Genetic Disorders in Pregnancy Clinical Trial
Official title:
Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities
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.
n/a
| Status | Clinical Trial | Phase | |
|---|---|---|---|
| Recruiting |
NCT05216068 -
Investigation and Diagnosis of the Chromosome Variation in Donated/Abandoned Blastocyst
|
N/A |