Implementation of Public Funded Genome Sequencing in Evaluation of Fetal Structural Anomalies.

ABSTRACT: With the advancements in prenatal diagnostics, genome sequencing is now incorporated into clinical use to maximize the diagnostic yield following uninformative conventional tests (karyotype and chromosomal microarray analysis). Hong Kong started publicly funded prenatal genomic sequencing as a sequential test in the investigation of fetal structural anomalies in April 2021. The objective of the study was to evaluate the clinical performance and usefulness of this new service over one year. We established a web-based multidisciplinary team to facilitate case selection among the expert members. We retrospectively analyzed the fetal phenotypes, test results, turnaround time and clinical impact in the first 15 whole exome sequencing and 14 whole genome sequencing. Overall, the molecular diagno

SUBMITTER: So PL 

PROVIDER: S-EPMC9690018 | biostudies-literature | 2022 Nov

REPOSITORIES: biostudies-literature