Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy

Mirjam Plantinga*, Lauren Zwienenberg, Eva van Dijk, Hanna Breet, Janouk Diphoorn, Julia El Mecky, Katelijne Bouman, Joke Verheij, Erwin Birnie, Adelita V Ranchor, Nicole Corsten-Janssen, Irene M van Langen

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

10 Citations (Scopus)
62 Downloads (Pure)


BACKGROUND: Adding rapid Exome Sequencing (rES) to conventional genetic tests improves the diagnostic yield of pregnancies showing ultrasound abnormalities but also carries a higher chance of unsolicited findings. We evaluated how rES, including pre- and post-test counseling, was experienced by parents investigating its impact on decision-making and experienced levels of anxiety.

METHODS: A mixed-methods approach was adopted. Participating couples (n=46) were asked to fill in two surveys (pre-test and post-test counseling) and 11 couples were approached for an additional interview.

RESULTS: All couples accepted the rES test-offer with the most important reason for testing emphasizing their hope of finding an underlying diagnosis that would aid decision-making. The actual impact on decision-making was low, however, since most parents decided to terminate the pregnancy based on the major and multiple fetal ultrasound anomalies and did not wait for their rES results. Anxiety was elevated for most participants and decreased over time.

CONCLUSION: Major congenital anomalies detected on ultrasound seem to have more impact on prenatal parental decision-making and anxiety then the offer and results of rES. However, the impact of rES on reproductive decision-making and experienced anxiety requires further investigation, especially in pregnancies where less (severe) fetal anomalies are detected on ultrasound. This article is protected by copyright. All rights reserved.

Original languageEnglish
Pages (from-to)762-774
Number of pages13
JournalPrenatal Diagnosis
Issue number6
Early online date22-Oct-2021
Publication statusPublished - May-2022



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