DEFI: Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
Study Details
Study Description
Brief Summary
The aim of this study is to evaluate performances of a NIPT test based onto the study of the maternal blood to search known genetic mutations already detected in the family and potentially inherited by the fetus. This test will avoid an invasive prenatal diagnosis in those families with a known genetic risk.
The performance of this test will be evaluated in terms of sensitivity and specificity with an adapted statistic model.
Secondary objectives of the protocol are
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To adapt NIPT to small DNA quantity (5-50 ng)
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To adapt bioinformatics pipeline to low rate of mosaicism
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To develop a tool to quantify the fetal fraction
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To evaluate the robustness of the method
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
| Condition or Disease | Intervention/Treatment | Phase |
|---|---|---|
|
N/A |
Study Design
Arms and Interventions
| Arm | Intervention/Treatment |
|---|---|
| Experimental: couple : man and pregnant women
|
Diagnostic Test: NIPT Test
This test is based onto capture and high throw put sequencing adapted to cell free plasmatic DNA of pregnant women in order to detect point mutation present in her fetus. This approach has been previously described for others clinical applications such as liquid biopsy in cancers but not for NIPT analysis.
|
Outcome Measures
Primary Outcome Measures
- Detection yield of fetal paternally transmitted single nucleotid variations (SNV) in free cell maternal DNA Absence of non fetal paternally transmitted single nucleotid variations (SNV) in maternal free cell DNA (cfDNA) [Measurement will be performed at the end of the protocol (12 months)]
Secondary Outcome Measures
- Comparison of SNV detection efficiency of several bioinformatics pipeline Robustness evaluation in function of - Fetal percent in cfDNA - Genomic region - Initial input of cfDNA [Measurement will be performed at the end of the protocol (12 months)]
Eligibility Criteria
Criteria
Inclusion Criteria:
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Couple (father, mother) > 18 ans
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Pregnant woman (> 12-15 weeks of gestation) with a fetal sampling needed in standard care.
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informed consent obtained
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couple affiliated to the social insurance in France
Exclusion Criteria:
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DNA extraction failure
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Absence of informed consent
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Father or mother placed under judicial protection or under guardianship or tutorship
Contacts and Locations
Locations
| Site | City | State | Country | Postal Code | |
|---|---|---|---|---|---|
| 1 | Hôpitaux Universitaires de Strasbourg | Strasbourg | France |
Sponsors and Collaborators
- University Hospital, Strasbourg, France
Investigators
None specified.Study Documents (Full-Text)
None provided.More Information
Publications
None provided.- 6792