Cell-based Non-invasive Prenatal Testing as an Alternative to Invasive Chorionic Villus Sampling

Cell-based Non-invasive Prenatal Testing - Evaluation of Time of Blood Sampling and Whole Genome Amplification Prior to Genetic Testing

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

Inclusion Criteria:

• Pregnancy following preimplantation genetic testing

Exclusion Criteria:

• None