Implementing a rapid fetal exome sequencing service: What do parents and health professionals think?

ABSTRACT:

Objectives

Prenatal exome sequencing (pES) for the diagnosis of fetal abnormalities is being introduced more widely in clinical practice. Here we explore parents' and professionals' views and experiences of pES, to identify perceived benefits, concerns, and support needs.

Methods

Semi-structured interviews were conducted with 11 parents and 20 health professionals (fetal medicine and clinical genetics) with experience of rapid pES prior to implementation in the English National Health Service. Interviews were transcribed verbatim and analysed thematically.

Results

Parents and professionals were largely positive about pES, emphasising clinical and psychosocial benefits of a timely, definitive diagnosis in pregnancy. Concerns included parental anxiety related to the tim

SUBMITTER: Mellis R 

PROVIDER: S-EPMC9324936 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature