Preimplantation Genetic Diagnosis, Prenatal Diagnoses
Conditions
Brief summary
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).
Interventions
Blood sampling.
Sponsors
Arcedi Biotech
Aarhus University Hospital
Viborg Regional Hospital
Horsens Hospital
Randers Regional Hospital
Kolding Sygehus
Rigshospitalet, Denmark
Aalborg University Hospital
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* Achieved pregnancy following preimplantation genetic testing
Exclusion criteria
* None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Agreement between cbNIPT and CVS (The gold standard) | Immidiately after the results from cbNIPT and CVS has been obtained | How do the cbNIPT results compare to the results of the genetic test following CVS |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Effectiveness of fetal cell isolation | Immidiately after genetic testing of the isolated fetal cells | How large a fraction of the potential fetal cells isolated is verified by genetic testing to be of fetal origin. |
| Effectiveness of testing the genetic variant of interest | Immidiately after genetic testing of the isolated fetal cells | 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. |
Countries
Denmark
Outcome results
None listed