Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death.

ABSTRACT: Following termination of pregnancy for fetal anomaly or unexplained perinatal death (PND), clinical geneticists advise on possible genetic causes and likelihood of recurrence, often with limited use of molecular analysis. In the Australian Genomic Autopsy Study (GAS) cases that were unresolved following standard-of-care investigations underwent exome and/or genome sequencing (ES/GS). This diagnostic before-and-after study measured the changes in clinical management, in terms of the effect on clinical counselling that was provided to parents following ES/GS. Clinicians were surveyed before and after receiving sequencing results about the likelihood of recurrence and the reproductive planning advice they would provide to families. 161 pairs of before-and-after surveys were completed. Clinici

SUBMITTER: Schubert CM 

PROVIDER: S-EPMC12674983 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature