Non-invasive prenatal diagnosis for single gene disorders

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

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.

Why it matters

Who can join: the full rules

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 it's running

• 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

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How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.