Epidemiology Of Congenital Anomalies Research Articles

Prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China, 2010–2020

To describe the prevalence and death rate of birth defects from population-based surveillance in Hunan Province, China. Data were obtained from the population-based Birth Defects Surveillance System in Hunan Province, China (2010–2020). The surveillance population included all live births, stillbirths, infant deaths, and legal terminations of pregnancy from 28 weeks of gestation to 42 days after birth between 2010 and 2020 when the mother resided in the surveillance area (Liuyang County and Shifeng District, Hunan Province). The prevalence of birth defects is the number of birth defects per 1000 infants (‰). The death rate of birth defects is the number of deaths attributable to birth defects per 100 birth defects (%). The prevalence and death rate with 95% confidence intervals (CI) were calculated by the log-binomial method. Crude odds ratios (ORs) were calculated to examine the association of each demographic characteristic with birth defects. Our study included 228,444 infants, and 4453 birth defects were identified, with a prevalence of 19.49‰ (95%CI 18.92–20.07). Congenital heart defects were the most common specific defects (5.29‰), followed by limb defects (4.01‰). Birth defects were more common in males than females (22.34‰ vs. 16.26‰, OR = 1.38, 95%CI 1.30–1.47), in premature birth than not (91.82‰ vs. 16.14‰, OR = 6.16, 95%CI 5.72–6.65), in birth weight < 2500 g (98.26‰ vs. 16.22‰, OR = 6.61, 95%CI 6.11–7.15) or > 4000 g (19.48‰ vs. 16.22‰, OR = 1.21, 95%CI 1.03–1.42) than birth weight 2500–4000 g, in hospitalized deliveries than other institutions (22.16‰ vs. 11.74‰, OR = 1.91, 95%CI 1.76–2.07), in multiple births than singletons (28.50‰ vs. 19.28‰, OR = 1.49, 95%CI 1.27–1.76), in maternal age < 20 years (26.33‰ vs. 18.69‰, OR = 1.42, 95%CI 1.15–1.76) or > = 35 years (24.31‰ vs. 18.69‰, OR = 1.31, 95%CI 1.18–1.45) than maternal age 25–29 years, and in number of pregnancies > = 4 (22.91‰ vs. 18.92‰, OR = 1.22, 95%CI 1.10–1.35) than the first pregnancy. A total of 747 deaths attributable to birth defects were identified, including 603 (80.72%) stillbirths, 75 (10.04%) deaths within 7 days after birth, 46 (6.16%) deaths in 7–27 days after birth, 23 (3.08%) deaths in 28–42 days after birth. The death rate of birth defects was 16.78% (95%CI 15.57–17.98). Deaths attributable to birth defects accounted for 51.09% (747/1462) of all deaths. Central nervous system defects had the highest death rate (90.27%), and neonatal genetic metabolic defects had the lowest death rate (0.39%). In summary, we have described the prevalence and epidemiology of birth defects from population-based surveillance in Hunan Province, China, 2010–2020. There were differences in the prevalence and death rate of birth defects between population-based surveillance and hospital-based surveillance.

Epidemiology of birth defects in a national hospital-based birth defect surveillance spot in Southern Jiangsu, China, 2014-2018.

As the only hospital-based national surveillance spot of birth defects (BDs) in Changzhou city located in the economically developed eastern part of China, Changzhou Maternal and Child Health Care Hospital has encountered serious challenges in BD prevention. This study aimed to describe the epidemiology of total BDs born in the hospital from 2014 to 2018. The data were collected from the national hospital-based birth defect surveillance system. BD prevalence was calculated by Poisson distribution. Trends of prevalence and the associations regarding information with BDs were analyzed by Poisson regression. The reported prevalence of total BDs was 313.92 (95% confidence interval [CI]: 299.59-328.76) per 10,000 perinatal infants (PIs), while the perinatal prevalence of BD was 160.19 (95% CI: 150.00-170.89) per 10,000 PIs. A remarkable uptrend in the prevalence of BDs was noticed with a prevalence rate ratio (PRR) of 1.09 (95% CI: 1.04-1.14) and 1.13 (95% CI: 1.09-1.16), respectively. Congenital heart disease (CHD), cleft lip with or without cleft palate (CL/P), congenital malformation of the kidney (CMK), polydactyly, Down syndrome (DS), cystic hygroma, neural tube defect (NTD), and congenital talipes equinovarus (CTE) were common types of total BDs. Mothers living in the urban area (PRR = 1.67, 95% CI:1.50-1.87), male fetuses (PRR = 1.16, 95% CI: 1.05-1.28), and maternal age younger than 20 (PRR = 2.28, 95% CI: 1.60-3.25) and 25 years (PRR = 1.41, 95% CI: 1.22-1.63) or older than 35 years (PRR = 1.18, 95% CI: 1.00-1.40) were risk factors for BD occurrence. The reported prevalence of total BDs was nearly two times higher than the perinatal prevalence of BDs in PIs, and the ranks of total BDs and BDs in PIs were different. Mothers living in the urban area, male fetuses, and maternal ages younger than 25 or older than 35 years were risk factors for BD incidence. Thus, improving prenatal examination technology, expanding the surveillance time quantum of BDs, and keeping maternal health may be warranted.

Epidemiology of birth defects based on a birth defects surveillance system in southwestern China and the associated risk factors.

Birth defects (BDs) are associated with many potential risk factors, and its causes are complex. This study aimed to explore the epidemiological characteristics of BDs in Guangxi of China and the associated risk factors of BDs. BDs data of perinatal infants (PIs) were obtained from the Guangxi birth defects monitoring network between 2016 and 2020. Univariate Poisson regression was used to calculate the prevalence-rate ratios (PRR) to explore the changing trends of BDs prevalence by year and the correlation between the regarding of characteristics of BDs (including infant gender, maternal age, and quarter) and BDs. Clinical characteristics of PIs with BDs and general characteristics of their mothers were documented, and Spearman correlation analysis was used to explore the potential associated risk factors of BDs. Between 2016 and 2020, 44,146 PIs with BDs were monitored, with an overall BDs prevalence of 121.71 (95% CI: 120.58-122.84) per 10,000 PIs, showing a significant increase trend (PRR = 1.116, 95% CI: 1.108-1.123), especially the prevalence of congenital heart defects (CHDs) that most significantly increased (PRR = 1.300, 95% CI: 1.283-1.318). The 10 most common BDs were CHDs, polydactyly, congenital talipes equinovarus, other malformation of external ear, syndactyly, hypospadias, cleft lip with cleft palate, cleft lip, hemoglobin Bart's hydrops fetalis syndrome (BHFS), and congenital atresia of the rectum and anus. BDs were positively correlated with pregnant women's age (R = 0.732, P < 0.01) and education level (R = 0.586, P < 0.05) and having pre-gestational diabetes mellitus (PGDM)/gestational diabetes mellitus (GDM) (R = 0.711, P < 0.01), while when the pregnant women had a family history of a dead fetus (R = -0.536, P < 0.05) and a birth of a fetus with BDs (R = -0.528, P < 0.05) were negatively correlated with BDs. A significant increase in the prevalence of BDs was detected between 2016 and 2020 in Guangxi, especially the prevalence of CHDs that most significantly increased. Older maternal age, higher maternal education level, and having PGDM before pregnancy or GDM in early pregnancy were the risk factors for BDs.

Causal Knowledge as a Prerequisite for Interrogating Bias: Reflections on Hernán et al. 20 Years Later.

In their seminal 2002 paper, "Causal Knowledge as a Prerequisite for Confounding Evaluation: An Application to Birth Defects Epidemiology," Hernán et al. (Am J Epidemiol. 2002;155(2):176-184) emphasized the importance of using theory rather than data to guide confounding control, focusing on colliders as variables that share characteristics with confounders but whose control may actually introduce bias into analyses. In this commentary, we propose that the importance of this paper stems from the connection the authors made between nonexchangeability as the ultimate source of bias and structural representations of bias using directed acyclic graphs. This provided both a unified approach to conceptualizing bias and a means of distinguishing between different sources of bias, particularly confounding and selection bias. Drawing on examples from the paper, we also highlight unresolved questions about the relationship between collider bias, selection bias, and generalizability and argue that causal knowledge is a prerequisite not only for identifying confounders but also for developing any hypothesis about potential sources of bias.

Epidemiology of Birth Defects in Eastern China and the Associated Risk Factors

BackgroundThis study aimed to survey the overall situation of birth defects (BDs) among citizens of Hangzhou, China, and the risk factors of different BD types.Material/MethodsWe collected the data of 4349 perinatal infants with BDs in Hangzhou. The potentially associated risk factors of BDs were recorded and logistic regression analysis was used to predict the high incidence of BDs.ResultsAmong all perinatal infants with BDs, there were 4105 (94.3%) single births, 225 (5.2%) twin births, and 10 (0.2%) multiple births. In clinical outcomes, there were 2477 (57.0%) live births, 1806 (41.5%) dead fetuses, and 11 (0.3%) stillbirths. Down syndrome ranked first, accounting for 30.7% of the total births, followed by cleft lip and polydactyly. Low family income, nulliparity, high parity, high education level, and taking contraceptives in early pregnancy were found to be risk factors of Down syndrome. Low parity, low education level, and pesticide exposure were found to be risk factors of cleft lip. For polydactyly, young age of the mother and a parity above 0 were identified as risk factors.ConclusionsDifferent risks factors can influence BD development and potentially help to predict specific BD types, such as demographic features and harmful exposure in early pregnancy.

The association between ambient air pollution and birth defects in five major ethnic groups in Liuzhou, China

BackgroundStudies suggest that exposure to ambient air pollution during pregnancy may be associated with increased risks of birth defects (BDs), but conclusions have been inconsistent. This study describes the ethnic distribution of major BDs and examines the relationship between air pollution and BDs among different ethnic groups in Liuzhou city, China.MethodsSurveillance data of infants born in 114 registered hospitals in Liuzhou in 2019 were analyzed to determine the epidemiology of BDs across five major ethnic groups.Concentrations of six air pollutants (PM2.5, PM10, SO2, CO, NO2, O3) were obtained from the Liuzhou Environmental Protection Bureau. Logistic regression was used to examine the associations between ambient air pollution exposure and risk of BDs.ResultsAmong 32,549 infants, 635 infants had BDs, yielding a prevalence of 19.5 per 1000 perinatal infants. Dong ethnic group had the highest prevalence of BDs (2.59%), followed by Yao (2.57%), Miao (2.35%), Zhuang (2.07%), and Han (1.75%). Relative to the Han ethnic group, infants from Zhuang, Miao, Yao and Dong groups had lower risks of congenital heart disease, polydactyly, and hypospadias. The Zhuang ethnic group had higher risks of severe thalassemia, cleft lip and/or palate, and syndactyls. Overall BDs were positively correlated with air pollutants PM10 (aOR =1.14, 95% CI:1.12 ~ 2.43; aOR =1.51, 95% CI:1.13 ~ 2.03 for per 10μg/mg3 increment) and CO (aOR =1.36, 95% CI:1.14 ~ 2.48; aOR =1.75, 95% CI:1.02 ~ 3.61 for every 1 mg /m3 increment) in second and third month of pregnancy. SO2 was also significantly associated with BDs in the second month before the pregnancy (aOR = 1.31; 95% CI: 1.20 ~ 3.22) and third month of pregnancy (aOR =1.75; 95% CI:1.02 ~ 3.61). Congenital heart disease, polydactyl, cleft lip and/or palate were also significantly associated with PM10, SO2 and CO exposures. However, no significant association was found between birth defects and O3, PM2.5 and NO2 exposures (P > 0.05).ConclusionThis study provides a comprehensive description of ethnic differences in BDs in Southwest China and broadens the evidence of the association between air pollution exposure during gestation and BDs.

Birth defect mortality in India 1990-2017: estimates from the Global Burden of Disease data.

India is yet to establish a national surveillance for birth defects (congenital disorders). The objective of this study was to describe the epidemiology of birth defects in the neonatal, post-neonatal, and 1-4-year age groups, using modelled estimates from the Global Burden of Disease (GBD) database. We extracted age- and condition-specific birth defect mortality data and analysed the magnitude and trends of these conditions in India, and across Indian states. We compared these trends with other neonatal causes of mortality for the period 1990-2017. The results indicate that birth defects caused 37,104 (95%UI31,825-43,134) deaths in the early neonatal period and 27,120 (95%UI23,490-30,777) deaths in the post-neonatal period in 2017 in India. These rates were double and five times higher when compared with the whole group of middle- and high-income countries respectively. There was a small decline in birth defect mortality between 1990 and 2017. However, with the exception of orofacial clefts, the proportion of deaths caused by selected birth defects increased between 1990 and 2017, relative to other causes of child mortality. In 70% of states ranked in the high and middle Socio-demographic Index (SDI) category, birth defects were the third leading cause of neonatal mortality. The analysis identifies the need for establishing birth defects services in the country. It demonstrates that modelled estimates of the GBD could be used as the best available data for understanding the epidemiology of birth defects in low- and middle-income countries till surveillance systems are put in place.

Итоги мониторинга врожденных пороков развития в Республике Молдова за 10 лет

В статье представлены данные Национального регистра врожденных пороков развития (ВПР). Проведен анализ эпидемиологии ВПР: изучены популяционные частоты всех зарегистрированных пороков и отдельных нозологических форм и их структура, а также динамика частот пороков обязательного учета за период с 2009 по 2018 годы. The article presents the results of monitoring of congenital anomalies of the Republic of Moldova - the national register of Moldova, formed on the basis of the laboratory of prevention of hereditary pathology at the Institute of Mother and Child. The analysis of data for the period from 2009 to 2018. The article presents data on the epidemiology of congenital anomalies: population frequencies of all registered defects and individual nosological forms, the structure of developmental defects in the country, as well as the dynamics of the frequency of defects of mandatory accounting for the analyzed period of time.

Epidemiology of Birth Defects in Very Low Birth Weight Infants in Japan

To evaluate the mortality and morbidity of very low birth weight (VLBW) preterm infants with birth defects in Japan. Data were collected prospectively for infants weighing <1501g and born at <37weeks of gestation admitted to centers of the Neonatal Research Network of Japan during 2003-2016. We compared outcomes of infants with and without birth defects using Pearson χ2 test, Wilcoxon rank-sum test, log-rank test, nominal logistic regression analysis, and stratified analysis by birth defect subgroups. This study was approved by the Ethics Committee of Kyoto University Graduate School and Faculty of Medicine. Among 57 730 VLBW preterm infants, 3557 infants (6.2%) were born with birth defects. Chromosomal abnormalities, congenital heart defects, and congenital malformation of the digestive system were the most common categories. Among diseases, Trisomy 18, Down syndrome, and cleft palate were the most prevalent. There were significant differences between perinatal characteristics of infants with and without birth defects. Most categories of morbidity occurred more frequently in infants with birth defects compared with those without birth defects. The aOR for mortality during the neonatal intensive care unit admission was 10.6 (95% CI 9.5-11.7) for infants with birth defects. A stratified analysis identified birth defect categories with good, moderate, and poor prognoses. This detailed information about mortality and morbidity of preterm VLBW infants with birth defects should be useful for genetic counseling as well as prenatal and neonatal care, with the limitation that we lacked information about the timing of diagnosis, abortion, or stillbirth.

Prevalence of Congenital Anomalies in Newborns in Zabol: A Single Hospital Based Study

Background: Congenital anomalies are conditions of prenatal origin that are present at birth, potentially impacting an infant's health, development and survival. The birth of a newborn with congenital anomalies imposes financial and emotional burdens on families. The aim of this study was to investigate the epidemiology of congenital anomalies in 2014 in Zabol, Iran.&#x0D; &#x0D; Methods: This cross-sectional study was carried out in the Amir Al-Momenin Hospital between May of 2013 and April 2014. All the live born were included, and we have examined all newborns for the presence of congenital anomalies.&#x0D; &#x0D; Results: During the twelve months, 9,309 newborns were included to the study. Of them, 72 (0.8%) newborns were affected with a congenital malformation. The congenital anomalies affected significantly higher proportion of male newborns (66.7%) than female newborns (33.3%). Among of them, musculoskeletal system abnormalities account for 45.9% of the total abnormalities allocating the highest frequency to itself. Subsequently, central nervous system abnormality (19.4%), gastrointestinal anomaly (15.3%), urinary tract abnormality (9.7%), chromosomal abnormality (2.8%), and multiple anomalies (1.4%) were frequent, respectively.&#x0D; &#x0D; Conclusion: This study showed that prevalence of congenital anomalies is restively high in Zabol city. The results of this study identify the necessity of genetic counseling and early diagnosis to prevention, care and surveillance.

Epidemiology of birth defects based on a birth defect surveillance system in Southern Jiangsu, China, 2014–2018

Introduction Changzhou has been confronted with great challenges in birth defects (BDs) prevention, as the prevalence rates of BDs in Changzhou increased rapidly. The aims of this study were to describe the epidemiology of BDs in perinatal infants (PIs, including dead fetus, stillbirth, or live birth between 28 weeks of gestation and 7 days after birth) in Changzhou during the period from 2014 to 2018. Methods The BD surveillance data of PIs were collected from 56 hospitals of Changzhou. The prevalence rate of BDs with 95% confidence interval (CI) were calculated by Poisson distribution. Univariate and multivariate Poisson regression was performed to identify the changing trends of prevalence rates of BDs by year and the association of regarding BD characteristics including year, infant gender, maternal age, and season with BDs successively. Results From 2014 to 2018, there were a total of 238,712 PIs of which 1707 had BDs, with the average prevalence of 71.509 per 10,000 PIs, showing a remarkable uptrend (aPRR = 1.133, 95%CI: 1.094–1.173). The ten leading BDs were polydactyly, congenital heart defects (CHD), syndactyly, microtia, cleft lip and palate (CLP), hypospadias, cleft palate, other malformation of external ear (OMEE), congenital atresia of rectum and anus, and congenital talipes equinovarus (CTE). During the study period, the prevalence rates of polydactyly, CHD and syndactyly increased significantly (PRR = 1.195, 95%CI: 1.109–1.288, PRR = 1.194, 95%CI: 1.105–1.291, and PRR = 1.143, 95%CI: 1.007–1.297, respectively); the prevalence rates of congenital esophageal atresia decreased significantly (PRR = 0.571, 95%CI: 0.395–0.826). The risk of BDs was higher in male PIs versus female PIs (aPRR = 1.235, 95%CI: 1.123–1.358). Conclusions A significant increase in the prevalence of BDs was detected from 2014 to 2018 in Changzhou. CHD, polydactyly, and syndactyly increased much and congenital esophageal atresia declined much. Male PIs was risk factor for occurrence of BDs. Collecting information on factors associated with BDs, setting the report time of BDs system at smaller gestational age so as to get an exact prevalence and make better prevention strategy, strengthening the publicity and education, improving the ability of monitoring, and wider use of new diagnosis technology are important to reduce the prevalence of BDs in PIs.

Towards scaling Twitter for digital epidemiology of birth defects

Social media has recently been used to identify and study a small cohort of Twitter users whose pregnancies with birth defect outcomes—the leading cause of infant mortality—could be observed via their publicly available tweets. In this study, we exploit social media on a larger scale by developing natural language processing (NLP) methods to automatically detect, among thousands of users, a cohort of mothers reporting that their child has a birth defect. We used 22,999 annotated tweets to train and evaluate supervised machine learning algorithms—feature-engineered and deep learning-based classifiers—that automatically distinguish tweets referring to the user’s pregnancy outcome from tweets that merely mention birth defects. Because 90% of the tweets merely mention birth defects, we experimented with under-sampling and over-sampling approaches to address this class imbalance. An SVM classifier achieved the best performance for the two positive classes: an F1-score of 0.65 for the “defect” class and 0.51 for the “possible defect” class. We deployed the classifier on 20,457 unlabeled tweets that mention birth defects, which helped identify 542 additional users for potential inclusion in our cohort. Contributions of this study include (1) NLP methods for automatically detecting tweets by users reporting their birth defect outcomes, (2) findings that an SVM classifier can outperform a deep neural network-based classifier for highly imbalanced social media data, (3) evidence that automatic classification can be used to identify additional users for potential inclusion in our cohort, and (4) a publicly available corpus for training and evaluating supervised machine learning algorithms.

Epidemiology of birth defects based on surveillance data from 2011\u20132015 in Guangxi, China: comparison across five major ethnic groups

BackgroundThe causes of birth defects (BDs) are complex and include genetic and environmental factors and/or their interactions. More research is needed to describe the epidemiology of BDs within specific regions of China. This study focused on differences in the prevalence of BDs based on ethnicity in a large city in Guangxi Province, China.MethodsSurveillance data of infants born in 114 registered hospitals in Liuzhou between 2011 and 2015 were analyzed to determine the epidemiology of BDs across five major ethnic groups. We calculated the prevalence of BDs and relative risk of BDs by ethnicity.ResultsThere were 260,722 perinatal infants of which 6581 had BDs, with the average prevalence of 25.24 per 1000 perinatal infants (PIs). Prevalence data showed an obvious uptrend over the past 5 years. Han had the highest prevalence of total BDs (28.98‰), followed by Zhuang (25.19‰), Yao (18.50‰), Miao (15.78‰) and Dong (14.24‰). Relative to the Han; Zhuang, Miao, Yao, and Dong had a lower risk of musculoskeletal and urogenital malformations; Miao and Yao had a lower risk of cardiovascular malformation; and Dong had a lower risk of cardiovascular and craniofacial malformation. Several maternal risk factors were found to be associated with BDs (e.g., maternal and gestational age, number of antenatal care visits).ConclusionThis study provided a comprehensive description of ethnic differences in the risk of BDs in Liuzhou City, China. Observed ethnic differences in the risk of BDs may be related to genetic susceptibilities, environment, cultural customs, or to potential combinations of these factors.

Epidemiology of congenital anomalies in the Kurram Tribal Agency, northwest Pakistan

Background: We know of no study reporting hereditary and congenital anomalies (CA) prevalent among northwestern populations in the Federally Administered Tribal Areas (FATA) of Pakistan, a region of war and geopolitical unrest. Objectives: To determine and report the epidemiology of CA in the Kurram Tribal Agency in northwest Pakistan. Methods: A cross-sectional clinical and genetic epidemiological study was conducted in relatively safe pockets of the Kurram Agency of FATA and individuals or families with CA were randomly recruited through door-todoor surveys and visiting public places like the Jirgah and hospitals. Results: This study ascertained 246 independent families or individuals with CA. They were grouped into 9 major and 49 minor phenotypic categories. Among the major categories, neurological disorders were the most frequent (n = 83; proportion = 0.337; CI = 0.278, 0.397), followed by musculoskeletal defects (n = 56), limb anomalies (n = 52), sensorineural/ear defects (n = 18), ectodermal anomalies (n = 11), congenital heart defects (n = 10), and eye/visual impairments (n = 6). Sporadic occurrence of anomalies was more frequent than familial occurrence (169 vs. 77), and isolated presentations were more common than syndromic appearance (170 vs. 76). The distribution of various ascertainment types (e.g. sex-wise, familial/sporadic, isolated/syndromic presentations), with demographic variables such as age, origin, ethnicity, education, family type, and parental consanguinity were mostly not significant. Conclusions: Neurological disorders were the most frequent type of congenital anomalies in the Kurram Federal Tribal Agency of Pakistan. Keywords: Congenital anomalies, descriptive epidemiology, FATA, genetic disorders, Pakistani

Epidemiology of congenital anomalies of the kidney and the urinary tract: a birth registry study

Epidemiology of congenital anomalies of the kidney and the urinary tract: a birth registry study

Epidemiology of Congenital Anomalies among the Children born in Different Hospitals under Sylhet Division in Bangladesh- a Retrospective Study

Congenital anomalies play a significant role in perinatal and neonatal mortality. Frequency of these congenital anomalies varies in different populations. Epidemiology is the study of frequency, distribution and determinants of disease in populations. The mission of epidemiology is to contribute to the understanding of etiology and prevention of disease and to improve the health of public through excellence in research. So, this study was conducted to find out proportion, types and immediate outcome of congenital anomalies. In this retrospective and cross-sectional study all patients admitted with congenital anomalies in different hospitals of Sylhet division in Bangladesh from October 2012 to January 2013 (04 months) were included. At first, the patients were examined for major and minor congenital anomalies and recorded properly. Diagnosis of congenital anomalies was based on ultrasonography and clinical evaluation of the fetus/newborn by experienced neonatologist. Major and minor congenital anomalies were categorized depending on their life threatening effects. Various data which were obtained was analyzed by using SPSS 13. Rates and proportions were calculated with 95% confidence interval. The proportions were compared using students T-test. Level of significance was set at P&lt;0.05.The most frequently occurring anomalies involved the central nervous system (28.33%) of which myelomeningocele was the commonest CNS defect (9.09%). According to data, females were more susceptible to myelomeningocele than the male patients. The second frequently occurring congenital anomaly was associated with cardiovascular system (15%). Patients with urogenital anomalies (6.67%) were male, except for one who had ambiguous genitalia. Congenital anomaly associated with gastrointestinal -, respiratory -, musculoskeletal -, chromosomal - and dysmorphism– were noted as 11.67%, 5%, 6.67%, 5% and 3.33%, respectively. About 11% congenital anomalies were found to be linked to other body part system. After analysis of mothers’ lifestyle, it was likely to conclude that more stress and efforts should be given on the role of peri-conceptional vitamin supplementation to the pregnant mother. Folic acid was found to be the primary agent for prevention of congenital defects.Dhaka Univ. J. Pharm. Sci. 14(2): 225-230, 2015 (December)

Epidemiology of Birth Defects Based on a Birth Defect Surveillance System from 2005 to 2014 in Hunan Province, China.

ObjectiveTo describe the epidemiology of birth defects (BDs) in perinatal infants in Hunan Province, China, between 2005 and 2014.MethodsThe BD surveillance data of perinatal infants (for stillbirth, dead fetus or live birth between 28 weeks of gestation and 7 days after birth) were collected from 52 registered hospitals of Hunan between 2005 and 2014. The prevalence rates of BDs with 95% confidence interval (CI) and crude odds ratio (ORs) were calculated to examine the associations of infant gender, maternal age, and region (urban vs rural) with BDs.ResultsFrom 2005 to 2014, there were a total of 925413 perinatal infants of which 17753 had BDs, with the average prevalence of 191.84 per 10000 PIs (perinatal infants), showing a significant uptrend. The risks of BDs are higher in urban areas versus rural areas (OR = 1.20), in male infants versus female infants (OR = 1.19), and in mothers above age 35 versus those below age 35 (OR = 1.24). The main five types of BDs are Congenital heart defects (CHD), Other malformation of external ear (OMEE), Polydactyly, Congenital malformation of kidney (CMK), and Congenital talipes equinovarus (CTE). From 2005 to 2014, the prevalence rates (per 10000 PIs) of CHD and CMK increased significantly from 22.56 to 74 (OR = 3.29, 95%CI: 2.65–4.11) and from 7.61 to 14.62 (OR = 1.92, 95%CI:1.30–2.84), respectively; the prevalence rates of congenital hydrocephalus and neural tube defects (NTDs) decreased significantly from 11.8 to 5.29 (OR = 0.45, 95%CI: 0.31–0.65) and from 7.87 to 1.74 (OR = 0.22, 95%CI: 0.13–0.38), respectively.ConclusionsThe prevalence rates of specific BDs in perinatal infants in Hunan have changed in the last decade. Urban pregnant women, male perinatal infants, and mothers above age 35 present different prevalence rates of BDs. Wider use of new diagnosis technology, improving the ability of monitoring, strengthening the publicity and education are important to reduce the prevalence of BDs.

Descriptive epidemiology of birth defects thought to arise by new mutation.

The current study is the first to examine the association of a broad range of sociodemographic factors with conditions thought to arise most of the time by de novo mutation. Data were taken from 1999 to 2009 from the Texas Birth Defects Registry (TBDR), a statewide active surveillance program. We used Poisson regression to generate crude and adjusted measures of association; the latter included models with all variables and with a parsimonious subset of variables. There were 1694 cases with any of the phenotypes in the panel, 1100 cases in a subpanel with ≥90% of cases thought to arise de novo, 523 with chromosomal deletion disorders, and 243 with imprinting disorders. In the most parsimonious models, there was an increasing time trend in all groups except imprinting (p ≤ 0.01). Plurality (twins, triplets, etc.) was associated with greater risk of all groups except chromosomal deletions (p ≤ 0.01). Parental age showed strong trends with all groups; paternal age was most important for the total and imprinting groups (p ≤ 0.0001), and maternal age for the others (p ≤ 0.04). De novo mutation phenotypes were more prevalent among offspring of fathers who are non-Hispanic White compared with some other race/ethnic groups. This study suggests that birth defects arising by new mutation may be more prevalent among offspring of older parents and in plural births. The increasing time pattern and race/ethnic pattern may be related to greater use of or access to genetic tests. This approach to mutation epidemiology seems feasible for birth defects registries to consider.

The National Birth Defects Prevention Study: A review of the methods.

The National Birth Defects Prevention Study (NBDPS) is a large population-based multicenter case-control study of major birth defects in the United States. Data collection took place from 1998 through 2013 on pregnancies ending between October 1997 and December 2011. Cases could be live born, stillborn, or induced terminations, and were identified from birth defects surveillance programs in Arkansas, California, Georgia, Iowa, Massachusetts, New Jersey, New York, North Carolina, Texas, and Utah. Controls were live born infants without major birth defects identified from the same geographical regions and time periods as cases by means of either vital records or birth hospitals. Computer-assisted telephone interviews were completed with women between 6 weeks and 24 months after the estimated date of delivery. After completion of interviews, families received buccal cell collection kits for the mother, father, and infant (if living). There were 47,832 eligible cases and 18,272 eligible controls. Among these, 32,187 (67%) and 11,814 (65%), respectively, provided interview information about their pregnancies. Buccal cell collection kits with a cytobrush for at least one family member were returned by 19,065 case and 6,211 control families (65% and 59% of those who were sent a kit). More than 500 projects have been proposed by the collaborators and over 200 manuscripts published using data from the NBDPS through December 2014. The NBDPS has made substantial contributions to the field of birth defects epidemiology through its rigorous design, including case classification, detailed questionnaire and specimen collection, large study population, and collaborative activities across Centers.

Congenital Malformations and Consequential Epidemiology.

A call for a shift in the discipline of epidemiology, away from those aimed at identifying risk factors and toward those aimed at more directly improving health - so called consequential epidemiology. This call for epidemiologists to engage in solving the biggest public health problems has been heralded for decades by Cates and more recently by Galea [Am J Epidemiol 2013; 178; 1185-94]. In consideration of the consequential epidemiology perspective, the impacts of epidemiologic research of birth defects over the recent decades are evaluated and directions for the field are proposed. While many causal factors have been identified, the causes of the majority of birth defects remain unknown. Folic acid intake notwithstanding, primary prevention of birth defects is elusive. Meanwhile, research that identifies what improves the lives of individuals born with a birth defect and how to ensure those factors are available to all affected would have great impact. In summary, a consequentialist approach to birth defects epidemiology requires a shift in research agendas and teams, but the opportunities are wide open.