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
Simple summaryAI-assisted
This summary is produced by a language model and is experimental. It may be incomplete or inaccurate and is not a substitute for professional medical advice.
Locations
Hôpital Cochin, Maternité Port-Royal, service de Gynécologie obstétrique, Paris, France
Study leads
Juliette NECTOUX, MD,PhD
Principal Investigator
Assistance Publique - Hôpitaux de Paris
Thierry BIENVENU
Study Director
Assistance Publique - Hôpitaux de Paris