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BACKGROUND: Down syndrome is the most common chromosomal disorder at birth and is often accompanied by structural birth defects. Current data on major structural defects in this population are limited. METHODS: States and territorial population-based surveillance programs submitted data on identified cases of Down syndrome and identified structural birth defects during 2013–2017. We estimated prevalence by program type and maternal and infant characteristics. Among programs with active case ascertainment, we estimated the prevalence of birth defects by organ system and for specific defects by maternal age (

Objectives We investigated differences in prevalence of major birth defects by maternal nativity within racial/ethnic groups for 27 major birth defects. Methods Data from 11 population-based birth defects surveillance systems in the United States including almost 13 million live births (approximately a third of U.S. births) during 1999-2007 were pooled. We calculated prevalence estimates for each birth defect for five racial/ethnic groups. Using Poisson regression, crude and adjusted prevalence ratios (aPRs) were also calculated using births to US-born mothers as the referent group in each racial/ethnic group. Results Approximately 20% of case mothers and 26% of all mothers were foreign-born. Elevated aPRs for infants with foreign-born mothers were found for spina bifida and trisomy 13, 18, and 21, while lower prevalence patterns were found for pyloric stenosis, gastroschisis, and hypospadias. Conclusions This study demonstrates that birth defects prevalence varies by nativity within race/ethnic groups, with elevated prevalence ratios for some specific conditions and lower prevalence for others. More detailed analyses focusing on a broader range of maternal behaviors and characteristics are required to fully understand the implications of our findings.

Background Gastrointestinal defects are a phenotypically and etiologically diverse group of malformations. Despite their combined prevalence and clinical impact, little is known about the epidemiology of these birth defects. Therefore, the objective of the 2017 National Birth Defects Prevention Network (NBDPN) data brief was to better describe the occurrence of gastrointestinal defects. Methods As part of the 2017 NBDPN annual report, 28 state programs provided additional data on gastrointestinal defects for the period 2010-2014. Counts and prevalence estimates (per 10,000 live births) were calculated overall and by demographic characteristics for (1) biliary atresia; (2) esophageal atresia/tracheoesophageal fistula; (3) rectal and large intestinal atresia/stenosis; and (4) small intestinal atresia/stenosis. Additionally, we explored the frequency of these malformations co-occurring with other structural birth defects. Results Pooling data from all participating registries, the prevalence estimates were: 0.7 per 10,000 live births for biliary atresia (713 cases); 2.3 per 10,000 live births for esophageal atresia/tracheoesophageal fistula (2,472 cases); 4.2 per 10,000 live births for rectal and large intestinal atresia/stenosis (4,334 cases); and 3.4 per 10,000 live births for small intestinal atresia/stenosis (3,388 cases). Findings related to co-occurring birth defects were especially notable for esophageal atresia/tracheoesophageal fistula, rectal and large intestinal atresia/stenosis, and small intestinal atresia/stenosis, where the median percentage of non-isolated cases was 53.9%, 45.5%, and 50.6%, respectively. Conclusions These population-based prevalence estimates confirm some previous studies, and provide a foundation for future epidemiologic studies of gastrointestinal defects. Exploring the genetic and environmental determinants of these malformations may yield new clues into their etiologies.

Background Congenital microcephaly has been linked to maternal Zika virus infection. However, ascertaining infants diagnosed with microcephaly can be challenging. Methods Thirty birth defects surveillance programs provided data on infants diagnosed with microcephaly born 2009 to 2013. The pooled prevalence of microcephaly per 10,000 live births was estimated overall and by maternal/infant characteristics. Variation in prevalence was examined across case finding methods. Nine programs provided data on head circumference and conditions potentially contributing to microcephaly. Results The pooled prevalence of microcephaly was 8.7 per 10,000 live births. Median prevalence (per 10,000 live births) was similar among programs using active (6.7) and passive (6.6) methods; the interdecile range of prevalence estimates was wider among programs using passive methods for all race/ethnicity categories except Hispanic. Prevalence (per 10,000 live births) was lowest among non-Hispanic Whites (6.5) and highest among non-Hispanic Blacks and Hispanics (11.2 and 11.9, respectively); estimates followed a U-shaped distribution by maternal age with the highest prevalence among mothers

Major structural birth defects collectively affect 3 to 5% of births in the United States and contribute substantially to mortality and morbidity (CDC, 2008; TDSHS, 2015). Since 2000, the National Birth Defects Prevention Network (NBDPN) has annually published state-specific data for selected major birth defects affecting a range of organ systems, including central nervous, eye, ear, cardiovascular, orofacial, gastrointestinal, genitourinary, and musculoskeletal, as well as chromosomal and other conditions, such as amniotic bands. While the NBPDN list of birth defects had remained relatively unchanged for two decades, it was recently revised and released with the 2014 NBDPN Annual Report (Mai et al., 2014). Several factors necessitated an in-depth examination of the list of conditions: (1) development of national data quality standards for birth defects surveillance in the United States; (2) transition of the diagnostic coding system from the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM) to ICD-10-CM; and (3) inclusion of newborn screening for critical congenital heart defects (CCHD), with 12 primary and secondary CCHD targets, on the national Recommended Uniform Screening Panel. The revision process included a review of each condition in relation to its public health importance, state of current knowledge, and clinical factors, such as accuracy of diagnosis within a child’s first year of life. Table 1 presents the revised list of birth defects and their diagnostic codes [ICD-9-CM and Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases (CDC/BPA)]. TABLE 1 National Birth Defects Prevention Network (NBDPN) List of Reported Birth Defects by Disease Classification Codes

© 2014 The Authors Birth Defects Research Part A: Clinical and Molecular Teratology Published by Wiley Periodicals, Inc.

The annual National Birth Defects Prevention Network (NBDPN) Congenital Malformations Surveillance Report includes state-level data on major birth defects (i.e., conditions present at birth that cause adverse structural changes in one or more parts of the body) and a directory of population-based birth defects surveillance systems in the United States. Beginning in 2012, these annually updated data and directory information are available in an electronic format accompanied by a data brief. This year’s report includes data from 41 population-based birth defects surveillance programs and a data brief highlighting the more common trisomy conditions (i.e., disorders characterized by an additional chromosome): trisomy 21 (commonly referred to as Down syndrome), trisomy 18, and trisomy 13. State-Specific Data Collection and Presentation for Selected Birth Defects Data collection The NBDPN Data Committee, in collaboration with the Centers for Disease Control and Prevention (CDC), invited population-based birth defects surveillance programs in the United States to submit data on major birth defects affecting central nervous, eye, ear, cardiovascular, orofacial, gastrointestinal, genitourinary, and musculoskeletal systems, as well as trisomies, amniotic bands, and fetal alcohol syndrome. Table 1 lists these 47 conditions and their diagnostic codes (International Classification of Diseases, 9th Revision, Clinical Modification [ICD-9-CM]; and Centers for Disease Control and Prevention/British Pediatric Association Classification of Diseases [CDC/BPA]). Table 1 ICD-9-CM and CDC/BPA Codes for 47 Birth Defects Reported in the NBDPN Annual Report Participating state birth defects programs provided counts of all cases of the birth defects listed in Table 1 as well as counts of live births and male live births in their catchment areas for births occurring from January 1, 2006 through December 31, 2010. The cases for all defects were reported by maternal census race/ethnic categories: White non-Hispanic, Black/African-American non-Hispanic, Hispanic, Asian/Pacific Islander non-Hispanic, American Indian/Alaska Native non-Hispanic. Additionally, trisomy cases were provided by six categories of maternal age at delivery: less than 20 years, 20 to 24 years, 25 to 29 years, 30 to 34 years, 35 to 39 years, and 40+ years.