Aim: The aim of this study was to evaluate whether unexpected diagnoses (UD) made by prenatal array testing contribute to pregnancy management. Patients & methods: In 2010-2015 in 19/4043 (0.5%) pregnancies an UD was made. The clinical usefulness of UDs was assessed based on the couple's responses during post-test counseling and their decisions. Results: In 16/19 cases, the UD was helpful either for the couples in making a decision about the course of their pregnancy, for perinatal management or family genetic counseling. Conclusion: The majority of the pregnant couples found the UDs relevant for pregnancy management and genetic counseling. This adds another motive for offering whole genome array during pregnancy in patients who wish broad testing of their fetus.

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Biomarkers in Medicine
Department of Clinical Genetics

Joosten, M., Diderich, K., Van Opstal, D., Govaerts, L., Riedijk, S., Prinsen, A.K.E. (A Krista E.), … Srebniak, M. (2016). Clinical experience of unexpected findings in prenatal array testing. Biomarkers in Medicine, 10(8), 831–840. doi:10.2217/bmm-2016-0054