Genome sequencing in prenatal testing and screening: Lessons learned from broadening the scope of prenatal genetics from conventional karyotyping to whole-genome microarray analysis

In this study we share our experiences with pregnant couples engaging in prenatal whole-genome microarray analysis. We extrapolate these experiences to understand what the use of prenatal whole exome sequencing (WES) may entail for the experiences and needs of pregnant couples and provide suggestions for adequate care. Our studies on informed decision-making about prenatal whole-genome microarray analysis show that pregnant couples greatly value their reproductive autonomy. Couples consistently voice the wish to be offered the opportunity to make their own decision about the scope of their prenatal genetic test and in our studies they generally prefer a broader scope of prenatal test results. Ambiguous test results represent an additional weight to the psychological task of adapting. We have experienced that when firmly embedded in pretest and post-test counseling, pregnant couples can handle test results of uncertain meaning. Pregnant couples often need support in making a best-fitting decision about the course of their pregnancy. In our experience the need for support increases when test results are more uncertain. Offering WES should thus be accompanied by post-test decision-making support, which is an important tool for mitigating distress. After the decision is made, pregnant couples may either need to re-attach to their unborn child or grieve for their loss. The availability of aftercare, focusing on grief counseling with special attention for the couple dynamics, may therefore be even more important when using WES.