Non-invasive prenatal diagnosis for single gene disorders
Evaluation of the Diagnostic Performance of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
This study is testing a new way to safely diagnose single-gene disorders in unborn babies using a simple blood test from the mother, starting as early as 9 weeks into the pregnancy.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 550 (estimated) |
| Ages | 18 Years and up |
| Sex | Female |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris) |
| Trial ID | NCT06147414 on ClinicalTrials.gov |
What this trial studies
This study focuses on the development of non-invasive prenatal diagnosis (NIPD) for single-gene disorders using cell-free fetal DNA (cffDNA) found in maternal blood. It aims to provide a safe and accurate diagnosis from as early as 9 weeks of gestation, avoiding the risks associated with invasive procedures. The study addresses the technical challenges of distinguishing fetal genotype from maternal cfDNA and seeks to implement SGD-NIPD more widely, as current testing is often limited to research settings. By optimizing detection techniques, the study hopes to reduce parental anxiety and improve decision-making for expectant parents.
Who should consider this trial
Good fit: Ideal candidates include pregnant women with a singleton pregnancy who are at least 9 weeks along and have a family history of single-gene disorders.
Not a fit: Patients who are at risk of another single-gene disorder or those with a de novo pathogenic mutation in a previous child may not benefit from this study.
Why it matters
Potential benefit: If successful, this approach could provide early and definitive diagnoses for single-gene disorders without the risk of miscarriage.
How similar studies have performed: While non-invasive prenatal testing for aneuploidies is widely used, the approach for single-gene disorders is less common and represents a novel area of investigation.
Eligibility criteria
Show full inclusion / exclusion criteria
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
Where this trial is running
Paris
- Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique — Paris, France (Recruiting)
Study contacts
- Principal investigator: Juliette NECTOUX, MD,PhD — Assistance Publique - Hôpitaux de Paris
- Study coordinator: Juliette NECTOUX, MD,PhD
- Email: juliette.nectoux@aphp.fr
- Phone: 01 58 41 11 86
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.