Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders

Conditions

• 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

Interventions

• BIOLOGICAL: Blood sample

Sponsor

Assistance Publique - Hôpitaux de Paris

Collaborators

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