Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Plain-language summary

This study aims to develop a non-invasive prenatal diagnostic method for single gene disorders using a blood sample taken from the mother. It enrolls pregnant women aged 18 and older who have a family history involving genes such as HBB, CFTR, FMR1, SMN1, DMPK, DMD, NF1, HTT, F8, F9, GCK, L1CAM, or PKHD1. It is a study without a designated phase and is currently recruiting participants.

The summary above is a plain-language rendering of the official record. The original English title is shown for reference.

Trial details

Phase

N/A

Status

Recruiting

Sponsor

Assistance Publique - Hôpitaux de Paris

Intervention

Blood sample

Start date

10/23/2024

Estimated completion

5/1/2027

Countries

France

Related genes

Locations

• Paris, France

Eligibility criteria

Criteria are reproduced from the ClinicalTrials.gov record in the original English. Only the trial team can determine eligibility.

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