Predictors of Post-Operative Hospital Length of Stay Following Complete Repair of Tetralogy of Fallot in a Pediatric Cohort in the North of England.

We sought to estimate the median post-operative length of stay (PLOS) and predictors of PLOS following tetralogy of Fallot (ToF) repair at a specialist surgical center in the North of England. The local National Congenital Heart Disease Audit dataset was used to identify patients aged < 2 years who underwent surgical repair for ToF between 1 January 1986 and 13 May 2022. Coefficients representing the median change in PLOS (days) according to predictors were estimated using Quantile regression. There were 224 patients (59.4% male, median age = 9 months, interquartile range (IQR) 5-13 months) with a median PLOS of 9 days (IQR 7-13). In the univariable regression, age (months) and weight (kg) at operation (ß = - 0.17, 95% CI: - 0.33, - 0.01) and (ß = - 0.53, 95% CI: - 0.97, - 0.10), previous (cardiac or thoracic) procedure (ß = 5, 95% CI:2.38, 7.62), procedure urgency (elective vs urgent) (ß = 2.8, 95% CI:0.39, 5.21), bypass time (mins) (ß = 0.03, 95% CI:0.01, 0.05), cross-clamp time (mins) (ß = 0.03, 95% CI:0.01, 0.06) and duration of post-operative intubation (days) (ß = 0.81, 95% CI:0.67, 0.96), were significantly associated with PLOS. Previous procedure and intubation time remained significant in multivariable analyses. Some patient and operative factors can predict PLOS following complete ToF repair. Information on PLOS is important for health professionals to support parents in preparing for their child's discharge and to make any necessary practical arrangements. Health commissioners can draw on evidence-based guidance for resource planning. The small sample size may have reduced the power to detect small effect sizes, but this regional study serves as a foundation for a larger national study.

Diet, Physical Activity and Gestational Weight Gain Patterns among Pregnant Women Living with Obesity in the North East of England: The GLOWING Pilot Trial.

Maternal diet, physical activity (PA) behaviours, and gestational weight gain (GWG) are important for optimum health of women and their babies. This secondary analysis of the GLOWING pilot cluster trial explored these among women living with obesity in high deprivation. Pregnant women completed food frequency, PA and psychosocial questionnaires. Weights were retrieved from medical records and measured during routine appointments with midwives. Descriptive and regression analyses were stratified by obesity class. A total of 163 women were recruited; 54.0% had class 1 obesity, 25.8% class 2, 20.2% class 3, and 76.1% lived in the two most deprived quintiles. Women had suboptimal dietary intake, particularly for oily fish, fruit and vegetables. PA was predominantly light intensity, from household, care and occupational activities. Most women gained weight outside of Institute of Medicine (IOM) guideline recommendations (87.8%); women in class 3 obesity were most likely to have inadequate GWG below IOM recommendations (58.3%, p < 0.01) and reduced odds of excessive GWG compared with class 1 (AOR 0.13, 95% 0.04-0.45). Deprived women with obesity have a double inequality as both increase pregnancy risks. This population requires support to meet guideline recommendations for diet, PA and GWG. Further research exploring obesity classes would inform policies and care to achieve the best pregnancy outcomes.

The Improved Prognosis of Hypoplastic Left Heart: A Population-Based Register Study of 343 Cases in England and Wales.

Background: Hypoplastic Left Heart Syndrome (HLHS) is a severe congenital heart defect (CHD) characterised by the underdevelopment of the left side of the heart with varying levels of hypoplasia of the left atrium, mitral valve, left ventricle, aortic valve and aortic arch. In the UK, age 12 survival for cases born between 1991 and 1993 was 21%. UK survival estimates corresponding to cases born between 2000 and 2015 were improved at 56%, but survival was examined up to age five only. Contemporary long-term survival estimates play a crucial role in counselling parents following diagnosis. The aim of this study was to report survival estimates up to age 15 for children born with HLHS or hypoplastic left ventricle with additional CHD in England and Wales between 1998 and 2012. Methods: Cases of HLHS notified to four congenital anomaly registers in England and Wales during 1998-2012, matched to Office for National Statistics mortality information, were included. Kaplan-Meier survival estimates to age 15 were reported. Cox regression models were fitted to examine risk factors for mortality. Results: There were 244 cases of HLHS and 99 cases of hypoplastic left ventricle co-occurring with other CHD, with traced survival status. Kaplan-Meier survival estimates for HLHS were 84.4% at age 1 week, 76.2% at 1 month, 63.5% at age 1 year, 58.6% at age 5 years, 54.6% at age 10 years, and 32.6% to age 15 years. The Kaplan-Meier survival estimates for cases of hypoplastic left ventricle co-occurring with additional CHD were 90.9% at age 1 week, 84.9% at 1 month, 73.7% at age 1 year, 67.7% to age 5 years, 59.2% to age 10 years, and 40.3% to age 15 years. Preterm birth (p = 0.007), low birth weight (p = 0.005), and female sex (p = 0.01) were associated with mortality. Conclusions: We have shown that prognosis associated with HLHS in the twenty first century exceeds that of many previous population-based studies, likely due to improvements in intensive care technologies and advances in surgical techniques over the last few decades.

Long-term survival of children born with congenital anomalies: A systematic review and meta-analysis of population-based studies.

BACKGROUND: Following a reduction in global child mortality due to communicable diseases, the relative contribution of congenital anomalies to child mortality is increasing. Although infant survival of children born with congenital anomalies has improved for many anomaly types in recent decades, there is less evidence on survival beyond infancy. We aimed to systematically review, summarise, and quantify the existing population-based data on long-term survival of individuals born with specific major congenital anomalies and examine the factors associated with survival. METHODS AND FINDINGS: Seven electronic databases (Medline, Embase, Scopus, PsycINFO, CINAHL, ProQuest Natural, and Biological Science Collections), reference lists, and citations of the included articles for studies published 1 January 1995 to 30 April 2020 were searched. Screening for eligibility, data extraction, and quality appraisal were performed in duplicate. We included original population-based studies that reported long-term survival (beyond 1 year of life) of children born with a major congenital anomaly with the follow-up starting from birth that were published in the English language as peer-reviewed papers. Studies on congenital heart defects (CHDs) were excluded because of a recent systematic review of population-based studies of CHD survival. Meta-analysis was performed to pool survival estimates, accounting for trends over time. Of 10,888 identified articles, 55 (n = 367,801 live births) met the inclusion criteria and were summarised narratively, 41 studies (n = 54,676) investigating eight congenital anomaly types (spina bifida [n = 7,422], encephalocele [n = 1,562], oesophageal atresia [n = 6,303], biliary atresia [n = 3,877], diaphragmatic hernia [n = 6,176], gastroschisis [n = 4,845], Down syndrome by presence of CHD [n = 22,317], and trisomy 18 [n = 2,174]) were included in the meta-analysis. These studies covered birth years from 1970 to 2015. Survival for children with spina bifida, oesophageal atresia, biliary atresia, diaphragmatic hernia, gastroschisis, and Down syndrome with an associated CHD has significantly improved over time, with the pooled odds ratios (ORs) of surviving per 10-year increase in birth year being OR = 1.34 (95% confidence interval [95% CI] 1.24-1.46), OR = 1.50 (95% CI 1.38-1.62), OR = 1.62 (95% CI 1.28-2.05), OR = 1.57 (95% CI 1.37-1.81), OR = 1.24 (95% CI 1.02-1.5), and OR = 1.99 (95% CI 1.67-2.37), respectively (p < 0.001 for all, except for gastroschisis [p = 0.029]). There was no observed improvement for children with encephalocele (OR = 0.98, 95% CI 0.95-1.01, p = 0.19) and children with biliary atresia surviving with native liver (OR = 0.96, 95% CI 0.88-1.03, p = 0.26). The presence of additional structural anomalies, low birth weight, and earlier year of birth were the most commonly reported predictors of reduced survival for any congenital anomaly type. The main limitation of the meta-analysis was the small number of studies and the small size of the cohorts, which limited the predictive capabilities of the models resulting in wide confidence intervals. CONCLUSIONS: This systematic review and meta-analysis summarises estimates of long-term survival associated with major congenital anomalies. We report a significant improvement in survival of children with specific congenital anomalies over the last few decades and predict survival estimates up to 20 years of age for those born in 2020. This information is important for the planning and delivery of specialised medical, social, and education services and for counselling affected families. This trial was registered on the PROSPERO database (CRD42017074675).

Multilevel analyses of related public health indicators: The European Surveillance of Congenital Anomalies (EUROCAT) Public Health Indicators.

BACKGROUND: Public health organisations use public health indicators to guide health policy. Joint analysis of multiple public health indicators can provide a more comprehensive understanding of what they are intended to evaluate. OBJECTIVE: To analyse variaitons in the prevalence of congenital anomaly-related perinatal mortality attributable to termination of pregnancy for foetal anomaly (TOPFA) and prenatal diagnosis of congenital anomaly prevalence. METHODS: We included 55 363 cases of congenital anomalies notified to 18 EUROCAT registers in 10 countries during 2008-12. Incidence rate ratios (IRR) representing the risk of congenital anomaly-related perinatal mortality according to TOPFA and prenatal diagnosis prevalence were estimated using multilevel Poisson regression with country as a random effect. Between-country variation in congenital anomaly-related perinatal mortality was measured using random effects and compared between the null and adjusted models to estimate the percentage of variation in congenital anomaly-related perinatal mortality accounted for by TOPFA and prenatal diagnosis. RESULTS: The risk of congenital anomaly-related perinatal mortality decreased as TOPFA and prenatal diagnosis prevalence increased (IRR 0.79, 95% confidence interval [CI] 0.72, 0.86; and IRR 0.88, 95% CI 0.79, 0.97). Modelling TOPFA and prenatal diagnosis together, the association between congenital anomaly-related perinatal mortality and TOPFA prevalence became stronger (RR 0.70, 95% CI 0.61, 0.81). The prevalence of TOPFA and prenatal diagnosis accounted for 75.5% and 37.7% of the between-country variation in perinatal mortality, respectively. CONCLUSION: We demonstrated an approach for analysing inter-linked public health indicators. In this example, as TOPFA and prenatal diagnosis of congenital anomaly prevalence decreased, the risk of congenital anomaly-related perinatal mortality increased. Much of the between-country variation in congenital anomaly-related perinatal mortality was accounted for by TOPFA, with a smaller proportion accounted for by prenatal diagnosis.

Maternal obesity classes, preterm and post-term birth: a retrospective analysis of 479,864 births in England.

BACKGROUND: Preterm (< 37 weeks gestation) and post-term birth (≥42 weeks gestation) are associated with increased morbidity and mortality for mother and infant. Obesity (body mass index (BMI) ≥30 kg/m2) is increasing in women of reproductive age. Maternal obesity has been associated with adverse pregnancy outcomes including preterm and post-term birth. However, the effect sizes vary according to the subgroups of both maternal BMI and gestational age considered. The aim of this retrospective analysis was to determine the association between maternal obesity classes and gestational age at delivery. METHODS: A secondary data analysis of 13 maternity units in England with information on 479,864 singleton live births between 1990 and 2007. BMI categories were: underweight (< 18.5 kg/m2), recommended weight (18.5-24.9 kg/m2), overweight (25.0-29.9 kg/m2) and obesity classes I (30.0-34.9 kg/m2), II (35.0-39.9 kg/m2), IIIa (40-49.9 kg/m2) and IIIb (≥50 kg/m2). Gestational age at delivery categories were: Gestational age at delivery (weeks): extreme preterm (20-27), very preterm (28-31), moderately preterm (32-36), early term (37, 38), full term (39-40), late term (41) and post-term (≥42). The adjusted odds of births in each gestational age category (compared to full-term birth), according to maternal BMI categories were estimated using multinomial logistic regression. Missing data were estimated using multiple imputation with chained equations. RESULTS: There was a J-shaped association between the absolute risk of extreme, very and moderate preterm birth and BMI category, with the greatest effect size for extreme preterm. The absolute risk of post-term birth increased monotonically as BMI category increased. The largest effect sizes were observed for class IIIb obesity and extreme preterm birth (adjusted OR 2.80, 95% CI 1.31-5.98). CONCLUSION: Women with class IIIb obesity have the greatest risks for inadequate gestational age. Combining obesity classes does not accurately represent risks for many women as it overestimates the risk of all preterm and post-term categories for women with class I obesity, and underestimates the risk for women in all other obesity classes.

Socio-economic inequalities in mortality in children with congenital heart disease: A systematic review and meta-analysis.

BACKGROUND: The impact of socio-economic status (SES) on congenital heart disease (CHD)-related mortality in children is not well established. OBJECTIVES: We aimed to systematically review and appraise the existing evidence on the association between SES (including poverty, parental education, health insurance, and income) and mortality among children with CHD. DATA SOURCES: Seven electronic databases (Medline, Embase, Scopus, PsycINFO, CINAHL, ProQuest Natural, and Biological Science Collections), reference lists, citations, and key journals were searched. STUDY SELECTION AND DATA EXTRACTION: We included articles reporting original research on the association between SES and mortality in children with CHD if they were full papers published in the English language and regardless of (a) timing of mortality; (b) individual or area-based measures of SES; (c) CHD subtype; (d) age at ascertainment; (e) study period examined. Screening for eligibility, data extraction, and quality appraisal were performed in duplicate. SYNTHESIS: Meta-analyses were performed to estimate pooled ORs for in-hospital mortality according to health insurance status. RESULTS: Of 1388 identified articles, 28 met the inclusion criteria. Increased area-based poverty was associated with increased odds/risk of postoperative (n = 1), neonatal (n = 1), post-discharge (n = 1), infant (n = 1), and long-term mortality (n = 2). Higher parental education was associated with decreased odds/risk of neonatal (n = 1) and infant mortality (n = 5), but not with long-term mortality (n = 1). A meta-analysis of four US articles showed increased unadjusted odds of in-hospital mortality in those with government/public versus private health insurance (OR 1.40, 95% CI 1.24, 1.56). The association between area-based income and CHD-related mortality was conflicting, with three of eight articles reporting significant associations. CONCLUSION: This systematic review provides evidence that children of lower SES are at increased risk of CHD-related mortality. As these children are over-represented in the CHD population, interventions targeting socio-economic inequalities could have a large impact on improving CHD survival.

Assessing the deprivation gap in stillbirths and neonatal deaths by cause of death: a national population-based study.

OBJECTIVE: To investigate socioeconomic inequalities in cause-specific stillbirth and neonatal mortality to identify key areas of focus for future intervention strategies to achieve government ambitions to reduce mortality rates. DESIGN: Retrospective cohort study. SETTING: England, Wales, Scotland and the UK Crown Dependencies. PARTICIPANTS: All singleton births between 1 January 2014 and 31 December 2015 at ≥24 weeks' gestation. MAIN OUTCOME MEASURE: Cause-specific stillbirth or neonatal death (0-27 days after birth) per 10 000 births by deprivation quintile. RESULTS: Data on 5694 stillbirths (38.1 per 10 000 total births) and 2368 neonatal deaths (15.9 per 10 000 live births) were obtained from Mothers and Babies: Reducing Risk through Audits and Confidential Enquiries across the UK (MBRRACE-UK). Women from the most deprived areas were 1.68 (95% CI 1.56 to 1.81) times more likely to experience a stillbirth and 1.67 (95% CI 1.48 to 1.87) times more likely to experience a neonatal death than those from the least deprived areas, equating to an excess of 690 stillbirths and 231 neonatal deaths per year associated with deprivation. Small for gestational age (SGA) unexplained antepartum stillbirth was the greatest contributor to excess stillbirths accounting for 33% of the deprivation gap in stillbirths. Congenital anomalies accounted for the majority (59%) of the deprivation gap in neonatal deaths, followed by preterm birth not SGA (24-27 weeks, 27%). CONCLUSIONS: Cause-specific mortality rates at a national level allow identification of key areas of focus for future intervention strategies to reduce mortality. Despite a reduction in the deprivation gap for stillbirths and neonatal deaths, public health interventions should primarily focus on socioeconomic determinants of SGA stillbirth and congenital anomalies.

Projected number of children with isolated spina bifida or down syndrome in England and Wales by 2020.

Children with major congenital anomalies often require lifelong access to health and social care services. Estimating future numbers of affected individuals can aid health and social care planning. This study aimed to estimate the number of children aged 0-15 years living with spina bifida or Down syndrome in England and Wales by 2020. Cases of spina bifida and Down syndrome born during 1998-2013 were identified from the Northern Congenital Abnormality Survey and the National Down Syndrome Cytogenetic Register, respectively. The number of infants born with spina bifida during 1998-2019 were estimated by applying the average prevalence rate in the North of England to actual and projected births in England and Wales. Poisson regression was performed to estimate the number of infants born with Down syndrome in England and Wales during 1998-2013 and 2004-2019. The numbers of children aged 0-15 living with spina bifida or Down syndrome in 2014 and in 2020 were then estimated by multiplying year- and age-specific survival estimates by the number of affected births. An estimated 956 children with isolated spina bifida, 623 children with spina bifida and hydrocephalus and 11,592 children with Down syndrome aged 0-15 years will be living in England and Wales by 2020, increases of 7.2%, 12.0% and 12.7% since 2014, respectively. Due to improvements in survival, an increase in population size and changes in maternal age distribution at delivery, we anticipate further increases in the number of children living with spina bifida or Down syndrome by 2020.

The Tyneside Pegboard Test: development, validation, and observations in unilateral cerebral palsy.

AIM: The aims of this study were twofold: first, to develop and validate a timed test of unimanual and bimanual dexterity suitable for those with disability affecting hand function; second, to explore relationships between unimanual and bimanual completion times. METHOD: We developed the Tyneside Pegboard Test (TPT), an electronically timed test with three peg sizes, incorporating an asymmetrical bimanual task. Nine hundred and seventy-four participants (455 males, 519 females; age range 4-80y) provided normative data. Test-retest reliability and construct validity were assessed (50 adults: 14 males, 36 females; 15-73y) on two occasions 2 weeks apart. Bimanual and unimanual completion times were measured in 87 children (51 males, 36 females) with unilateral cerebral palsy (CP) and 498 individuals in a comparison group (238 males, 260 females; 5-15y). RESULTS: The comparison group showed an asymmetrical U-shaped relationship between completion times and age. Intraclass correlation coefficients ranged from 0.74 to 0.91, indicating moderate test-retest reliability. There was a negative relationship between average TPT bimanual times and Purdue pegboard bimanual scores (Spearman's rho -0.611, degrees of freedom 44, p<0.001). Children with unilateral CP had greater prolongation of bimanual than unimanual completion times compared with the comparison group (mean difference 20.31s, 95% confidence interval 18.13-22.49, p<0.001). INTERPRETATION: The TPT is accessible for those with impaired hand function. Children with unilateral CP demonstrated disproportionate bimanual deficits, even allowing for unimanual dexterity: this has implications for therapy. WHAT THIS PAPER ADDS: We developed an adapted, electronically timed 9-hole pegboard test. Our modifications facilitate use by those with disability affecting hand function. The test incorporates an asymmetrical bimanual task. Children with unilateral cerebral palsy showed disproportionate bimanual dexterity deficits even allowing for unimanual dexterity.

Survival, by Birth Weight and Gestational Age, in Individuals With Congenital Heart Disease: A Population-Based Study.

BACKGROUND: Congenital heart disease (CHD) survival estimates are important to understand prognosis and evaluate health and social care needs. Few studies have reported CHD survival estimates according to maternal and fetal characteristics. This study aimed to identify predictors of CHD survival and report conditional survival estimates. METHODS AND RESULTS: Cases of CHD (n=5070) born during 1985-2003 and notified to the Northern Congenital Abnormality Survey (NorCAS) were matched to national mortality information in 2008. Royston-Parmar regression was performed to identify predictors of survival. Five-year survival estimates conditional on gestational age at delivery, birth weight, and year of birth were produced for isolated CHD (ie, CHD without extracardiac anomalies). Year of birth, gestational age, birth weight, and extracardiac anomalies were independently associated with mortality (all P≤0.001). Five-year survival for children born at term (37-41 weeks) in 2003 with average birth weight (within 1 SD of the mean) was 96.3% (95% CI, 95.6-97.0). Survival was most optimistic for high-birth-weight children (>1 SD from the mean) born post-term (≥42 weeks; 97.9%; 95% CI, 96.8-99.1%) and least optimistic for very preterm (<32 weeks) low-birth-weight (<1 SD from mean) children (78.8%; 95% CI, 72.8-99.1). CONCLUSIONS: Five-year CHD survival is highly influenced by gestational age and birth weight. For prenatal counseling, conditional survival estimates provide best- and worst-case scenarios, depending on final gestational age and birth weight. For postnatal diagnoses, they can provide parents with more-accurate predictions based on their baby's birth weight and gestational age.

Predicting the prevalence of cerebral palsy by severity level in children aged 3 to 15 years across England and Wales by 2020.

AIM: To estimate the number of children living with cerebral palsy (CP) in England and Wales in 2013 by severity, and to extrapolate this figure to 2020. METHOD: Data from the North of England Collaborative Cerebral Palsy Survey for births during the period 1991 to 2000 were restricted to individuals aged at or above 3 years to estimate the prevalence of CP and to calculate 15-year survival by severity according to the number of severe impairments and lifestyle assessment score. The number of 3- to 15-year-olds with CP of different severity in England and Wales was estimated in 2013 and 2019 using actual and nationally projected births. RESULTS: Cumulative survival estimates up to the age of 16 years in children with CP differ significantly by severity, ranging between 97 per cent and 100 per cent for children with non-severe CP, and between 64 per cent and 67 per cent for those with the most severe CP. By the end of 2013, the estimated number of children aged 3 to 15 years living with CP in England and Wales will be about 20 500 rising to approximately 22 100 by 2020, a 7.5 per cent increase. INTERPRETATION: Owing to an increasing population, the number of children living with CP in England and Wales will increase by 2020. This will have significant implications for health and social care service planning.

Survival adjusted cancer risks attributable to radiation exposure from cardiac catheterisations in children.

OBJECTIVES: To estimate the risk of developing cancer in relation to the typical radiation doses received from a range of X-ray guided cardiac catheterisations in children, taking variable survival into account. METHODS: Radiation doses were estimated for 2749 procedures undertaken at five UK hospitals using Monte Carlo simulations. The lifetime attributable risk (LAR) of cancer incidence was estimated using models developed by the Biological Effects of Ionising Radiation committee, based on both normal life expectancy, and as a function of attained age, from 20 to 80 years, to take reduced life expectancy into account. RESULTS: The radiation-related risks from these procedures are dominated by lung and breast cancer (for females). Assuming normal life expectancy, central LAR estimates for cancer incidence, based on median doses, ranged from <1 in 2000 for atrial septal defect occlusions to as high as 1 in 150 for valve replacements. For a reduced life expectancy of 50 years, estimated risks are lower by a factor of around 7. For conditions with especially poor survival (age 20 years), such as hypoplastic left heart syndrome, estimated cancer risks attributable to radiation were <1 in 20 000. CONCLUSIONS: Based on recent UK radiation dose levels, the risk of cancer following cardiac catheterisations is relatively low and strongly modified by survival and the type of procedure. The risk of breast cancer, especially following pulmonary artery angioplasty and valve replacements, is the greatest concern.

Is advanced maternal age a risk factor for congenital heart disease?

BACKGROUND: Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are not referred for specialist fetal echocardiography based on maternal age alone. The aim of this study is to examine the association between maternal age at delivery and CHD prevalence in the North of England. METHODS: Singleton cases of CHD notified to the Northern Congenital Abnormality Survey and born between January 1, 1998, to December 31, 2013, were included. Cases with chromosomal anomalies were excluded. The relative risk (RR) of CHD according to maternal age at delivery was estimated using Poisson regression. RESULTS: There were 4024 singleton cases of nonchromosomal CHD, giving a prevalence of 8.1 (95% confidence interval [CI], 7.8-8.3) per 1000 live and stillbirths. There was no association between maternal age at delivery and CHD prevalence (p = 0.97), with no evidence of an increased risk of CHD in mothers aged ≥35 compared to aged 25 to 29 (RR = 0.99; 95% CI, 0.89-1.09). There were no significant associations between maternal age at delivery and severity III CHD (p = 0.84), severity II CHD (p = 0.74), or severity I CHD (p = 0.66), although there was a slight increased risk of severity I CHD in mothers aged ≥35 (RR = 1.27; 95% CI, 0.83-1.95). CONCLUSION: We found little evidence that advanced maternal age is a risk factor for CHD. There is no evidence that women in the United Kingdom should be referred for specialist prenatal cardiac screening based on their age. Birth Defects Research (Part A) 106:461-467, 2016. © 2016 Wiley Periodicals, Inc.

Long-Term Survival of Individuals Born With Congenital Heart Disease: A Systematic Review and Meta-Analysis.

BACKGROUND: Estimates of long-term survival are required to adequately assess the variety of health and social services required by those with congenital heart disease (CHD) throughout their lives. METHODS AND RESULTS: Medline, Embase, and Scopus were searched from inception to June 2015 using MeSH headings and keywords. Population-based studies that ascertained all persons born with CHD within a predefined area and reported survival estimates at ≥5 years were included. Unadjusted survival estimates for each CHD subtype at ages 1 year, 5 years, 10 years, and so forth were extracted. Pooled survival estimates for each age were calculated using meta-analyses. Metaregression was performed to examine the impact of study period on survival. Of 7840 identified articles, 16 met the inclusion criteria. Among those with CHD, pooled 1-year survival was 87.0% (95% CI 82.1-91.2), pooled 5-year survival was 85.4% (95% CI 79.4-90.5), and pooled 10-year survival was 81.4% (95% CI 73.8-87.9). There was significant heterogeneity of survival estimates among articles (P<0.001 for 1-, 5-, and 10-year survival). A more recent study period was significantly associated with greater survival at ages 1 year (P=0.047), 5 years (P=0.013), and 10 years (P=0.046). Survival varied by CHD subtype, with 5-year survival being greatest for those with ventricular septal defect (96.3%, 95% CI 93.7-98.2) and lowest for those with hypoplastic left heart (12.5%, 95% CI 0.0-41.4). CONCLUSIONS: Among persons with CHD, the mortality rate is greatest during the first year of life; however, this systematic review and meta-analysis showed that survival decreases gradually after infancy and into adulthood.

Register based study of anorectal anomalies over 26 years: Associated anomalies, prevalence, and trends.

BACKGROUND: Anorectal anomalies are atresias or stenoses of the anal canal and rectum with or without fistulous connections with the bladder, urethra, perineum, or vestibule. The aim of this study was to describe the epidemiology of anorectal anomalies, including associated anomalies, prevalence, and temporal trends. METHODS: Anorectal anomalies occurring in late miscarriages (>20 gestation weeks), terminations of pregnancy for fetal anomaly (any gestation), stillbirths (≥24 gestation weeks) and live births, delivered from 1985 to 2010, notified to the Northern Congenital Abnormality Survey (NorCAS) were included in this population-based case series. RESULTS: There were 278 cases among 892,194 live births. Twenty (7.2%) cases occurred in twin pregnancies and 24 (8.7%) with chromosomal anomalies/genetic syndromes were excluded. There were 234 cases (total prevalence = 2.7, 95% confidence interval [CI]: 2.4, 3.1 per 10,000 live and stillbirths). There was no evidence of a trend in prevalence over time (Chi(2) test for trend: p = 0.789). There was a male predominance (70.9%). Of the 234 cases, 167 (71.4%) were live born, two (0.9%) were late miscarriages, seven (3.0%) were stillbirths, and 58 (24.8%) were terminations of pregnancy for fetal anomaly. There was no significant association with maternal age at delivery (p = 0.095). 7.2% of isolated cases (cases with no other congenital anomalies) were diagnosed prenatally. CONCLUSION: The prevalence of anorectal anomalies in this study is comparable to other case series. There was no evidence of a temporal increase in prevalence. We confirmed a male predominance of anorectal anomalies and no significant association with maternal age. Birth Defects Research (Part A) 103:597-602, 2015. © 2015 Wiley Periodicals, Inc.

Epidemiology of congenital diaphragmatic hernia in Europe: a register-based study.

INTRODUCTION: Published prevalence rates of congenital diaphragmatic hernia (CDH) vary. This study aims to describe the epidemiology of CDH using data from high-quality, population-based registers belonging to the European Surveillance of Congenital Anomalies (EUROCAT). METHODS: Cases of CDH delivered between 1980 and 2009 notified to 31 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. RESULTS: There were 3373 CDH cases reported among 12 155 491 registered births. Of 3131 singleton cases, 353 (10.4%) were associated with a chromosomal anomaly, genetic syndrome or microdeletion, 784 (28.2%) were associated with other major structural anomalies. The male to female ratio of CDH cases overall was 1:0.69. Total prevalence was 2.3 (95% CI 2.2 to 2.4) per 10 000 births and 1.6 (95% CI 1.6 to 1.7) for isolated CDH cases. There was a small but significant increase (relative risk (per year)=1.01, 95% credible interval 1.00-1.01; p=0.030) in the prevalence of total CDH over time but there was no significant increase for isolated cases (ie, CDH cases that did not occur with any other congenital anomaly). There was significant variation in total and isolated CDH prevalence between registers. The proportion of cases that survived to 1 week was 69.3% (1392 cases) for total CDH cases and 72.7% (1107) for isolated cases. CONCLUSIONS: This large population-based study found an increase in total CDH prevalence over time. CDH prevalence also varied significantly according to geographical location. No significant association was found with maternal age.

Hirschsprung's disease prevalence in Europe: a register based study.

BACKGROUND: Hirschsprung's disease is a congenital gut motility disorder, characterised by the absence of the enteric ganglion cells along the distal gut. The aim of this study was to describe the epidemiology of Hirschsprung's disease, including additional congenital anomalies, total prevalence, trends, and association with maternal age. METHODS: Cases of Hirschsprung's disease delivered during 1980 to 2009 notified to 31 European Surveillance of Congenital Anomaly registers formed the population-based case-series. Prevalence rates and 95% confidence intervals were calculated as the number of cases per 10,000 births. Multilevel Poisson regression was performed to investigate trends in prevalence, geographical variation and the association with maternal age. RESULTS: There were 1,322 cases of Hirschsprung's disease among 12,146,210 births. The total prevalence was 1.09 (95% confidence interval, 1.03-1.15) per 10,000 births and there was a small but significant increase in prevalence over time (relative risk = 1.01; 95% credible interval, 1.00-1.02; p = 0.004). There was evidence of geographical heterogeneity in prevalence (p < 0.001). Excluding 146 (11.0%) cases with chromosomal anomalies or genetic syndromes, there were 1,176 cases (prevalence = 0.97; 95% confidence interval, 0.91-1.03 per 10,000 births), of which 137 (11.6%) had major structural anomalies. There was no evidence of a significant increased risk of Hirschsprung's disease in cases born to women aged ≥35 years compared with those aged 25 to 29 (relative risk = 1.09; 95% credible interval, 0.91-1.31; p = 0.355). CONCLUSION: This large population-based study found evidence of a small increasing trend in Hirschsprung's disease and differences in prevalence by geographic location. There was also no evidence of an association with maternal age.

Epidemiology of small intestinal atresia in Europe: a register-based study.

BACKGROUND: The epidemiology of congenital small intestinal atresia (SIA) has not been well studied. This study describes the presence of additional anomalies, pregnancy outcomes, total prevalence and association with maternal age in SIA cases in Europe. METHODS: Cases of SIA delivered during January 1990 to December 2006 notified to 20 EUROCAT registers formed the population-based case series. Prevalence over time was estimated using multilevel Poisson regression, and heterogeneity between registers was evaluated from the random component of the intercept. RESULTS: In total 1133 SIA cases were reported among 5126, 164 registered births. Of 1044 singleton cases, 215 (20.6%) cases were associated with a chromosomal anomaly. Of 829 singleton SIA cases with normal karyotype, 221 (26.7%) were associated with other structural anomalies. Considering cases with normal karyotype, the total prevalence per 10 000 births was 1.6 (95% CI 1.5 to 1.7) for SIA, 0.9 (95% CI 0.8 to 1.0) for duodenal atresia and 0.7 (95% CI 0.7 to 0.8) for jejunoileal atresia (JIA). There was no significant trend in SIA, duodenal atresia or JIA prevalence over time (RR=1.0, 95% credible interval (CrI): 1.0 to 1.0 for each), but SIA and duodenal atresia prevalence varied by geographical location (p=0.03 and p=0.04, respectively). There was weak evidence of an increased risk of SIA in mothers aged less than 20 years compared with mothers aged 20 to 29 years (RR=1.3, 95% CrI: 1.0 to 1.8). CONCLUSION: This study found no evidence of a temporal trend in the prevalence of SIA, duodenal atresia or JIA, although SIA and duodenal atresia prevalence varied significantly between registers.

Hirschsprung's disease in the North of England: prevalence, associated anomalies, and survival.

INTRODUCTION: Hirschsprung's disease is the commonest congenital gut motility disorder, characterized by the absence of the enteric ganglion cells along the distal gut, which causes intestinal obstruction. Few publications report its epidemiology and temporal trends. METHODS: Cases of Hirschsprung's disease delivered during 1990 to 2008 in the North of England reported to the Northern Congenital Abnormality Survey (NorCAS) formed this population-based case series. RESULTS: Of 612,916 live births, 105 cases were reported to NorCAS. After excluding one diabetic and four multiple pregnancies, the live birth prevalence was 1.63 (95% confidence interval [CI], 1.33-1.98) per 10,000 live births. There was a significant temporal increase in the prevalence of Hirschsprung's disease (p = 0.020), from 1.26 (95% CI, 0.80-1.89) in 1990 to 1994 to 2.29 (95% CI, 1.53-3.29) in 2005 to 2008. The ratio of male to female cases was 2:1. Ten (10.0%) cases occurred with Down syndrome, one with Smith-Lemli-Opitz Syndrome, and six (6.0%) with associated structural anomalies. The remaining 83 (83.0%) cases were isolated. All cases were live born, but nine (9.0%) died in the first year of life. Hirschsprung's disease was not prenatally suspected in any case. Half the cases were diagnosed within 5 days postpartum, but time of diagnosis ranged from birth to 5 years of age. CONCLUSION: This study confirmed a male predominance and an association with Down syndrome, but also found a temporal increase in Hirschsprung's disease prevalence. No cases were suspected prenatally, but half were diagnosed within 5 days of life.