Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Recruiting now
Conditions studied: Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including, Sickle Cell Disease, Cystic Fibrosis, Fragile X Syndrome, Proximal Spinal Muscular Atrophy, Myotonic Dystrophy, Muscular Dystrophy, Duchenne, Muscular Dystrophy, Becker, Neurofibromatosis-Noonan Syndrome, Huntington Disease, Hemophilia A, Hemophilia B, MODY2 Diabetes, X-Linked Hydrocephalus, Autosomal Recessive Polycystic Kidney Disease
In brief
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.
Key facts
- Study ID
- NCT06147414
- Run by
- Assistance Publique - Hôpitaux de Paris
- People needed
- 550
- Starts
- 2024-10-23
- Expected to finish
- 2027-05-01
- Last updated by the study team
- 2026-04-23
Who can join
Age: 18 and older. Sex: female. Healthy volunteers: not accepted.
You may qualify if…
- 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, 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
You may not qualify if…
- at risk of SGD involving a de novo pathogenic mutation in a previous child
- woman under legal protection
Where it is running
- Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique — Paris, France (enrolling)
Full record on ClinicalTrials.gov
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