Non Invasive Prenatal Test of Rare Genetic Diseases: Application to Rare Intellectual Disabilities

  • STATUS
    Not Recruiting
  • participants needed
    60
  • sponsor
    University Hospital, Strasbourg, France
Updated on 22 January 2021

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.

Details
Condition Genetic Disorders in Pregnancy
Treatment NIPT Test
Clinical Study IdentifierNCT03688594
SponsorUniversity Hospital, Strasbourg, France
Last Modified on22 January 2021

Similar trials to consider

Loading...

Not finding what you're looking for?

Every year hundreds of thousands of volunteers step forward to participate in research. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.

Sign up as volunteer

user name

Added by • 

 • 

Private

Reply by • Private
Loading...

Lorem ipsum dolor sit amet consectetur, adipisicing elit. Ipsa vel nobis alias. Quae eveniet velit voluptate quo doloribus maxime et dicta in sequi, corporis quod. Ea, dolor eius? Dolore, vel!

  The passcode will expire in None.
Loading...

No annotations made yet

Add a private note
  • abc Select a piece of text from the left.
  • Add notes visible only to you.
  • Send it to people through a passcode protected link.
Add a private note