Preimplantation Genetic Testing: Assessment and Improvement of Clinical Practice

This thesis contains research work done within the field of preimplantation genetic testing (PGT) for hereditary disorders at the Center of Preimplantation Genetic Testing at Aalborg University Hospital. A short introduction to the five included studies is provided below.
Study I details a systematic review of concurrent PGT for hereditary disorders and aneuploidy, assessing the extent to which aneuploidy is reported and affects clinical results during PGT.
Study II describes our evaluation of cell-based non-invasive prenatal testing as an alternative to invasive chorionic villous sampling following PGT for monogenic disorders.
Study III describes our work establishing a cell culture assay capable of supporting the growth and division of biopsied trophectoderm cells as an alternative method of whole genome DNA amplification prior to genetic testing for hereditary disorders.
Study IV comments on our work of assessing and evaluating clinical outcomes, including cumulative pregnancy rates, as well as factors affecting the chance of achieving pregnancy during PGT for hereditary disorders at our center.
Study V contains the results from a questionnaire aiming to investigate which factors govern and affect patients’ decisions regarding prenatal testing following pregnancy after PGT for hereditary disorders.