Infant health is an important comprehensive measure of the health in a society. Experiences during infancy can create durable and heritable patterns of social deprivation and illness ultimately producing health disparities in a population. This thesis sought to determine the relationship between maternal circumstances and infant mortality, morbidity and congenital anomaly rates in Winnipeg, Manitoba, Canada. Using logistic regression models the study explored provincial program screening data and administrative data held. The study found higher rates of congenital anomalies within two parent families and male infants. There was a relationship between hospital readmission rates and social and economic factors. Newborn hospital readmissions were associated with social support factors, while post-neonatal hospital readmissions were associated with contextual factors. Understanding the odds of infant mortality, morbidity and congenital anomaly in relation to different maternal socioeconomic factors may contribute to future health planning and the development of interventions that can improve health equity. / October 2015

Systematic Review / Advancements in medicine have resulted in decreased neonatal mortality and morbidity associated with congenital anomalies (CA). Unfortunately, the advantages of these developments have been confined to high-income countries (HICs), demonstrated by the comparatively high incidence of congenital anomalies in low and low-middle-income countries (LLMICs). Evidence suggests that neonates in LLMICs encounter considerably more barriers to care than those in HICs due to a malfunctioning referral system and poorly implemented health policies that hinder the timely provision of care. As many CA are now accepted as surgically treatable, the purpose of this study was to understand what inhibits the success of a neonate from obtaining surgery in LLMICs and how that could be improved. Seven databases were searched in this systematic review to identify articles on neonates with surgically treatable CA. A total of 370 studies were identified for screening; 16 were included in the final analysis. Studies were screened and selected individually by two researchers based on the research question, and all disagreements were resolved jointly. Studies were reviewed for factors affecting the delivery of surgical treatment and were then coded as a barrier or a facilitator. Barriers to care were identified in every study, and suggested facilitators were offered by the authors, but these facilitators were not tested in the studies. This study contributes to the literature by providing additional detail on what is known about the surgical referral system in LLMICs. The study findings will inform policymakers and local governments of the realities faced by neonates and their caregivers while navigating through the surgical referral system and establish the need for alternate policy implementation strategies. / Thesis / Master of Science (MSc) / Congenital anomalies (CA) have been identified as a significant contributor to the global burden of disease, accounting for 25.3-38.8 million disability-adjusted life-years worldwide. Many CA have been classified as surgically treatable however, approximately 295,000 neonates die annually due to these conditions. As 94% of CA occur in low- and low- middle-income countries (LLMICs), this study aims to elucidate any barriers and facilitators that may influence accessing surgical treatment. A systematic review has been selected to synthesize the literature regarding what is known about accessing surgery for neonates with CA in LLMICs.

Yes / Objectives Congenital anomaly (CA) are a leading cause of disease, death and disability for children throughout the world. Many have complex and varying healthcare needs which are not well understood. Our aim was to analyse the healthcare needs of children with CA and examine how that healthcare is delivered. Design Secondary analysis of observational data from the Born in Bradford study, a large prospective birth cohort, linked to primary care data and hospital episode statistics. Negative binomial regression with 95% CIs was performed to predict healthcare use. The authors conducted a subanalysis on referrals to specialists using paper medical records for a sample of 400 children. Setting Primary, secondary and tertiary healthcare services in a large city in the north of England. Participants All children recruited to the birth cohort between March 2007 and December 2011. A total of 706 children with CA and 10 768 without CA were included in the analyses. Primary and secondary outcome measures Healthcare use for children with and without CA aged 0 to <5 years was the primary outcome measure after adjustment for confounders. Results Primary care consultations, use of hospital services and referrals to specialists were higher for children with CA than those without. Children in economically deprived neighbourhoods were more likely to be admitted to hospital than consult primary care. Children with CA had a higher use of hospital services (β 1.48, 95% CI 1.36 to 1.59) than primary care consultations (β 0.24, 95% CI 1.18 to 0.30). Children with higher educated mothers were less likely to consult primary care and hospital services. Conclusions Hospital services are most in demand for children with CA, but also for children who were economically deprived whether they had a CA or not. The complex nature of CA in children requires multidisciplinary management and strengthened coordination between primary and secondary care. / research by a PhD candidate supported by a Bradford University studentship, in conjunction with the White Rose Consortium, and the National Institute for Health Research (NIHR), Collaboration for Leadership in Applied Health Research and Care (CLAHRC) Yorkshire and Humber programme 'Healthy Children Healthy Families Theme', IS-CLA-0113-10020.

The field of prenatal screening and diagnosis has developed rapidly over the past half-century, enabling possibilities for detecting anomalies in reproduction that were never before contemplated. A simple blood sample can aid in the identification of several conditions in the fetus early in the pregnancy. If a fetus is found to be affected by Down syndrome, anencephalus, spina bifida, or Edward's syndrome, a decision must then be made whether to continue or terminate the pregnancy. As prenatal screening becomes increasingly commonplace and part of routine maternal care, researchers are faced with the challenge of understanding its effects at the level of the population and monitoring trends over time. Greater uptake of prenatal screening, when followed by prenatal diagnosis and termination, has important implications for both congenital anomaly surveillance and infant and fetal mortality indicators. Research in Canada suggests that this practice has led to reductions in the congenital-anomaly specific infant mortality rate and increases in the stillbirth rate.(1, 2) The current study is a population-based, epidemiological exploration of demographic predictors of maternal serum screening (MSS) and amniocentesis uptake, with special attention to variations in birth outcomes resulting from different patterns of use. To accomplish our objectives, multiple data sources (vital statistics, hospital and physician services, cytogenetic and MSS laboratory information) were compiled to create a comprehensive maternal-fetal-infant dataset. Data spanned a six-year period (2000-2005) and involved 93,171 pregnancies. A binary logistic regression analysis found that First Nations status, rural-urban health region of residence, maternal age group, and year of test all significantly predicted MSS use. Uptake was lower in women living in a rural health region, First Nations women, and those under 30 years of age. The study dataset identified ninety-four terminations of pregnancy following detection of a fetal anomaly (TOPFA), which led to a lower live birth prevalence of infants with Down syndrome, Trisomy 18, and anencephalus. While a significant increasing trend was observed for the overall infant mortality rate in Saskatchewan between 2001-2005, a clear trend in one direction or the other could not be seen in regards to infant deaths due to congenital anomaly. First Nations status and maternal age were important predictors of both MSS and amniocentesis testing, and appeared to influence the decision to continue or terminate an affected pregnancy. The fact that First Nations women were less likely to screen (9.6% vs. 28.4%) and to have diagnostic follow-up testing (18.5% vs. 33.5%), meant that they were less likely to obtain a prenatal diagnosis when the fetus had a chromosomal anomaly compared to other women (8.3% vs. 27.0%). This resulted in a lower TOPFA rate compare to the rest of the population (0.64 vs. 1.34, per 1,000 pregnancies, respectively) and a smaller difference between the live birth prevalence and incidence of Down syndrome and Trisomy 18 for First Nations women. Women under 30 years of age were much less likely to receive a prenatal diagnosis when a chromosomal anomaly was present (18.4% vs. 31.8%). While risk for a chromosomal anomaly is considerably lower for younger mothers, 53.5% of all pregnancies with chromosomal anomalies and 40.7% of DS pregnancies belonged to this group. Consistent with other studies pregnancy termination rates following a prenatal congenital anomaly diagnosis are high (eg. 74.1% of prenatally diagnosed Down syndrome or Trisomy 18 cases), but these rates may be misleading in that they are based on women who chose to proceed to prenatal diagnosis. The fact that two-thirds (67.3%) of Saskatchewan women who received an increased-risk result declined amniocentesis, helps to put this finding into context. Strong surveillance systems and reasonable access to research datasets will be an on-going challenge for the province of Saskatchewan and should be viewed as a priority. Pregnancies and congenital anomalies are two particularly challenging outcomes to study in the absence of perinatal and congenital anomaly surveillance systems. Still pregnancies that never reach term must be accounted for, in order to describe the true state of maternal-fetal-infant health and to study its determinants. While our study was able to identify some interesting trends and patterns, it is only a snapshot in time. Key to the production of useful surveillance and evaluation is timely information. The current system is not timely, nor is it user-friendly for researchers, health regions or governments. Data compilation for the current study was a gruelling and cumbersome process taking more than five years to complete. A provincial overhaul is warranted in both the mechanism by which researchers access data and in the handling of data. The Better Outcomes Registry & Network (BORN) in Ontario is an innovative perinatal and congenital anomaly surveillance system worthy of modelling.(3) Academic papers in non-ethics' journals typically focus on the technical or programmatic aspects of screening and do not effectively alert the reader to the complex and profound moral dilemmas raised by the practice. A discussion of ethics was felt necessary to ensure a well-rounded portrayal of the issue, putting findings into context and helping to ensure their moral relevance did not remain hidden behind the scientific complexities. Here I lay out the themes of the major arguments in a descriptive manner, recognizing that volumes have been written on the ethics of both screening and abortion. A major ethical tension arising within the context of population based prenatal screening is the tension between community morality and the principle of respect for personal autonomy. Prenatal screening and selective termination have been framed as a purely private or medical matter, thereby deemphasizing the social context in which the practice has materialized and the importance of community values. I consider how a broader sociological perspective, one that takes into account the relevance of community values and limitations of the clinical encounter, could inform key practice and policy issues involving prenatal screening. It is my position that the community's voice must be invited to the conversation and public engagement processes should occur prior to any additional expansion in programming. I end with a look at how the community’s voice might be better heard on key issues, even those issues that at first glance seem to be the problems of individuals. As Rayna Rapp (2000) (4) poignantly observed, women today are 'moral pioneers' not by choice, but by necessity. By elucidating the effects of prenatal screening and the extent of the practice of selective termination in the province, the true occurrence of important categories of congenital anomalies in our province can be observed. Without this knowledge it is very difficult to identify real increases or decreases in fetal and infant mortality over time as the etiologies are complex. Evidence suggests a large and increasing impact of TOPFA on population-based birth and mortality statistics nationally, whereas in Saskatchewan the effect appears to be less pronounced. Appreciation of the intervening effect of new reproductive technologies will be increasingly important to accurate surveillance, research, and evaluation as this field continues to expand.

Objective: To determine if paternal preconception exposure to ionizing radiation through uranium mining increases the risk of congenital anomaly (CA) in offspring. Methods: A population-based matched case-control study was conducted. Cases were infants with CAs recorded in the Canadian Congenital Anomalies Surveillance System and born alive in Ontario 1979-86 (ICD-9 codes 740-759); controls were liveborn infants without CAs identified from Ontario birth certificates and individually matched to cases (case-control file {CCF}). Exposed fathers were identified through the linkage of the CCF to the Mining Master File or the National Dose Registry file, which include those who worked in Ontario uranium mines 1952-1986. For men who linked with a case or control child, radon, gamma and total gonadal doses were estimated for three preconception periods: entire, 3-months and 6-months. Odds ratios were estimated using conditional logistic regression. Results: Linkage of 28,991 uranium miners and 40,482 case-control pairs of fathers and offspring in the CCF identified 431 discordant pairs. There was no evidence of increased risk of a child having a CA if the father was ever a uranium miner before conception of the child (OR=0.89, 95% CI=0.74–1.08). Since gamma radiation (especially during the 6-month preconception period) is more biologically relevant to gonads than radon, further analyses were performed on 117 discordant pairs where data on gamma exposures were available. When ever/never miner, exposed to gamma (yes/no), and gamma dose-response variables were all in the model, there was no ever/never miner effect (OR=1.20, 95% CI=0.85–1.69, p-value=0.30), an inverse association for exposure to gamma (OR=0.42, 95% CI=0.25–0.71, p-value=0.001), but most importantly, there was no statistically significant dose-response relationship between gamma dose during the 6-month preconception period and all CAs (OR=1.15 per loge {mSv+0.01}, 95% CI=0.83–1.59, p-value=0.40). Similarly, no dose-response relationship was observed for exposure to gamma radiation in the 3-month preconception period, or for radon or total gonadal radiation in the 3- or 6-month preconception periods. Conclusion: There was no increased risk of a CA among liveborn children of Ontario uranium miners who were exposed to radon, gamma or total radiation during the 3- or 6-month periods before conception.

Objective: To determine if paternal preconception exposure to ionizing radiation through uranium mining increases the risk of congenital anomaly (CA) in offspring. Methods: A population-based matched case-control study was conducted. Cases were infants with CAs recorded in the Canadian Congenital Anomalies Surveillance System and born alive in Ontario 1979-86 (ICD-9 codes 740-759); controls were liveborn infants without CAs identified from Ontario birth certificates and individually matched to cases (case-control file {CCF}). Exposed fathers were identified through the linkage of the CCF to the Mining Master File or the National Dose Registry file, which include those who worked in Ontario uranium mines 1952-1986. For men who linked with a case or control child, radon, gamma and total gonadal doses were estimated for three preconception periods: entire, 3-months and 6-months. Odds ratios were estimated using conditional logistic regression. Results: Linkage of 28,991 uranium miners and 40,482 case-control pairs of fathers and offspring in the CCF identified 431 discordant pairs. There was no evidence of increased risk of a child having a CA if the father was ever a uranium miner before conception of the child (OR=0.89, 95% CI=0.74–1.08). Since gamma radiation (especially during the 6-month preconception period) is more biologically relevant to gonads than radon, further analyses were performed on 117 discordant pairs where data on gamma exposures were available. When ever/never miner, exposed to gamma (yes/no), and gamma dose-response variables were all in the model, there was no ever/never miner effect (OR=1.20, 95% CI=0.85–1.69, p-value=0.30), an inverse association for exposure to gamma (OR=0.42, 95% CI=0.25–0.71, p-value=0.001), but most importantly, there was no statistically significant dose-response relationship between gamma dose during the 6-month preconception period and all CAs (OR=1.15 per loge {mSv+0.01}, 95% CI=0.83–1.59, p-value=0.40). Similarly, no dose-response relationship was observed for exposure to gamma radiation in the 3-month preconception period, or for radon or total gonadal radiation in the 3- or 6-month preconception periods. Conclusion: There was no increased risk of a CA among liveborn children of Ontario uranium miners who were exposed to radon, gamma or total radiation during the 3- or 6-month periods before conception.