Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.

ABSTRACT:

Background

Trio exome sequencing can be used to investigate congenital abnormalities identified on pregnancy ultrasound, but its use in an Australian context has not been assessed.

Aims

Assess clinical outcomes and changes in management after expedited genomic testing in the prenatal period to guide the development of a model for widespread implementation.

Materials and methods

Forty-three prospective referrals for whole exome sequencing, including 40 trios (parents and pregnancy), two singletons and one duo were assessed in a tertiary hospital setting with access to a state-wide pathology laboratory. Diagnostic yield, turn-around time (TAT), gestational age at reporting, pregnancy outcome, change in management and future pregnancy status were assessed for each family

SUBMITTER: Rogers A 

PROVIDER: S-EPMC11660018 | biostudies-literature | 2024 Oct

REPOSITORIES: biostudies-literature