Clinical trial · Observational
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
- Source
- ClinicalTrials.gov
- Retrieved
- Sep 8, 2026
- Layer
- normalized (units and labels harmonized; values unchanged)
- Run
- ING-CLINICALTRIALS-20260908-000001
Summary
Brief summary (as posted)
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
Conditions (15)
Free-text conditions as registered, with the CancerIndex entity they were reconciled to and the match type.
| Condition (as posted) | Mapped entity | Match | Confidence |
|---|---|---|---|
| Autosomal Recessive Polycystic Kidney Disease | — | UNRESOLVED | — |
| Cystic Fibrosis | — | UNRESOLVED | — |
| Fragile X Syndrome | — | UNRESOLVED | — |
| Hemophilia A | — | UNRESOLVED | — |
| Hemophilia B | — | UNRESOLVED | — |
| Huntington Disease | — | UNRESOLVED | — |
| Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders, Including | — | UNRESOLVED | — |
| MODY2 Diabetes | — | UNRESOLVED | — |
| Muscular Dystrophy, Becker | — |
Interventions
Interventions (1)
| Intervention | Type | Mapped drug | Match |
|---|---|---|---|
| Blood sample | Biological | — | UNRESOLVED |
Design
Arms and outcomes
Arms (2)
- label
- pregnant women undergoing invasive PND in a context of family history of SGD
- description
- 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.
- interventionNames
- Biological: Blood sample
- label
- pregnant women undergoing prenatal counselling in a context of maternal history of diabetes MODY-GCK
- interventionNames
- Biological: Blood sample
Primary outcomes (2)
- measure
- % of affected/unaffected fetuses that were correctly classified as affected/unaffected
- timeFrame
- 1 day
- description
- respectively among conclusive results
Eligibility
Eligibility (as posted)
- Sex
- Female
- Minimum age
- 18 Years
Show eligibility criteria text
Inclusion Criteria: * 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 Exclusion Criteria: * at risk of SGD involving a de novo pathogenic mutation in a previous child * woman under legal protection
References
Publications (1)
- BACKGROUNDPacault M, Verebi C, Champion M, Orhant L, Perrier A, Girodon E, Leturcq F, Vidaud D, Ferec C, Bienvenu T, Daveau R, Nectoux J. Non-invasive prenatal diagnosis of single gene disorders with enhanced relative haplotype dosage analysis for diagnostic implementation. PLoS One. 2023 Apr 24;18(4):e0280976. doi: 10.1371/journal.pone.0280976. eCollection 2023. PMID 37093806