Congenital anomalies (CAs) are the leading cause of infant mortality and one of the leading causes of death for young children in developed countries. As significant improvements have been seen world-wide in controlling childhood infectious disease and issues related to poor nutrition, CAs are now making a proportionally bigger impact on the health of the worlds children. In addition to the impact of CA status on the individual child and ones family, prevalence of CAs has a significant impact on the population, as children with birth defects can cost the system a great deal of money in the provision of specialized health and education services.<p>When conducting surveillance of five selected CAs between 1990 and 1999, Saskatchewan Health found significant regional differences in the prevalence of these CAs. The purpose of this study is to ascertain whether or not there is a regional difference in all types of CAs, to assess whether or not any regional disparities also exist in the use of health care services by children with and without CAs and to determine what factors influence childrens use of health care services in the study population.<p>This study follows a birth cohort of 17,414 children (9169 cases and 8245 controls) born between January 1, 1994 to December 31, 1998 until their 5th birthday, death or emigration out of Saskatchewan. Through graphical analysis, it was revealed that while an overall regional difference does not exist in the prevalence of CAs in Saskatchewan, there are regional differences in the prevalence of 13 of the 22 specific categories of conditions studied. One-way ANOVAs showed that children with CAs have higher numbers of physician visits (p<0.001) and hospitalizations (p<0.001), and longer lengths of stay in hospital (p<0.001) than children without CAs. Regional differences were found for all outcome variables for the total population, and for children with and without CAs. The outcome with the most substantial differences between children with and without CAs was length of stay, which may indicate differential access to outpatient services throughout the province. Finally, using Andersons theoretical framework of factors that influence the use of health care services (need characteristics, predisposing characteristics and enabling characteristics) three negative binomial models were built to examine childrens use of health care services using variables from each category. <p>This study found significant regional differences for all outcome measures studied, and found that region of residence was a significant predictor of childrens use of health care services even after accounting for a variety of other maternal and child factors.

Congenital anomalies (CAs) are the leading cause of infant mortality and one of the leading causes of death for young children in developed countries. As significant improvements have been seen world-wide in controlling childhood infectious disease and issues related to poor nutrition, CAs are now making a proportionally bigger impact on the health of the worlds children. In addition to the impact of CA status on the individual child and ones family, prevalence of CAs has a significant impact on the population, as children with birth defects can cost the system a great deal of money in the provision of specialized health and education services.<p>When conducting surveillance of five selected CAs between 1990 and 1999, Saskatchewan Health found significant regional differences in the prevalence of these CAs. The purpose of this study is to ascertain whether or not there is a regional difference in all types of CAs, to assess whether or not any regional disparities also exist in the use of health care services by children with and without CAs and to determine what factors influence childrens use of health care services in the study population.<p>This study follows a birth cohort of 17,414 children (9169 cases and 8245 controls) born between January 1, 1994 to December 31, 1998 until their 5th birthday, death or emigration out of Saskatchewan. Through graphical analysis, it was revealed that while an overall regional difference does not exist in the prevalence of CAs in Saskatchewan, there are regional differences in the prevalence of 13 of the 22 specific categories of conditions studied. One-way ANOVAs showed that children with CAs have higher numbers of physician visits (p<0.001) and hospitalizations (p<0.001), and longer lengths of stay in hospital (p<0.001) than children without CAs. Regional differences were found for all outcome variables for the total population, and for children with and without CAs. The outcome with the most substantial differences between children with and without CAs was length of stay, which may indicate differential access to outpatient services throughout the province. Finally, using Andersons theoretical framework of factors that influence the use of health care services (need characteristics, predisposing characteristics and enabling characteristics) three negative binomial models were built to examine childrens use of health care services using variables from each category. <p>This study found significant regional differences for all outcome measures studied, and found that region of residence was a significant predictor of childrens use of health care services even after accounting for a variety of other maternal and child factors.

Yes / Congenital anomalies (CAs) are a common cause of infant death and disability. We linked children from a large birth cohort to a routine primary care database to detect CA diagnoses from birth to age 5 years. There could be evidence of underreporting by CA registries as they estimate that only 2% of CA registrations occur after age 1 year. Methods CA cases were identified by linking children from a prospective birth cohort to primary care records. CAs were classified according to the European Surveillance of CA guidelines. We calculated rates of CAs by using a bodily system group for children aged 0 to <5 years, together with risk ratios (RRs) with 95% CIs for maternal risk factors. Results Routinely collected primary care data increased the ascertainment of children with CAs from 432.9 per 10 000 live births under 1 year to 620.6 per 10 000 live births under 5 years. Consanguinity was a risk factor for Pakistani mothers (multivariable RR 1.87, 95% CI 1.46 to 2.83), and maternal age >34 years was a risk factor for mothers of other ethnicities (multivariable RR 2.19, 95% CI 1.36 to 3.54). Education was associated with a lower risk (multivariable RR 0.78, 95% CI 0.62 to 0.98). Conclusion 98% of UK CA registrations relate to diagnoses made in the first year of life. Our data suggest that this leads to incomplete case ascertainment with a further 30% identified after age 1 year in our study. Risk factors for CAs identified up to age 1 year persist up to 5 years. National registries should consider using routine data linkage to provide more complete case ascertainment after infancy. / Collaboration for Leadership in Applied Health Research and Care Yorkshire and Humber programme ‘Healthy Children Healthy Families Theme’ (IS-CLA-0113–10020).

Thesis (M.S.)--Boston University / PLEASE NOTE: Boston University Libraries did not receive an Authorization To Manage form for this thesis or dissertation. It is therefore not openly accessible, though it may be available by request. If you are the author or principal advisor of this work and would like to request open access for it, please contact us at open-help@bu.edu. Thank you. / 2031-01-01

This paper has been undertaken, first, to contribute several more cases of various congenital anomalies to the literature on human genetics, and, second, by an analysis of the genealogies, to determine the possible modes of transmission of these anomalies.

No description available.

No / Ester Garne and Joan Morris are correct that the Born in Bradford birth cohort data for congenital anomalies do not include pregnancies that terminated before 28 weeks: the data we report refer to liveborn and stillborn infants only. We reported a protective effect of education on anomaly rates but we did not propose any theory to account for the finding because we had no further data that related to this observation.

Introduction: The past decade has seen a significant shift in the demographics of childbearing in the United States. The average age of women at first birth has steadily increased over the last four decades, with the birth rate for women aged 40-44 more than doubling from 1990 to 2012. The aim of this study was to evaluate the risk of adverse pregnancy outcomes with increasing maternal age and paternal age using national health statistics data. Methods: The study population included 3 495 710 live births among women 15-54+ years of age from the 2012 Natality dataset. Outcomes were modeled for both maternal and paternal 5-year age groups using logistic regression analysis to calculate adjusted and unadjusted odds ratios (AORs, ORs) with 95% confidence intervals. Analysis was performed to examine the association between maternal and paternal age across seven different adverse outcomes, including low birthweight, low Apgar score, early term pregnancies, abnormal newborn conditions and presence of congenital anomalies. Results: The risks for most outcomes paralleled with advanced maternal age and paternal age. Logistic regression models demonstrated that maternal age groups 40-44, 45-49 and 50-54+ were at highest risk for an adverse pregnancy outcome compared to the 30-34 year old reference group. Abnormal newborn conditions including assisted ventilation, NICU admission and use of antibiotics were significant for all age groups 40 and older. Low Apgar score, low birthweight and early term pregnancies were significantly higher among mothers as well as fathers with advanced age. Conclusions: These findings suggest that advanced maternal age is a risk factor for a variety of adverse pregnancy outcomes. Women aged 35-39 have a similar risk of an adverse outcome as their younger counterparts. This suggests that perhaps we should begin assessing high-risk pregnancies as starting at an older age versus the de facto standard of 35.

The purpose of this thesis is to investigate the link between advanced paternal ages (APA) (i.e., APA ≥ 35 years and APA ≥ 50 years) and genetic diseases and congenital anomalies. Currently, the relationship between both advanced paternal ages and genetic diseases and congenital anomalies remains unclear. However, there is room for improvement to systematically investigate the relationship between specific congenital anomalies in newborns and advanced paternal ages. More recently, the link between advanced paternal age (as opposed to existing studies analyzing advanced maternal age alone) and genetic diseases has been recognized by researchers, epidemiologists, and various health experts. Thus, this study serves to examine the effect of advanced paternal ages on the likelihood of birth defects using a new dataset intended to discover those relationships. I create three different datasets and utilize 12 statistical models to analyze the relationship between advanced paternal ages (APA ≥ 35 years and APA ≥ 50 years) (while including advanced maternal age or AMA [AMA ≥ 35 years]) and genetic diseases and congenital anomalies. I focus on Down syndrome, cleft lip with or without cleft palate, and meningocele/spina bifida and explore the relationship between both advanced parental ages. I explore whether (a) the advanced paternal ages and (b) the advanced maternal age increase the likelihood of newborn reproductive defects: (a) Down syndrome, (b) cleft lip with or without cleft palate, and (c) meningocele/spina bifida. This study includes all U.S. births between 2016 and 2019 using the CDC Natality Registry[1] database (2020). I perform the analyses using logistic regression models (to estimate odds ratios) that provide explanations of the relationship between each birth defect and advanced paternal ages. Analysis results suggest that advanced paternal ages (APA ≥ 35 years and APA ≥ 50 years) are positively associated with Down syndrome, whereas advanced paternal age (APA ≥ 35 years) is negatively associated with cleft lip with or without cleft palate. The results from the advanced paternal ages models do not suggest any causal relationship/effect on spina bifida. The results of this study are expected to offer some insight of the following reproductive defects: (a) Down syndrome, (b) cleft lip with or without cleft palate, and (c) meningocele/spina bifida. [1] Collection of data for all variables used in this research are obtained with full permission from: United States Department of Health and Human Services (US DHHS), Centers for Disease Control and Prevention" "(CDC), National Center for Health Statistics (NCHS), Division of Vital Statistics, Natality public-use data 2016-2019, on CDC" WONDER Online Database, October 2020. Accessed at http://wonder.cdc.gov/natality-expanded-current.html on Jun 6, 2021, 1:24:47 PM;" United States Department of Health and Human Services (US DHHS), Centers for Disease Control and Prevention" "(CDC), National Center for Health Statistics (NCHS), Division of Vital Statistics, Natality public-use data 2016-2019, on CDC" "WONDER Online Database, October 2020. Accessed at http://wonder.cdc.gov/natality-expanded-current.html on Jun 6, 2021, 1:29:36 PM;" And United States Department of Health and Human Services (US DHHS), Centers for Disease Control and Prevention""(CDC), National Center for Health Statistics (NCHS), Division of Vital Statistics, Natality public-use data 2016-2019, on CDC" "WONDER Online Database, October 2020. Accessed at http://wonder.cdc.gov/natality-expanded-current.html on Jun 6, 2021, 1:07:36 PM."

Congenital anomalies are a leading cause of infant death and disability and their incidence varies between ethnic groups in the UK. Rates of infant death are highest in children of Pakistani origin, and congenital anomalies are the most common cause of death in children younger than 12 in this ethnic group. We investigated the incidence of congenital anomalies in a large multiethnic birth cohort to identify the causes of the excess of congenital anomalies in this community. Methods: We obtained questionnaire data from the mothers of children with one or more anomalies from the Born in Bradford study, a prospective birth cohort study of 13 776 babies and their families in which recruitment was undertaken between 2007 and 2011. Details of anomalies were prospectively reported to the study and we cross checked these details against medical records. We linked data for anomalies to maternal questionnaire and clinical data gathered as part of the Born in Bradford study. We calculated univariate and multivariate risk ratios (RRs) with 95% CIs for various maternal risk factors. Findings: Of 11 396 babies for whom questionnaire data were available, 386 (3%) had a congenital anomaly. Rates for congenital anomaly were 305·74 per 10 000 livebirths, compared with a national rate of 165·90 per 10 000. The risk was greater for mothers of Pakistani origin than for those of white British origin (univariate RR 1·96, 95% CI 1·56–2·46). Overall, 2013 (18%) babies were the offspring of first-cousin unions. These babies were mainly of Pakistani origin—1922 (37%) of 5127 babies of Pakistani origin had parents in first-cousin unions. Consanguinity was associated with a doubling of risk for congenital anomaly (multivariate RR 2·19, 95% CI 1·67–2·85); we noted no association with increasing deprivation. 31% of all anomalies in children of Pakistani origin could be attributed to consanguinity. We noted a similar increase in risk for mothers of white British origin older than 34 years (multivariate RR 1·83, 95% CI 1·14–3·00). Maternal education to degree level was protective (0·53, 95% CI 0·38–0·75), irrespective of ethnic origin. Interpretation: Consanguinity is a major risk factor for congenital anomaly. The risk remains even after adjustment for deprivation, and accounts for almost a third of anomalies in babies of Pakistani origin. High levels of educational attainment are associated with reduced risk in all ethnic groups. Our findings will be valuable in health promotion and public health, and to those commissioning antenatal, paediatric, and clinical genetic services. Sensitive advice about the risks should be provided to communities at increased risk, and to couples in consanguineous unions, to assist in reproductive decision making. Funding: National Institute for Health Research Collaboration for Leadership in Applied Health Research and Care programme.