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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.

Background Although individually rare, (5 per 10,000) and under-recognised in healthcare systems, collectively Rare Diseases (RDs) are common, with 8,000 diseases described. There are an estimated 300,000 Rare Disease (RD) patients in Ireland; 75% of paediatric onset. The EU recognises RDs as serious, chronic, and often life threatening illnesses. The Irish National Plan for RDs (2014) recommended epidemiological studies of RD prevalence to improve both cost efficiencies and care of patients with RD’s. Objectives To derive the incidence of paediatric RD and the number of paediatric RD mortality cases through analysis of records held at two major tertiary paediatric hospitals, for children born in the year 2000. In addition to ascertain in-hospital mortality cases with a RD and respective hospital usage. Methods National population based study of RD patients born in Ireland in the year 2000. Cases were identified using electronic/manual records from: the National Paediatric Mortality Registry office; Clinical, Cytogenetics and Molecular genetics database; Radiology and the Hospital In-Patient Enquiry system (HIPE). A detailed analysis of 10 years national death registration information for RDs from 2006–2016 was undertaken. In addition a study of 2 years data (2015–2016) HIPE, of RD discharges RIP age 0–14 years with analysis of their respective hospital days used. Results There were 54,789 livebirths in 2000. Clinical, Cytogenetic and Molecular Genetics identified 603, 121 and 77 cases of RDs respectively. Ongoing HIPE searches (two major centres) identified 370 and 702 additional cases of RD. Mortality data (2006–2016) revealed 65.7% of 105 deaths from the 2000 cohort had a RD.Of all deaths (n=4044) aged 0–14, on the Register (2006–2016), 58.56% (n=2368) had a RD diagnosis with age distribution; Neonates, 56%, Post-neonates, 58%, Children aged 1–14 years, 64%. Of the total (n=365) 0–14 years (2015–2016) inpatient deaths, (n=234) 64% had a RD, 52.6% (n=123) of the deaths were at the two major centres. Of the total hospital days used by this cohort (n=5566.5) 84%(n=4668.5) of the total day usage and 77% (3137/4059) of ICU days used were by RD patients. Conclusions This study has identified > 1,800 RD patients presenting by age 17 giving a minimum incidence of 3.3% for paediatric RDs. It confirms that the use of acute hospital services by RD patients far exceeds that expected by their numbers. 65.7% of paediatric mortality cases for the year 2000 cohort and 58.6% of all cases from 2006–2016 had a RD confirming the serious nature of these disorders.