Experiences of Dutch parents undergoing prenatal genomic testing for fetal structural anomalies: A prospective...

Prenatal Exome Sequencing (pES) increases the diagnostic rate for genetic disorders in pregnancies with structural abnormalities and substantially impacts parental decision-making regarding pregnancy continuation or termination. Previous qualitative research on parental experiences of pES has typically been performed several months after results were returned to parents. Moreover, parental experiences of pES might be dependent on cultural aspects and country-specific healthcare systems. This research therefore prospectively explores experiences of families undergoing pES in the Netherlands. Expectant parents undergoing pES because of ultrasound anomalies were invited to participate with two interviews: interview T1 after counseling for genetic testing but prior to return of results and interview T2 six  months after return of results. We translated a previously designed Australian interview script, used in similar research, to Dutch, including four open-end and two multiple-choice questions in addition to demographic details. An inductive content analysis approach was used for coding and analysis. Twelve families were interviewed at T1, of which five participants agreed to T2 follow-up interviews. We constructed six content categories of importance: (1) Prenatal feelings of fear, uncertainty, guilt, and anxiety; (2) conflicting feelings in the face of (un)certainty; (3) overall satisfaction with genetic counseling; (4) decision-making influenced by desire for information about their child's quality of life; (5) decision-making influenced by reproductive options and family planning; and (6) importance of empathy, kindness, and clear communication from friends, family, and healthcare professionals. Many content categories show overlap to previous research. However, families in this cohort did not explicitly express negative opinions about waiting on results which is possibly explained by concurrently running multiple genetic testing modalities. Moreover, all participants mentioned positive experiences of the provided healthcare, partly because of swift multidisciplinary collaboration. This study highlights the value of pre-test counseling by clinical geneticists and shows the need for close collaboration between feto-maternal specialists, clinical geneticists, and laboratory specialists.