Prenatal exome and genome sequencing for fetal structural abnormalities.

ABSTRACT: As prenatal exome sequencing becomes integrated into clinical care, it is critical that providers caring for women with fetal anomalies recognize not only the benefits, but also the challenges and considerations related to this technology. This overview of prenatal sequencing includes information about indications for sequencing, methods, diagnostic yield, clinical utility, variant interpretation, ethical considerations and dilemmas, practical considerations (ie, turnaround time and cost), pre- and posttest counseling points, and psychological impact of testing on families.

SUBMITTER: Vora NL 

PROVIDER: S-EPMC9877148 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature