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. 2025 Aug 9.
doi: 10.1111/cge.70028. Online ahead of print.

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

Camille M Schubert  1 , Matilda R Jackson  2   3 , Christopher P Barnett  4   5 , Hamish S Scott  2   3   5   6   7 , Thomas Sullivan  1   8 , Stephen Goodall  9 , Tracy Merlin  1 ; Genomic Autopsy Study Research Network  7
Collaborators, Affiliations

Evaluating the Clinical Utility of Genomic Sequencing After Perinatal Death

Camille M Schubert et al. Clin Genet. .

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. Clinician estimates regarding PND recurrence changed for 45% (73/161) of families after receiving test results, despite a genetic diagnosis being found in only 19%. Families with an 'unknown likelihood' of recurrence reduced from 26% to 15% (p = 0.01). The information provided to parents about recurrence and reproductive planning increased significantly, both with and without a diagnosis, and clinicians reported that most parents expressed value was obtained from the investigation. The utility of genomic autopsy for clinical management is not restricted to families with a genetic finding.

Keywords: autopsy; clinical genetics; diagnostic before and after study; fetal anomaly; genetic counselling; genomic autopsy; genomic sequencing; perinatal death; reproductive planning.

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