Genetic Disorders in Pregnancy
Conditions
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 * To adapt NIPT to small DNA quantity (5-50 ng) * To adapt bioinformatics pipeline to low rate of mosaicism * To develop a tool to quantify the fetal fraction * 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.
Interventions
DIAGNOSTIC_TESTNIPT 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.
Sponsors
University Hospital, Strasbourg, France
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Couple (father, mother) \> 18 ans * Pregnant woman (\> 12-15 weeks of gestation) with a fetal sampling needed in standard care. * informed consent obtained * couple affiliated to the social insurance in France
Exclusion criteria
* DNA extraction failure * Absence of informed consent * Father or mother placed under judicial protection or under guardianship or tutorship
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 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
| Measure | Time frame |
|---|---|
| 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) |
Countries
France
Contacts
Primary ContactBénédicte GERARD, PharmD, PhD
Outcome results
None listed