Objectives A systematic review was conducted in high-income country settings to analyse: (i) spina bifida neonatal and IMRs over time, and (ii) clinical and socio-demographic factors associated with mortality in the first year after birth in infants affected by spina bifida. Data sources PubMed, Embase, Ovid, Web of Science, CINAHL, Scopus and the Cochrane Library were searched from 1st January, 1990 to 31st August, 2020 to review evidence. Study selection Population-based studies that provided data for spina bifida infant mortality and case fatality according to clinical and socio-demographical characteristics were included. Studies were excluded if they were conducted solely in tertiary centres. Spina bifida occulta or syndromal spina bifida were excluded where possible. Data extraction and synthesis Independent reviewers extracted data and assessed their quality using MOOSE guideline. Pooled mortality estimates were calculated using random-effects (+/- fixed effects) models meta-analyses. Heterogeneity between studies was assessed using the Cochrane Q test and I2 statistics. Meta-regression was performed to examine the impact of year of birth cohort on spina bifida infant mortality. Results Twenty studies met the full inclusion criteria with a total study population of over 30 million liveborn infants and approximately 12,000 spina bifida-affected infants. Significant declines in spina bifida associated infant and neonatal mortality rates (e.g. 4.76% decrease in IMR per 100, 000 live births per year) and case fatality (e.g. 2.70% decrease in infant case fatality per year) were consistently observed over time. Preterm birth (RR 4.45; 2.30–8.60) and low birthweight (RR 4.77; 2.67–8.55) are the strongest risk factors associated with increased spina bifida infant case fatality. Significance Significant declines in spina bifida associated infant/neonatal mortality and case fatality were consistently observed, advances in treatment and mandatory folic acid food fortification both likely play an important role. Particular attention is warranted from clinicians caring for preterm and low birthweight babies affected by spina bifida.

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ObjectivesTo investigate risk factors associated with death of infants with a congenital anomaly in Wales, UK.DesignA population-based cohort study.SettingData from the Welsh Congenital Anomaly Register and Information Service (CARIS) linked to live births and deaths from the Office for National Statistics.PatientsAll live births between 1998 and 2016 with a diagnosis of a congenital anomaly, which was defined as a structural, metabolic, endocrine or genetic defect, as well as rare disease of hereditary origin.Main outcome measuresAdjusted ORs (aORs) were estimated for socio-demographic, maternal, infant and intervention factors associated with death in infancy, using logistic regression for all, isolated, multiple and cardiovascular anomalies.Results30 424 live births affected by congenital anomalies were identified, including 1044 infants who died by the age of 1 year (infant mortality rate: 16.5 per 10 000 live births, case fatality: 3.4%, 30.3% of all infant deaths). Risk factors for infant death were non-white versus white ethnicity (aOR: 2.25; 95% CI: 1.77–2.86); parous versus nulliparous (aOR: 1.24; 95% CI: 1.08–1.41); smoking during pregnancy versus non-smokers/ex-smokers (aOR: 1.20; 95% CI: 1.02–1.40); preterm versus term birth (aOR: 4.38; 95% CI 3.86–4.98); female versus male infants (aOR: 1.28; 95% CI: 1.13–1.46) and the earlier years of the birth cohort (aOR: 0.96; 95% CI: 0.95–0.98 per yearly increase). Infants with a cardiovascular anomaly who received surgery had a lower odds of death than those who did not (aOR: 0.34; 95% CI: 0.15–0.75). Preterm birth was a significant factor for death for all anomalies but the effect of the other characteristics varied according to anomaly group.ConclusionsNearly a third of all infant deaths had an associated anomaly. Improving access to prenatal care, smoking cessation advice, optimising care for preterm infants and surgery may help lower the risk of infant death.

ObjectivesTo investigate risk factor associated with hospitalisation of infants with a congenital anomaly in Wales, UK.DesignA population-based cohort study.SettingData from the Welsh Congenital Anomaly Register and Information Service linked to the Patient Episode Database for Wales and livebirths and deaths from the Office for National Statistics.PatientsAll livebirths between 1999 and 2015 with a diagnosis of a congenital anomaly, which was defined as a structural, metabolic, endocrine or genetic defect, as well as rare diseases of hereditary origin.Main outcome measuresAdjusted OR (aOR) associated with 1 or 2+ hospital admissions in infancy versus no admissions were estimated for sociodemographic, maternal and infant factors using multinomial logistic regression for the subgroups of all, isolated, multiple and cardiovascular anomalies.Results25 523 infants affected by congenital anomalies experienced a total of 50 705 admissions in infancy. Risk factors for ≥2 admissions were younger maternal age ≤24 years (aOR: 1.17; 95% CI 1.06 to 1.30), maternal smoking (aOR: 1.20; 1.10 to 1.31), preterm birth (aOR: 2.52; 2.25 to 2.83) and moderately severe congenital heart defects (aOR: 6.25; 4.47 to 8.74). Girls had an overall decreased risk of 2+ admissions (aOR: 0.84; 0.78 to 0.91). Preterm birth was a significant risk factor for admissions in all anomaly subgroups but the effect of the other characteristics varied according to anomaly subgroup.ConclusionsOver two-thirds of infants with an anomaly are admitted to hospital during infancy. Our findings identified sociodemographic and clinical characteristics contributing to an increased risk of hospitalisation of infants with congenital anomalies.