NCT06147414 · RECRUITING
Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
This study is developing a blood test for pregnant women that can detect single-gene disorders in a baby, such as cystic fibrosis or Huntington disease. It uses fetal DNA found in the mother's blood, so no needle into the womb is needed. The trial is checking how accurate the test is. No phase is listed, so this is early test development.
You may qualify if
- 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
You're excluded if
- at risk of SGD involving a de novo pathogenic mutation in a previous child
- woman under legal protection
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2026-04-23