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Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Recruitingn/aAges 18 Years - anyFemaleAssistance Publique - Hôpitaux de Paris
NCT06147414 on ClinicalTrials.gov ↗
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In plain words

What the trial is, and whether it could suit you

Cell-free fetal DNA (cffDNA) is present in the maternal blood from the early first trimester of gestation and makes up 5%-20% of the total circulating cell-free DNA (cfDNA) in maternal plasma. Its presence in maternal plasma has allowed development of noninvasive prenatal diagnosis for single-gene disorders (SGD-NIPD). This can be performed from 9 weeks of amenorrhea and offers an early, safe and accurate definitive diagnosis without the miscarriage risk associated with invasive procedures. One of the major difficulties is distinguishing fetal genotype in the high background of maternal cfDNA, which leads to several technical and analytical challenges. Besides, unlike noninvasive prenatal testing for aneuploidy, NIPD for monogenic diseases represent a smaller market opportunity, and many cases must be provided on a bespoke, patient- or disease-specific basis. As a result, implementation

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📋 Eligibility rules (as published)
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
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What it tests

  • Blood sample
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Where

1 site
Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique
Paris, France
🤝 Taking part is your choice, and you can leave at any time. Only the trial team can confirm you are eligible — always decide together with your own doctor.
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