Evidence of utility of rapid prenatal exome sequencing beyond termination of pregnancy: A 2-year cohort from the Leeds Clinical Genomics Service
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All Authors
Best, Sunayna
Imam, Aliza Zainab
Kesh, Leila Amel Riazat
Allen, Stephanie
Fogg, Kirsty
Barnes, Denise
Campbell, Jennifer
LTHT Author
Best, Sunayna
Campbell, Jennifer
Campbell, Jennifer
LTHT Department
Pathology
Clinical Genetics
Clinical Genetics
Non Medic
Publication Date
2025
Item Type
Conference Abstract
Language
Subject
Subject Headings
Abstract
Background: The prenatal exome sequencing (pES) service provides rapid genetic testing for pregnancies with significant fetal anomalies for which a monogenic cause is suspected, and where antenatal diagnosis may alter pregnancy or delivery management. pES tests requested across the Leeds Clinical Genomics Service catchment areas are undertaken by the Birmingham team as per national pathways.
Aims: to evaluate the impact of prenatal diagnoses on pregnancy management including: termination or continuation of pregnancy, altered delivery plans and neonatal management.
Methods: We reviewed all pES cases between 01/08/2021 and 31/12/2023 according to a pre-determined proforma. A retrospective analysis of patient records was undertaken. Patients were identified through local genomics laboratories. Electronic patient records and paper notes were used to collect data.
Results: 62 pES were completed, yielding 15 diagnoses (diagnostic yield 24.2%). Activation of pES ranged from 13+1 weeks to 35 weeks. The median turnaround time was 14 calendar days. In cases where a diagnosis was made, the following pregnancy outcomes were documented: 3 terminations, 11 live births, and 1 stillbirth. Of the live births, antenatal genetic diagnosis facilitated a postnatal palliation plan for 1 and supported a change in management plan to deliver in tertiary or quaternary level service for 8. Understanding of the genetic diagnosis supported local care for the remaining two cases. Three of the liveborn babies did not survive the neonatal period (including the one that received palliative care from birth).
Conclusion: Information from pES aids decision making beyond continuation or termination of pregnancy. It facilitates prognostic information beyond what could be interpreted from antenatal scans alone. Timely planning of delivery and postnatal management including access to tertiary/quaternary services or palliation is valuable to patients and health services.