Can triploidy be detected through non-invasive prenatal testing?
Client :
Liquid Themes
Can triploidy be detected through non-invasive prenatal testing?
Project summary
Triploidy is a lethal abnormality where a fetus has an extra set of 23 chromosomes. Early detection is needed to accelerate medical decisions and limit complications. Non-invasive prenatal testing (NIPT) is used nation-wide to detect chromosomal abnormalities during early pregnancy, by detecting placental DNA in the mother’s bloodstream. I propose that triploidy can be detected through NIPT. As triploidy arises from the mother or the father, I will use nation-wide NIPT data to test whether triploidy is detectable by estimating which DNA fragments derive from which parent.
Impact
If succesful, early detection of triploidy would become possible through existing routine testing.
More detailed information
Principal Investigator:
dr. Sander Lamballais
Role Erasmus MC:
PI
Department:
Klinische Genetica
Project website:
Funding Agency:
NWO