Parental experiences of prenatal whole exome sequencing (WES) in cases of ultrasound diagnosed fetal structural anomaly

Elizabeth Quinlan-Jones, Sarah C. Hillman, Mark D. Kilby, Sheila M. Greenfield

Research output: Contribution to journalArticlepeer-review

17 Citations (Scopus)
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OBJECTIVE: To explore parental experiences of whole exome sequencing (WES) for prenatal diagnosis and ascertain what influenced their decision-making to undergo testing.

METHOD: Twelve women comprised a purposeful sample in a series of semistructured interviews. All had received a fetal anomaly diagnosis on ultrasound. A topic guide was used, and transcripts were thematically analyzed to elicit key themes.

RESULTS: Five main themes (parental experiences of prenatal WES, need for information, consent/reasons for prenatal WES, sources of support for prenatal WES, and return of WES findings to families) emerged, some with multiple subthemes.

CONCLUSIONS: Parents desired as much information as possible and appreciated information being repeated and provided in various formats. Many struggled with clinical uncertainty relating to the cause and prognosis following a fetal anomaly diagnosis and found it difficult to balance the risks of invasive testing against their need for more definitive information. Parents trusted their clinicians and valued their support with decisions in pregnancy. Testing was sometimes pursued to reassure parents that their baby was "normal" rather than to confirm an underlying genetic problem. Parents were motivated to undergo WES for personal and altruistic reasons but disliked waiting times for results and were uncertain about what findings might be returned.

Original languageEnglish
Pages (from-to)1225-1231
Number of pages7
JournalPrenatal Diagnosis
Issue number12
Early online date19 Oct 2017
Publication statusPublished - 10 Nov 2017


  • Journal Article


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