{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T03:29:04Z","timestamp":1777519744883,"version":"3.51.4"},"reference-count":24,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2021,10,22]],"date-time":"2021-10-22T00:00:00Z","timestamp":1634860800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100005075","name":"Universitair Medisch Centrum Groningen","doi-asserted-by":"publisher","award":["CDO17.0028"],"award-info":[{"award-number":["CDO17.0028"]}],"id":[{"id":"10.13039\/501100005075","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["obgyn.onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Prenatal Diagnosis"],"published-print":{"date-parts":[[2022,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>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\u2010 and post\u2010test counseling, was experienced by parents investigating its impact on decision\u2010making and experienced levels of anxiety.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>A mixed\u2010methods approach was adopted. Participating couples (<jats:italic>n<\/jats:italic>\u00a0=\u00a046) were asked to fill in two surveys (pre\u2010test and post\u2010test counseling) and 11 couples were approached for an additional interview.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>All couples accepted the rES test\u2010offer with the most important reason for testing emphasizing their hope of finding an underlying diagnosis that would aid decision\u2010making. The actual impact on decision\u2010making 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Major congenital anomalies detected on ultrasound seem to have more impact on prenatal parental decision\u2010making and anxiety then the offer and results of rES. However, the impact of rES on reproductive decision\u2010making and experienced anxiety requires further investigation, especially in pregnancies where less (severe) fetal anomalies are detected on ultrasound.<\/jats:p><\/jats:sec>","DOI":"10.1002\/pd.6056","type":"journal-article","created":{"date-parts":[[2021,10,14]],"date-time":"2021-10-14T22:01:36Z","timestamp":1634248896000},"page":"762-774","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":27,"title":["Parental experiences of rapid exome sequencing in cases with major ultrasound anomalies during pregnancy"],"prefix":"10.1002","volume":"42","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3350-9842","authenticated-orcid":false,"given":"Mirjam","family":"Plantinga","sequence":"first","affiliation":[{"name":"Department of Genetics University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lauren","family":"Zwienenberg","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eva","family":"van Dijk","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hanna","family":"Breet","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen University of Groningen  Groningen The Netherlands"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Janouk","family":"Diphoorn","sequence":"additional","affiliation":[{"name":"Department of Genetics University Medical Center Groningen University of Groningen  Groningen The 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