Abstract
The aim of the study was to provide accurate information regarding live-born infant survival after diagnosis of fatal fetal anomaly (FFA) to aid decision-making in respect of pregnancy management, and to ascertain the natural history of live-born infants with FFAs via a retrospective analysis of death records (2006–2018), from the National Paediatric Mortality Registry (source Central Statistics Office 2019). Diagnoses and survival times were ascertained from narrative records with further ascertainment and reconciliation of trisomies 13 and 18 cases by review of cytogenetic test records, the National Death Events Register and National Perinatal Epidemiology Centre data. During the study period, termination of pregnancy was not permitted under the Irish Constitution. Patients are live-born babies with fatal fetal anomalies whose deaths were registered in the Republic of Ireland. The main outcome measure was construction of anomaly-specific survival curves, or survival time range and median for those anomalies with rare occurrence. Survival curves for anencephaly, bilateral renal agenesis, thanatophoric dysplasia, trisomy 13, and trisomy 18 show that 90% (n = 95), 93% (n = 60), 100% (n = 14), 37% (n = 92) and 33% (n = 162), respectively, were deceased by 24 h and 98%, 100%, 100%, 73%, and 53%, respectively, by 1 week post-delivery. Survival time range and median were calculated for triploidy (3.5 h–20 days; 10.5 days), whose occurrence was rare. Anhydramnios, craniorachischisis, hydranencephaly and severe hydrocephalus were extremely rare and all deaths were neonatal deaths. Our results provide 13 years of national natural history data of live birth FFA survival. This provides objective information to aid obstetric counselling of couples upon diagnosis of an FFA.
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Original data is not available as it captures rare patient events that might be identifiable despite being anonymised.
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Acknowledgements
We would like to thank Dr. Jan Miletan, Dr. Breda Hayes, Dr. Niamh Ni Shuibne, Mr. Paul Corcoran, Ms. Mary Cunniffe and Ms. Rita Kavanagh for their help in this study. We thank the patients and staff of the maternity units in Ireland who have contributed to the National Perinatal Epidemiology Centre. We are grateful to the individual units for their participation in the NPEC national clinical audits and the data coordinators at unit level who facilitate data submission. We thank the NPEC, the NPEC Governance Committee and the NPEC Perinatal Mortality Group which facilitate this work.
Funding
This study was part of a larger study for which we received grant support (RPAC 17–06) from the Temple Street Foundation, Dublin, Ireland. The funder had no role in the study design, execution, analysis or manuscript preparation. The research was undertaken at Temple Street Children’s University Hospital, Dublin.
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All authors made substantial contributions to this work.
EAG: study design, data collection, interpretation and analysis and manuscript preparation.
SAL: study design, data interpretation and analysis and manuscript preparation.
CMcG: data collection and manuscript preparation.
KH: data collection and manuscript preparation.
DML: study design, data interpretation and analysis and manuscript preparation.
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Permission for this project was obtained as a health researcher in adherence with the Statistics Act, 1993, which allows access to more detailed vital statistics to those engaged in medical or social research.
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Emer Gunne, Sally Ann Lynch, Cliona McGarvey, Karina Hamilton and Deborah Lambert have no competing interests to declare. ‘Results are based on analysis of strictly controlled Research Microdata Files provided by the Central Statistics Office (CSO). The CSO does not take any responsibility for the views expressed or the outputs generated from this research’.
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Gunne, E., Lynch, S.A., McGarvey, C. et al. Fatal fetal abnormality Irish live-born survival—an observational study. J Community Genet 12, 643–651 (2021). https://doi.org/10.1007/s12687-021-00534-3
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DOI: https://doi.org/10.1007/s12687-021-00534-3