Non-Invasive Prenatal Exclusion Diagnosis for Severe Monogenic Disorders
Official title: Health Economic Evaluation of Non-Invasive Prenatal Exclusion Diagnosis
Run by Assistance Publique - Hôpitaux de Paris · NCT07469657 · Data updated 2026-11-12
This study checks if a blood test using fetal DNA from mom can help identify or exclude certain severe monogenic disorders without invasive procedures, for couples at risk.
Quick facts
| Study type | Observational |
|---|---|
| Ages | 18 Years and up |
| Sex | All |
| Enrollment | 300 (estimated) |
| Sponsor | Assistance Publique - Hôpitaux de Paris Academic / other |
| Locations | 1 site (Paris, Île-de-France Region) |
| Status | Recruiting |
| Started | March 26, 2026 |
| Main results expected | May 2029 |
| Study ends | May 2029 |
| Registry record updated | August 10, 2026 |
| Trial ID | NCT07469657 on ClinicalTrials.gov |
Is this trial a fit for you?
✓Likely a good fit
Couples where the pregnant person is at least 18 years old, at least 7 weeks pregnant, and has a confirmed indication for invasive or PCR-based NIPD for a severe monogenic disorder, with a causative gene covered by the Agilent V8 kit.
✕Probably not a fit
Pregnancies where the causative gene is not covered by the exome capture kit or where results would not impact clinical management may derive no direct benefit.
A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.
What this trial studies
This observational study analyzes the costs and practicalities of next-generation sequencing–based non-invasive prenatal diagnosis (NIPD) for severe monogenic conditions. It uses a real-life setting to estimate turnaround times and expenses while ensuring results do not alter clinical management or disclosure to patients. The NIPD is performed in trio or quartet formats, incorporating exome sequencing of ccffDNA and parental genomic DNA, with samples collected during routine prenatal care. Inclusion requires at least 7 weeks of gestation and a confirmed indication for invasive testing or PCR-based NIPD, with causative genes covered by the Agilent V8 exome kit. The study focuses on feasibility, cost, and logistical considerations in a French tertiary care context.
Why it matters
Potential benefit: If successful, the approach could clarify which pregnancies are at risk for certain severe monogenic disorders without additional invasive testing, potentially reducing unnecessary procedures and guiding future diagnostic options.
How similar studies have gone: Previous studies have explored NIPD approaches, but this project specifically evaluates real-world costs and turnaround times for NGS-based exclusion diagnostics in France, which remains relatively novel.
Who can join: the full rules
Show full inclusion / exclusion criteria
Inclusion Criteria: * Couple aged over 18 years * Ongoing pregnancy of at least 7 weeks gestational age * Requesting, within clinical care, invasive prenatal diagnosis or PCR-based NIPD for a particularly severe monogenic disorder, with indication confirmed by a Multidisciplinary Prenatal Diagnosis Center (CPDPN) * Eligible for exclusion diagnosis * Causative gene covered by the Agilent V8 exome capture kit * Affiliated with the national general social security system * Informed consent obtained from the pregnant woman and her partner Exclusion Criteria: * Prenatal diagnosis request not approved by a Multidisciplinary Prenatal Diagnosis Center (CPDPN) * Disorder not analyzable by next-generation sequencing (e.g., triplet repeat expansions, sequence homology) * Woman carrying the pathogenic variant * Woman or partner deprived of liberty, under guardianship or curatorship * Index case other than the father, a child, or a fetus from a previous pregnancy within the couple.
Where it's running
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Hôpital Necker Enfants Malades
Paris, Île-de-France Region, France Recruiting
Study contacts
- Principal investigator: Julie STEFFANN, MD,PhD — Hôpital Universitaire Necker - Enfants Malades
- Study coordinator: Julie STEFFANN, MD, PhD
- Email: julie.steffann@aphp.fr
- Phone: 01 44 38 17 47
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How to take part
- Review the eligibility criteria above with your treating physician.
- Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
- Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.