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

ABSTRACT:

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 actu

SUBMITTER: Plantinga M 

PROVIDER: S-EPMC9298392 | biostudies-literature | 2022 May

REPOSITORIES: biostudies-literature