participants Needed
1
Research Sites
131 weeks
Total Duration
On this page
Sponsors
A
Assistance Publique - Hôpitaux de Paris
Lead Sponsor
U
URC-CIC Paris Descartes Necker Cochin
Collaborating Sponsor
AI-Summary
What this Trial Is About
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.
CONDITIONS
Official Title
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Who Can Participate
Eligibility Criteria
You may qualify if you...
- Pregnant woman with 9 weeks of amenorrhea or more
- Singleton pregnancy
- Undergoing invasive prenatal diagnosis due to family history of single-gene disorders involving genes such as HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, PKHD1 or prenatal counseling for maternal history of MODY-GCK diabetes
- Germinal pathogenic paternal and/or maternal mutations previously identified
- Age 18 years or older
- Signed informed consent
You will not qualify if you...
- Risk of single-gene disorder involving a de novo pathogenic mutation in a previous child
- Woman under legal protection
AI-Screening
AI-Powered Screening
Complete this quick 3-step screening to check your eligibility
Trial Site Locations
Total: 1 location
1
Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique
Paris, France, 75014
Actively Recruiting
Research Team
J
Juliette NECTOUX, MD,PhD
CONTACT
C
Christelle AUGER
CONTACT
How is the study designed?
Study Type
OBSERVATIONAL
Masking
N/A
Allocation
N/A
Model
N/A
Primary Purpose
N/A
Number of Arms
2
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