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

14 Oct 2021

Abstract excerpt

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...

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PMID: 34643287
DOI: 10.1002/pd.6056

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