CompletedNot Applicable

NIPD on CFTC for Triplet Repeat Diseases

France60 participantsStarted 2017-06-12

Plain-language summary

The purpose of this study is to develop and validate an analytical and clinical 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.

Who can participate

Age range18 Months

SexFEMALE

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Inclusion Criteria: * older than 18 years old * 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 ) MUST BE AVAILABLE. Exclusion Criteria: * Couple Genomic DNA are unavailable * Subjects at risk of transmitting the family disease, but not wishing to know their molecular status * individuals under guardianship by court order

What they're measuring

Concordance rate between cell-based genetic non invasive prenatal test and gold standard prenatal test (choriocentesis or amniocentesis).

Timeframe: 30 months

Trial details

NCT IDNCT03087526

SponsorUniversity Hospital, Montpellier

Sponsor typeOTHER

Study typeINTERVENTIONAL

Primary completion2020-04-01