Birth Defects Surveillance Data Research Articles

Birth defects surveillance: Working together to advance science

AbstractSince 2000, the National Birth Defects Prevention Network (NBDPN), in collaboration with the US National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention, has provided a special issue of Birth Defects Research focused on advancing the field of birth defects surveillance, epidemiology, and public health practice. The annual NBDPN special issue consists of contributed manuscripts using birth defects surveillance data for epidemiologic research or for improving birth defects surveillance methods. This year, our special issue includes updated national prevalence estimates for selected major birth defects, seven original research papers, and an invited editorial. Several of the accepted manuscripts highlight collaborative efforts between birth defects surveillance systems across the country: through the NBDPN, the National Birth Defects Prevention Study, and the Muscular Dystrophy Surveillance, Tracking, and Research Network. These studies offer examples of the power of pooling data and leveraging resources to conduct high‐quality birth defects research.

Multijurisdictional Analyses of Birth Defects: Considering the Common Data Model Approach.

Multijurisdictional Analyses of Birth Defects: Considering the Common Data Model Approach.

Chromosomal abnormalities: subgroup analysis by maternal age and perinatal features in zhejiang province of China, 2011\u20132015

BackgroundRecently, the prevalence of chromosomal abnormalities (CA) increased as the increasing proportion of mothers with advanced age. We aimed to explore the prevalence of CA in relation to maternal age and perinatal features.MethodsA retrospective study was performed based on provincial birth defects surveillance data. The relative risk (RR) and 95% confidence interval (CI) were used to calculate maternal age-specific rates of CA. Socio-demographic characteristics of mothers and perinatal features were listed.ResultsThe total prevalence of CA was 6.38 per 10,000 births, which increased per 10,000 births linearly from 4.02 in 2011 to 9.13 in 2015 (x2line-trend =52.69, p < 0.001). During this period, the prevalence for CA per 10,000 births among women over 35 years old increased from 15.34 in 2011 to 33.82 in 2015 (x2line-trend =115121.6, p < 0.001). The RR for overall CA, trisomy 21(T21), trisomy 18(T18) and others in mothers 35 years or older were 6.64 (95% CI 5.55 ~ 7.93), 6.83 (95% CI 5.63 ~ 8.30), 4.06 (95% CI 2.09 ~ 7.90) and 7.54 (95% CI 4.02 ~ 14.11) respectively in comparison to mothers aged 25–29 years old. The stillbirths rate for total CA was 76.45%. T21 and T18 were strongly associated with multiple anomalies, especially congenital heart abnormalities.ConclusionsThe prevalence of CA increased as maternal age increased. Cases with CA were associated with other congenital defects and high mortality risk.

Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence=2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations† (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

Retrospective Assessment of Cost Savings From Prevention: Folic Acid Fortification and Spina Bifida in the U.S.

Although fortification of food with folic acid has been calculated to be cost saving in the U.S., updated estimates are needed. This analysis calculates new estimates from the societal perspective of net cost savings per year associated with mandatory folic acid fortification of enriched cereal grain products in the U.S. that was implemented during 1997-1998. Estimates of annual numbers of live-born spina bifida cases in 1995-1996 relative to 1999-2011 based on birth defects surveillance data were combined during 2015 with published estimates of the present value of lifetime direct costs updated in 2014 U.S. dollars for a live-born infant with spina bifida to estimate avoided direct costs and net cost savings. The fortification mandate is estimated to have reduced the annual number of U.S. live-born spina bifida cases by 767, with a lower-bound estimate of 614. The present value of mean direct lifetime cost per infant with spina bifida is estimated to be $791,900, or $577,000 excluding caregiving costs. Using a best estimate of numbers of avoided live-born spina bifida cases, fortification is estimated to reduce the present value of total direct costs for each year's birth cohort by $603 million more than the cost of fortification. A lower-bound estimate of cost savings using conservative assumptions, including the upper-bound estimate of fortification cost, is $299 million. The estimates of cost savings are larger than previously reported, even using conservative assumptions. The analysis can also inform assessments of folic acid fortification in other countries.

Population‐based birth defects surveillance data: The cornerstone of epidemiologic and health services research and disease prevention

Population‐based birth defects surveillance data: The cornerstone of epidemiologic and health services research and disease prevention

Development and implementation of the first national data quality standards for population-based birth defects surveillance programs in the United States

BackgroundPopulation-based birth defects surveillance is a core public health activity in the United States (U.S.); however, the lack of national data quality standards has limited the use of birth defects surveillance data across state programs. Development of national standards will facilitate data aggregation and utilization across birth defects surveillance programs in the U.S.MethodsBased on national standards for other U.S. public health surveillance programs, existing National Birth Defects Prevention Network (NBDPN) guidelines for conducting birth defects surveillance, and information from birth defects surveillance programs regarding their current data quality practices, we developed 11 data quality measures that focused on data completeness (n = 5 measures), timeliness (n = 2), and accuracy (n = 4). For each measure, we established tri-level performance criteria (1 = rudimentary, 2 = essential, 3 = optimal). In January 2014, we sent birth defects surveillance programs in each state, District of Columbia, Puerto Rico, Centers for Disease Control and Prevention (CDC), and the U.S. Department of Defense Birth and Infant Health Registry an invitation to complete a self-administered NBDPN Standards Data Quality Assessment Tool. The completed forms were electronically submitted to the CDC for analyses.ResultsOf 47 eligible population-based surveillance programs, 45 submitted a completed assessment tool. Two of the 45 programs did not meet minimum inclusion criteria and were excluded; thus, the final analysis included information from 43 programs. Average scores for four of the five completeness performance measures were above level 2. Conversely, the average scores for both timeliness measures and three of the four accuracy measures were below level 2. Surveillance programs using an active case-finding approach scored higher than programs using passive case-finding approaches for the completeness and accuracy measures, whereas their average scores were lower for timeliness measures.ConclusionsThis initial, nation-wide assessment of data quality across U.S. population-based birth defects surveillance programs highlights areas for improvement. Using this information to identify strengths and weaknesses, the birth defects surveillance community, working through the NBDPN, can enhance and implement a consistent set of standards that can promote uniformity and enable surveillance programs to work towards improving the potential of these programs.Electronic supplementary materialThe online version of this article (doi:10.1186/s12889-015-2223-2) contains supplementary material, which is available to authorized users.

Racial Disparity in Birth Defects: Who Has Higher Risk?

Racial disparity in Birth defects study was conducted in Louisiana DHH, Office of Public Health, and CSHS during months of June to September 2013 as part of a practicum required by Tulane MPH Program. This study evaluating the racial differences among certain birth defects using birth defects surveillance data has never been done in Louisiana. Using the 2006-2008 linked data, the relationship between race/ethnicity and selected major birth defects was analyzed. Findings from this study helped identify the major birth defects common in this population and showed variations in the prevalence of birth defects among certain racial/ethnic groups.

Public Health Science Agenda for Congenital Heart Defects: Report From a Centers for Disease Control and Prevention Experts Meeting

Congenital heart defects (CHDs) are the most common type of birth defect, affecting ≈1% of births per year.[1][1] Although survival has been improving over time, there remain numerous gaps in the understanding of the public health impact of CHDs across the lifespan. Recognizing that there was “a

Twenty‐Five–Year survival of children with birth defects in New York State: A population‐based study

Few studies have been conducted on long-term survival of children with major birth defects because of a lack of longitudinal birth defects surveillance data. The objective of this study was to conduct a 25-year survival analysis among children in New York born with major defects by survival age, birth defect category, and other possible contributing factors. A cohort was constructed containing children born in 1983 to 2006 with selected major birth defects. Deaths among the study cohort were identified by matching the children to their death certificates. The survival probability was estimated by Kaplan-Meier methods. Cox proportional hazards regression was used to examine the effect of the risk factors on survival. A total of 9112 deaths were identified among 57,002 live births with selected birth defects between 1983 and 2006. The overall 25-year survival probability of the study cohort was 82.51% (95% confidence interval, 82.11-82.89%). The estimated survival probability was comparable to that reported from previous studies regarding individual defects including spina bifida, encephalocele, atrioventricular septal defects, tracheoesophageal fistula and esophageal atresia or stenosis, renal agenesis or dysgenesis, lower limb reduction, diaphragmatic hernia, abdominal wall defects, and Down syndrome. Sex, low birth weight for gestational age, existence of multiple birth defects (nonisolated), and maternal age and nativity were identified as risk factors. Using the statewide, population-based birth defects surveillance data in New York State, the survival experience of the study cohort was examined across all survival time periods by individual birth defect of interest. Several risk factors that affect survival were identified.

A retrospective cohort study of mortality among children with birth defects in New York State, 1983–2006

Birth defects, which occur in about 3% of live births in the United States each year, have remained the leading cause of infant mortality, although the infant mortality rate in the United States has decreased significantly over the past decades. The objective of this study was to conduct a retrospective cohort study with long-term follow-up of the children in New York State Congenital Malformations Registry (CMR) for up to 24 years on their mortality status to evaluate the mortality risk of children with birth defects by age at death, birth defect category and other possible contributing factors. Children born in 1983-2006 with reportable birth defects were included in the study cohort. A sub-cohort was also constructed containing children born in 1983-2006 with selected major birth defects that are relatively severe congenital conditions identified at birth. New York State live births in 1983-2006 were used as the comparison population. The deaths among the study cohort were identified through linking CMR cases to the death certificate files. A Poisson regression model was used to calculate mortality rate ratios (mortality risk) adjusting for selected infant and maternal risk factors. Compared to children without birth defects, the overall mortality risk was 6.7 times higher for children with any of the reportable birth defects and 23.6 times higher for children with selected major birth defects. The mortality risk decreased with increasing age of children. The top 5 most significantly high mortality risks were found among infants in neonatal period with anencephaly (RR = 200.5, 95% CI:180.6-222.5) and renal agenesis/dysgenesis (RR = 69.5, 95% CI:64.2-75.2), and among children aged 1-2 years with Trisomy 18 (RR = 206.4, 95% CI:28.5-331.6), Trisomy 13 (RR = 157.3, 95% CI:83.5-296.4), and hypoplastic left heart (RR = 161.5, 95% CI:20.1-217.2). Low birth weight and gestational age, multiple malformations and high lethality of anomalies involved were the major contributors to the high risk of mortality among children with selected major birth defects compared to those without birth defects. Using the state-wide, population-based birth defects surveillance data to conduct a long-term follow-up of a large cohort of New York children, we were able to examine mortality and survival experience of the affected children during infancy and childhood period by individual birth defects of interest. As expected, children born with birth defects had a higher risk of mortality compared to children without birth defects. The magnitude of the risk varied by children's age, birth and maternal characteristics and the lethality of the specific birth defects involved.

Updated national birth prevalence estimates for selected birth defects in the United States, 2004–2006

The National Birth Defects Prevention Network collects state-specific birth defects surveillance data for annual publication of prevalence estimates and collaborative research projects. In 2006, data for 21 birth defects from 1999 through 2001 were presented as national birth prevalence estimates. The purpose of this report was to update these estimates using data from 2004 through 2006. Population-based data from 11 active case-finding programs, 6 passive case-finding programs with case confirmation, and 7 passive programs without case confirmation were used in this analysis. Pooled birth prevalence estimates for 21 birth defects, stratified by case ascertainment approach, were calculated. National prevalence estimates, adjusted for maternal race/ethnicity and maternal age (trisomy 13, trisomy 18, and Down syndrome only) were determined using data from 14 programs. The impact of pregnancy outcomes on prevalence estimates was also assessed for five specific defects. National birth defects prevalence estimates ranged from 0.72 per 10,000 live births for common truncus to 14.47 per 10,000 live births for Down syndrome. Stratification by type of surveillance system showed that active programs had a higher prevalence of anencephaly, anophthalmia/microphthalmia, cleft lip with or without cleft palate, reduction defect of upper limbs, and trisomy 18. The birth prevalence of anencephaly, trisomy 13, and trisomy 18 also varied substantially with inclusion of elective terminations. Accurate and timely national estimates of the prevalence of birth defects are needed for monitoring trends, assessing prevention efforts, determining service planning, and understanding the burden of disease due to birth defects in the United States.

Population‐based Birth Defects Surveillance data from selected states, 2002‐2006

Birth Defects Research Part A: Clinical and Molecular TeratologyVolume 85, Issue 12 p. 939-1055 Original Article Population-based Birth Defects Surveillance data from selected states, 2002-2006 First published: 08 December 2009 https://doi.org/10.1002/bdra.20638Citations: 18AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume85, Issue12Special Issue: 2009 Congenital Malformation Surveillance Report: A Report from the National Birth Defects Prevention Network Part IIDecember 2009Pages 939-1055 RelatedInformation

Population‐based Birth Defects Surveillance data from selected states, 2001‐2005

Birth Defects Research Part A: Clinical and Molecular TeratologyVolume 82, Issue 12 p. 831-961 Original Article Population-based Birth Defects Surveillance data from selected states, 2001-2005 First published: 18 December 2008 https://doi.org/10.1002/bdra.20549Citations: 6AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinkedInRedditWechat Citing Literature Volume82, Issue12Special Issue: 2008 Congenital Malformations Surveillance Report: A Report from the National Birth Defects Prevention Network (Part II)December 2008Pages 831-961 RelatedInformation

Collection, use, and protection of population‐based birth defects surveillance data in the united states

Birth defects surveillance systems collect population-based birth defects data from multiple sources to track trends in prevalence, identify risk factors, refer affected families to services, and evaluate prevention efforts. Strong state and federal public health and legal mandates are in place to govern the collection and use of these data. Despite the prima facie appeal of "opt-in" and similar strategies to those who view data collection as a threat to privacy, the use of these strategies in lieu of population-based surveillance can severely limit the ability of public health agencies to accurately access the health status of a group within a defined geographical area. With the need for population-based data central to their mission, birth defects programs around the country take their data stewardship role seriously, recognizing both moral and legal obligations to protect the data by employing numerous safeguards. Birth defects surveillance systems are shaped by the needs of the community they are designed to serve, with the goal of preventing birth defects or alleviating the burdens associated with them.

Population‐based Birth Defects Surveillance Data from selected states, 2000–2004

Population‐based Birth Defects Surveillance Data from selected states, 2000–2004

Application of the automated spatial surveillance program to birth defects surveillance data

Although many birth defects surveillance programs incorporate georeferenced records into their databases, practical methods for routine spatial surveillance are lacking. We present a macroprogram written for the software package R designed for routine exploratory spatial analysis of birth defects data, the Automated Spatial Surveillance Program (ASSP), and present an application of this program using spina bifida prevalence data for metropolitan Atlanta. Birth defects surveillance data were collected by the Metropolitan Atlanta Congenital Defects Program. We generated ASSP maps for two groups of years that correspond roughly to the periods before (1994-1998) and after (1999-2002) folic acid fortification of flour. ASSP maps display census tract-specific spina bifida prevalence, smoothed prevalence contours, and locations of statistically elevated prevalence. We used these maps to identify areas of elevated prevalence for spina bifida. We identified a large area of potential concern in the years following fortification of grains and cereals with folic acid. This area overlapped census tracts containing large numbers of Hispanic residents. The potential utility of ASSP for spatial disease monitoring was demonstrated by the identification of areas of high prevalence of spina bifida and may warrant further study and monitoring. We intend to further develop ASSP so that it becomes practical for routine spatial monitoring of birth defects.

Birth defects surveillance data from selected states, 1999–2003

Birth defects surveillance data from selected states, 1999–2003

Birth defects surveillance data from selected states, 1998-2002

Birth defects surveillance data from selected states, 1998-2002

Birth defects surveillance data from selected states, 1997‐2001

Birth defects surveillance data from selected states, 1997‐2001