The study aims to evaluate cell-based non-invasive prenatal testing (cbNIPT) as an alternative to invasive chorionic villus sampling (CVS) in patients who achieve pregnancy following preimplantation genetic testing for hereditary disorders.
The study has three main objects: 1. to evaluate the optimal time of blood sampling (gestational week 7-8 or 11-14) 2. to evaluate whole genome amplification prior to genetic analysis og isolated fetal cells (only relevant for monogenic disorders) 3. evaluating specificity and sensitivity
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
48
DNA is amplified by whole genome amplification
Fertility Unit, Aalborg University Hospital
Aalborg, Denmark
Evaluation of the fetal cell yield when blood sampling is performed at Gestational weeks 7-8 compared to gestational weeks 11-14.
Evaluation of whether cbNIPT be performed in gestational week 7-8.
Time frame: Within 2 years
Percentage of test with an informative test result from genetic testing following whole genome amplification or direct testing without whole genome amplification.
Analysis of whether genetic testing on whole genome amplified material is inferior to genetic testing directly on DNA purified from single cells.
Time frame: Within 2 years (since data analysis is carried out later than sample collection)
Specificity and sensitivity of single cell analysis.
Evaluation of the sensitivity and specificity of single cell analysis.
Time frame: Within 2 years
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