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Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Researching new ways to detect genetic disorders during pregnancy.

Recruiting
18 years and older
Female
Phase N/A

Non-Invasive Prenatal Diagnosis for Single Gene Disorders (SGD-NIPD) is a way to check for certain genetic conditions in a baby before birth without using risky procedures. It uses cell-free fetal DNA (cffDNA), which is tiny bits of the baby's DNA that float in the mother's blood. This method can be done as early as 9 weeks into pregnancy and helps avoid the risk of miscarriage. However, the test is challenging because it must pick out the baby's DNA from the mother's DNA. Researchers in France are working to improve this test so it can be used for any genetic disorder.

  • Study Length: The test results are ready in about 5-6 working days.
  • Eligibility: Pregnant women 18 years or older, with a single baby, and a family history of certain genetic conditions.
  • Risks: The test is non-invasive and does not pose the miscarriage risk of traditional tests.
Study details
    Invasive PreNatal Diagnosis in a Context of Family History of Single-gene Disorders
    Including
    Sickle Cell Disease
    Cystic Fibrosis
    Fragile X Syndrome
    Proximal Spinal Muscular Atrophy
    Myotonic Dystrophy
    Muscular Dystrophy
    Duchenne
    Muscular Dystrophy
    Becker
    Neurofibromatosis-Noonan Syndrome
    Huntington Disease
    Hemophilia A
    Hemophilia B
    MODY2 Diabetes
    X-Linked Hydrocephalus
    Autosomal Recessive Polycystic Kidney Disease

NCT06147414

Assistance Publique - Hôpitaux de Paris

17 April 2026

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