Non Invasive Prenatal Diagnosis (NIPD) on circulating fetal trophoblastic cells (CFTC) for Triplet Repeat Diseases
Completed
ABOUT
SPONSOR
University Hospital, Montpellier
PARTICIPANTS
60
The main objective of DIACCIMEX is to develop and validate an analytical and clinical Non-Invasive Prenatal Diagnosis (NIPD) test for triplet repeat diseases by isolated circulating fetal trophoblastic cells (CFTC) analysis from maternal blood, searching for the familial mutation in families at risk of having one of the following triplet repeat diseases: Huntington’s disease, Steinert Myotonic dystrophy, Fragile X syndrome, spinocerebellar ataxia (SCA) 1, 2 and 3.
pregnant woman between 9 and 34 weeks of gestation
Couple at risk (based on family history or echographic findings) for one of the following diseases: Huntington’s disease, Steinert’s myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3
Written informed consent was obtained for the study
Prenatal diagnosis has been programmed for the current pregnancy during which maternal blood is collected
Couple molecular diagnosis results for one of the following diseases (Huntington’s disease, Steinert’s myotonic dystrophy, fragile X and spinocerebellar ataxias 1, 2 or 3 )
Exclusion Criteria
Couple Genomic DNA are unavailable
Subjects at risk of transmitting the family disease, but not wishing to know their molecular status