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 voor dit werk

OnderzoeksoutputAcademicpeer review

14 Citaten (Scopus)
120 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.

Originele taal-2English
Pagina's (van-tot)762-774
Aantal pagina's13
TijdschriftPrenatal Diagnosis
Nummer van het tijdschrift6
Vroegere onlinedatum22-okt.-2021
StatusPublished - mei-2022


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