The study aims to investigate whether cell-based non-invasive prenatal testing (cbNIPT) can be used as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for monogenic disorders (PGT-M).
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
8
Blood sampling.
Fertility Unit, Aalborg University Hospital
Aalborg, Denmark
Agreement between cbNIPT and CVS (The gold standard)
How do the cbNIPT results compare to the results of the genetic test following CVS
Time frame: Immidiately after the results from cbNIPT and CVS has been obtained
Effectiveness of fetal cell isolation
How large a fraction of the potential fetal cells isolated is verified by genetic testing to be of fetal origin.
Time frame: Immidiately after genetic testing of the isolated fetal cells
Effectiveness of testing the genetic variant of interest
How often does the test on a fetal cell yield a result that allows determination of the mutational status of the embryo with respect to the genetic variant of interest.
Time frame: Immidiately after genetic testing of the isolated fetal cells
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