Development of Non-Invasive Prenatal Diagnosis for Single Gene Disorders
Recruiting
Observational Study
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
No Placebo Group
Every participant receives an active treatment — no one gets a placebo.
No Study Drug
Researchers observe your health over time — no experimental treatment is given.
At a Glance
- Age
- 18 and older
- Sex
- Female
- Study type
- Observational
- Participants needed
- 550 (estimated)
- Sponsor
- Assistance Publique - Hôpitaux de Paris · Other
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About This Trial
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 …
Trial Locations
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Eligibility Criteria
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 …
Contacts