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Objective: To evaluate survival, hospitalisations and surgical procedures for children born with Pierre Robin sequence (PRS) across Europe., Design: Multicentre population-based cohort study., Setting: Data on 463 live births with PRS from a population of 4 984 793 from 12 EUROCAT congenital anomaly registries., Methods: Data on children with PRS born 1995-2014 were linked electronically to data on mortality, hospitalisations and surgical procedures up to 10 years of age. Each registry applied a common data model to standardise the linked data and ran common syntax scripts to produce aggregate tables. Results from each registry were pooled using random-effect meta-analyses., Main Outcome Measures: Probability of survival, proportion of children hospitalised and undergoing surgery, and median length of hospital stay., Results: The majority of deaths occurred in the first year of life with a survival rate of 96.0% (95% CI 93.5% to 98.5%); 95.1% (95% CI 92.7% to 97.7%) survived to age 10. In the first year of life, 99.2% (95% CI 95.0% to 99.9%) of children were hospitalised with a median stay of 21.4 days (95% CI 15.6 to 27.2), and 67.6% (95% CI 46.6% to 81.8%) underwent surgery. In the first 5 years of life, 99.2% of children underwent a median of two surgical procedures. Between ages 5 and 9, 58.3% (95% CI 44.7% to 69.7%) were hospitalised with a median annual stay of 0.3 days., Conclusions: Children with PRS had high mortality and morbidity with long hospital stays in the first year of life, and almost all had surgery before 5 years of age. Survival improved after infancy with fewer hospitalisations after age 5. This study provides reliable estimates of the survival and morbidity of children with PRS for families and healthcare providers., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To investigate the survival to 10 years of age of children with trisomy 13 (T13) and children with trisomy 18 (T18), born 1995-2014., Design: Population-based cohort study that linked mortality data to data on children born with T13 or T18, including translocations and mosaicisms, from 13 member registries of EUROCAT, a European network for the surveillance of congenital anomalies., Setting: 13 regions in nine Western European countries., Patients: 252 live births with T13 and 602 with T18., Main Outcome Measures: Survival at 1 week, 4 weeks and 1, 5 and 10 years of age estimated by random-effects meta-analyses of registry-specific Kaplan-Meier survival estimates., Results: Survival estimates of children with T13 were 34% (95% CI 26% to 46%), 17% (95% CI 11% to 29%) and 11% (95% CI 6% to 18%) at 4 weeks, 1 and 10 years, respectively. The corresponding survival estimates were 38% (95% CI 31% to 45%), 13% (95% CI 10% to 17%) and 8% (95% CI 5% to 13%) for children with T18. The 10-year survival conditional on surviving to 4 weeks was 32% (95% CI 23% to 41%) and 21% (95% CI 15% to 28%) for children with T13 and T18, respectively., Conclusions: This multi-registry European study found that despite extremely high neonatal mortality in children with T13 and T18, 32% and 21%, respectively, of those who survived to 4 weeks were likely to survive to age 10 years. These reliable survival estimates are useful to inform counselling of parents after prenatal diagnosis., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.)

Objectives: To describe the epidemiology and geographical differences in prevalence of congenital cerebral anomalies in Europe., Design and Setting: Congenital cerebral anomalies (International Classification of Diseases, 10th Revision code Q04) recorded in 29 population-based EUROCAT registries conducting surveillance of 1.7 million births per annum (29% of all European births)., Participants: All birth outcomes (live births, fetal deaths from 20 weeks gestation and terminations of pregnancy after prenatal diagnosis of a fetal anomaly (TOPFA)) from 2005 to 2014., Main Outcome Measures: Prevalence, proportion of associated non-cerebral anomalies, prenatal detection rate., Results: 4927 cases with congenital cerebral anomalies were identified; a prevalence (adjusted for under-reporting) of 9.8 (95% CI: 8.5 to 11.2) per 10 000 births. There was a sixfold difference in prevalence across the registries. Registries with higher proportions of prenatal diagnoses had higher prevalence. Overall, 55% of all cases were liveborn, 3% were fetal deaths and 41% resulted in TOPFA. Forty-eight per cent of all cases were an isolated cerebral anomaly, 25% had associated non-cerebral anomalies and 27% were chromosomal or part of a syndrome (genetic or teratogenic). The prevalence excluding genetic or chromosomal conditions increased by 2.4% per annum (95% CI: 1.3% to 3.5%), with the increases occurring only for congenital malformations of the corpus callosum (3.0% per annum) and 'other reduction deformities of the brain' (2.8% per annum)., Conclusions: Only half of the cases were isolated cerebral anomalies. Improved prenatal and postnatal diagnosis may account for the increase in prevalence of congenital cerebral anomalies from 2005 to 2014. However, major differences in prevalence remain between regions., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2019. No commercial re-use. See rights and permissions. Published by BMJ.)

Objective: To characterise and compare cognitive outcomes in children with operated (open-heart surgery) and non-operated (catheter-based interventions only or no intervention) congenital heart defects (CHD) and to determine associated risk factors., Design: This prospective population-based study reports outcomes of 3-year-old children with CHD with or without open-heart surgery., Main Outcome Measures: Standardised cognitive scores (mean scores and proportions below normative values) were assessed with the Kaufman Assessment Battery for Children II. We analysed demographic, perinatal and operative variables as predictors of cognitive outcomes., Results: 419 children participated (154 with open-heart surgery; 265 without surgery). Global cognitive scores did not differ between the groups. Compared with the non-operated group, children who underwent surgery obtained lower scores in expressive language (p=0.03) and logical reasoning (p=0.05). When compared with test norms, the frequency of global cognitive scores >1 SDs below the expected mean was higher in the surgical group (25% vs 16% in the general population) (p=0.03). A higher-than-expected proportion of children in the non-operated group scored >2 SDs below the expected mean (7% vs 2%) (p=0.05). Being small for gestational age (SGA) significantly increased the risk of cognitive impairment in the surgical group, after adjustments for multiple covariates including maternal education, complexity of the CHD and operative-related variables (adjusted OR=5.9; 95% CI (1.7 to 20.1))., Conclusions: Despite mean scores within the normative range, a high proportion of preschool children with CHD with or without surgery are at early cognitive risk. SGA is a strong predictor of the neurodevelopmental prognosis in CHD., (© Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.)