Last data update: Jun 03, 2024. (Total: 46935 publications since 2009)
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National population-based estimates for major birth defects, 2016-2020
Stallings EB , Isenburg JL , Rutkowski RE , Kirby RS , Nembhard WN , Sandidge T , Villavicencio S , Nguyen HH , McMahon DM , Nestoridi E , Pabst LJ . Birth Defects Res 2024 116 (1) e2301 BACKGROUND: We provide updated crude and adjusted prevalence estimates of major birth defects in the United States for the period 2016-2020. METHODS: Data were collected from 13 US population-based surveillance programs that used active or a combination of active and passive case ascertainment methods to collect all birth outcomes. These data were used to calculate pooled prevalence estimates and national prevalence estimates adjusted for maternal race/ethnicity for all conditions, and maternal age for trisomies and gastroschisis. Prevalence was compared to previously published national estimates from 1999 to 2014. RESULTS: Adjusted national prevalence estimates per 10,000 live births ranged from 0.63 for common truncus to 18.65 for clubfoot. Temporal changes were observed for several birth defects, including increases in the prevalence of atrioventricular septal defect, tetralogy of Fallot, omphalocele, trisomy 18, and trisomy 21 (Down syndrome) and decreases in the prevalence of anencephaly, common truncus, transposition of the great arteries, and cleft lip with and without cleft palate. CONCLUSION: This study provides updated national estimates of selected major birth defects in the United States. These data can be used for continued temporal monitoring of birth defects prevalence. Increases and decreases in prevalence since 1999 observed in this study warrant further investigation. |
Changes in spina bifida lesion level after folic acid fortification in the US
Mai CT , Evans J , Alverson CJ , Yue X , Flood T , Arnold K , Nestoridi E , Denson L , Adisa O , Moore CA , Nance A , Zielke K , Rice S , Shan X , Dean JH , Ethen M , Hansen B , Isenburg J , Kirby RS . Obstet Gynecol Surv 2023 78 (4) 189-191 following which a substantial decline in neural tube defects at birth occurred. Studies also have suggested that lesion levels in cases of spina bifida are directly affected by folic acid fortification. Locations of such lesions contribute to outcome and prognosis of the condition. When compared with sacral and lower lumbar lesions, the greatest risks of disability and mortality are associated with cervical, thoracic, and high lumbar lesions. Individuals with thoracic or high lumbar lesions require a wheelchair and orthosis in adulthood for ambulation 70% to 99% of the time. As lesion levels therefore determine function and overall quality of life, assessment of whether folic acid fortification significantly impacts lesion levels is important. This study aimed to examine patterns of lesion levels in spina bifida following mandatory folic acid fortification in the United States. | | A call was issued by the National Birth Defects Prevention Network for State Birth Defects Programs' spina bifida lesion data before and after fortification mandate. To be eligible, programs needed to provide verbatim medical record text descriptions of spina bifida diagnoses. The 6 participating programs were from the states of Arizona, California (covering 8 counties), Oklahoma, South Carolina, Utah, and metropolitan Atlanta (Georgia). Birth years examined included the prefortification years of 1992–1996 and the postfortification period of 1999–2016. Central processing and analysis occurred as each program provided case-level data (deidentified) based on the exclusion/inclusion criteria to the Centers for Disease Control and Prevention. Medical and record text description of the spina bifida diagnosis and codes were the basis of case information, using the International Classification of Diseases, Ninth Edition, Clinical Modification or the Centers for Disease Control and Prevention and Prevention/British Pediatric Association coding system. Types of spina bifida included in the study were spinal rachischisis, myelomeningocele/meningomyelocele, meningocele, and spina bifida not otherwise specified. Cases excluded were cranial lesions, lipomyelomeningocele/lipomeningomyelocele, dysraphism related to split cord malformations, and spina bifida occulta. | | Lesion-level information was provided based on the highest lesion using nonradiographic clinical assessment. Classification of severe upper-level lesions included cervical or thoracic lesion-level cases, whereas lower-level lesions included cases with lumbar or sacral. The study defined open lesion as leaking spinal fluid or membrane covered only, whereas closed lesions were defined as having intact-skin covering and lacking fluid leakage. Spina bifida cases were considered isolated when no other anomalies related to the primary cause of abnormal neural tube closure were present (nor were secondary to the neurologic complications caused by it). Examining associations between fortification period and the outcomes (lesion level and spina bifida) occurred using the generalized estimating approach to logistic (case severity analyses) and log-linear (PR analyses) regression, which accounted for clustering of cases by state. | | From a total of 7,816,062 live births, 2593 cases of spina bifida met the case inclusion criteria. Overall, 573 cases were included in the prefortification period (birth prevalence of 4.07 per 10,000 live births), and 2020 cases were included in the postfortification period (birth prevalence of 3.15 per 10,000 live births). Overall, 80.2% of cases resulted in live births, and most cases of spina bifida involved lower-level lesions (81.3%). Most lesions were lumbar, and the proportions prefortification and postfortification were 61.4% and 72.0%, respectively, with a higher proportion of lumbar lesions seen in the postfortification period. The odds of upper-level to lower-level lesions decreased by 70% after fortification. The spina bifida live birth prevalence decreased significantly and remained consistently low throughout the early, mid, and recent postfortification periods. The study found a 72% decrease overall in prevalence of severe, upper-level lesions following mandatory folic acid fortification in the United States. | | The limitations of the study include the shortcomings of relying on diagnostic codes, the difficulty of coding lesion level using the International Classification of Diseases, Ninth Edition, Clinical Modification coding scheme, the lack of recorded functional outcome for children in medical records (indirect indicators of severity), the lack of preconception and prenatal folic acid data, and the possible variation of case ascertainment within programs contributing studies. A major study strength is its potential to address additional important questions regarding epidemiology and spina bifida. The classification of spinal defects is complex, and this study adds to the limited distribution data that exist for prefortification and postfortification subtypes. | | The study concluded that the overall prevalence of severe upper-level lesions in spina bifida cases experienced a steep reduction following mandatory folic acid fortification institution within the United States, whereas no change in the prevalence of less severe lower-level lesions took place. Additional examinations are warranted to better understand the magnitude and mechanism of spina bifida severity in relation to folic acid intake. |
Changes in spina bifida lesion level after folic acid fortification in the United States
Mai CT , Evans J , Alverson CJ , Yue X , Flood T , Arnold K , Nestoridi E , Denson L , Adisa O , Moore CA , Nance A , Zielke K , Rice S , Shan X , Dean JH , Ethen M , Hansen B , Isenburg J , Kirby RS . J Pediatr 2022 249 59-66 e1 OBJECTIVE: To assess whether the severity of cases of spina bifida changed after mandatory folic acid fortification in the United States. STUDY DESIGN: Six active population-based birth defects programs provided data on cases of spina bifida for 1992-1996 (pre-fortification) and 1999-2016 (post-fortification); programs contributed varying years of data. Case information included both medical record verbatim text description of the spina bifida diagnosis and spina bifida codes (International Classification of Diseases, Clinical Modification, or a modified birth defects surveillance coding system). Comparing pre- with post-fortification periods, adjusted odds ratios (aOR) for case severity [upper-level (cervical, thoracic) to lower-level (lumbar, sacral) lesion cases] and prevalence ratios (PR) were estimated. RESULTS: A total of 2,593 cases of spina bifida (7,816,062 live births) met inclusion criteria, with 573 and 2,020 cases from the pre- and post-fortification periods respectively. Case severity decreased 70% (aOR: 0.30; 95% confidence interval [CI] 0.26, 0.35) between the fortification periods. The decrease was most pronounced for non-Hispanic white mothers. Overall spina bifida prevalence declined 23% (PR=0.77, 95% CI=0.71, 0.85), with similar reduction seen across early, mid, and recent post-fortification periods. A statistically significant decrease in upper-level lesions occurred in the post-fortification compared with pre-fortification periods (PR=0.28, 95% CI=0.22, 0.34), while prevalence of lower-level lesions remained relatively similar (PR: 0.94, 95% CI: 0.84, 1.05). CONCLUSIONS: Severity of cases of spina bifida decreased after mandatory folic acid fortification in the United States. Further examination is warranted to understand better the potential effect of folic acid on spina bifida severity. |
Prevalence of critical congenital heart defects and select co-occurring congenital anomalies, 2014-2018: A U.S. population-based study
Stallings EB , Isenburg JL , Aggarwal D , Lupo PJ , Oster ME , Shephard H , Liberman RF , Kirby RS , Nestoridi E , Hansen B , Shan X , Navarro Sanchez ML , Boyce A , Heinke D . Birth Defects Res 2022 114 (2) 45-56 BACKGROUND: Critical congenital heart defects (CCHDs) are one of the most common types of birth defects and can lead to significant morbidity and mortality along with surgical or catheter interventions within the first year of life. This report updates previously published estimates of CCHD prevalence with the latest population-based surveillance data from 19 birth defect surveillance programs. METHODS: The U.S. population-based surveillance programs submitted data on identified cases of 12 CCHDs and co-occurring cardiovascular and chromosomal birth defects from 2014 to 2018. We estimated prevalence by program type and maternal and infant characteristics. Among nine programs with active case ascertainment that collect more than live births, we estimated the percentage of co-occurring cardiovascular and chromosomal birth defects for the 12 CCHDs. RESULTS: We identified 18,587 cases of CCHD among all participating programs. Overall CCHD prevalence was 19.6 per 10,000 live births among all 19 programs and 20.2 per 10,000 live births among active programs. Among maternal racial/ethnic groups, infants/fetuses born to American Indian/Alaska Native mothers showed the highest overall prevalence for all CCHDs (28.3 per 10,000) along with eight of the 12 individual CCHDs. Among 7,726 infants/fetuses with CCHD from active case ascertainment programs, 15.8% had at least one co-occurring chromosomal birth defect. CONCLUSION: Our study provides prevalence estimates for CCHDs by maternal and infant characteristics along with co-occurrence with cardiovascular and chromosomal birth defects among infants/fetuses with CCHD using one of the largest and most recent cohorts since the implementation of widespread CCHD screening. These data can provide a basis for future research to better understand risk factors for these defects. |
Co-occurrence of congenital anomalies by maternal race/ethnicity among infants and fetuses with Down syndrome, 2013-2017: A U.S. population-based analysis.
Stallings EB , Isenburg JL , Heinke D , Sherman SL , Kirby RS , Lupo PJ . Birth Defects Res 2021 114 (2) 57-61 BACKGROUND: Individuals with Down syndrome (DS) have a higher prevalence of additional congenital anomalies, especially cardiovascular defects, compared to the general population. Several reports have indicated that the prevalence of DS among live births varies by race and ethnicity within the United States. We aim to examine variations in co-occurring congenital anomalies by maternal race/ethnicity among infants and fetuses diagnosed with DS born during 2013-2017. METHODS: State birth defect surveillance systems (N = 12) submitted data on infants and fetuses diagnosed with DS born during 2013-2017. We calculated the prevalence of co-occurring major and minor congenital anomalies, by organ system, and four selected cardiovascular birth defects, all stratified by maternal race/ethnicity. RESULTS: Among 5,836 cases of DS, 79.7% had one or more co-occurring congenital anomalies. There was a higher percentage of co-occurring congenital anomalies among infants and fetuses born to Hispanic mothers. The lowest percentage of co-occurring congenital anomalies, including three out of the four individual cardiovascular conditions examined, was among infants/fetuses born to non-Hispanic American Indian/Alaska Native mothers. CONCLUSIONS: We describe differences in DS co-occurrence with additional congenital anomalies among maternal racial/ethnic groups. These data may help focus future research on differences among racial/ethnic groups in the diagnosis and reporting of co-occurring congenital anomalies in infants/fetuses diagnosed with DS. |
Prevalence of structural birth defects among infants with Down syndrome, 2013-2017: A US population-based study
Heinke D , Isenburg JL , Stallings EB , Short TD , Le M , Fisher S , Shan X , Kirby RS , Nguyen HH , Nestoridi E , Nembhard WN , Romitti PA , Salemi JL , Lupo PJ . Birth Defects Res 2020 113 (2) 189-202 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 (<35, ≥35) and infant sex. RESULTS: We identified 13,376 cases of Down syndrome. Prevalence among all programs was 12.7 per 10,000 live births. Among these children, 75% had at least one reported co-occurring birth defect diagnosis code. Among 6,210 cases identified by active programs, 66% had a cardiovascular defect with septal defects being the most common: atrial (32.5%), ventricular (20.6%), and atrioventricular (17.4%). Defect prevalence differed by infant sex more frequently than by maternal age. For example, atrioventricular septal defects were more common in female children (20.1% vs. 15.1%) while limb deficiencies were more prevalent in male children (0.4% vs. 0.1%). CONCLUSIONS: Our study provides updated prevalence estimates for structural defects, including rare defects, among children with Down syndrome using one of the largest and most recent cohorts to date. These data may aid clinical care and surveillance. |
Infant mortality attributable to birth defects - United States, 2003-2017
Almli LM , Ely DM , Ailes EC , Abouk R , Grosse SD , Isenburg JL , Waldron DB , Reefhuis J . MMWR Morb Mortal Wkly Rep 2020 69 (2) 25-29 Birth defects are a leading cause of infant mortality in the United States, accounting for 20.6% of infant deaths in 2017 (1). Rates of infant mortality attributable to birth defects (IMBD) have generally declined since the 1970s (1-3). U.S. linked birth/infant death data from 2003-2017 were used to assess trends in IMBD. Overall, rates declined 10% during 2003-2017, but decreases varied by maternal and infant characteristics. During 2003-2017, IMBD rates decreased 4% for infants of Hispanic mothers, 11% for infants of non-Hispanic black (black) mothers, and 12% for infants of non-Hispanic white (white) mothers. In 2017, these rates were highest among infants of black mothers (13.3 per 10,000 live births) and were lowest among infants of white mothers (9.9). During 2003-2017, IMBD rates for infants who were born extremely preterm (20-27 completed gestational weeks), full term (39-40 weeks), and late term/postterm (41-44 weeks) declined 20%-29%; rates for moderate (32-33 weeks) and late preterm (34-36 weeks) infants increased 17%. Continued tracking of IMBD rates can help identify areas where efforts to reduce IMBD are needed, such as among infants born to black and Hispanic mothers and those born moderate and late preterm (32-36 weeks). |
Neural tube defects in pregnancies among women with diagnosed HIV infection - 15 jurisdictions, 2013-2017
Reefhuis J , FitzHarris LF , Gray KM , Nesheim S , Tinker SC , Isenburg J , Laffoon BT , Lowry J , Poschman K , Cragan JD , Stephens FK , Fornoff JE , Ward CA , Tran T , Hoover AE , Nestoridi E , Kersanske L , Piccardi M , Boyer M , Knapp MM , Ibrahim AR , Browne ML , Anderson BJ , Shah D , Forestieri NE , Maxwell J , Hauser KW , Obiri GU , Blumenfeld R , Higgins D , Espinet CP , Lopez B , Zielke K , Jackson LP , Shumate C , Russell K , Lampe MA . MMWR Morb Mortal Wkly Rep 2020 69 (1) 1-5 In May 2018, a study of birth defects in infants born to women with diagnosed human immunodeficiency virus (HIV) infection in Botswana reported an eightfold increased risk for neural tube defects (NTDs) among births with periconceptional exposure to antiretroviral therapy (ART) that included the integrase inhibitor dolutegravir (DTG) compared with other ART regimens (1). The World Health Organization* (WHO) and the U.S. Department of Health and Human Services(dagger) (HHS) promptly issued interim guidance limiting the initiation of DTG during early pregnancy and in women of childbearing age with HIV who desire pregnancy or are sexually active and not using effective contraception. On the basis of additional data, WHO now recommends DTG as a preferred treatment option for all populations, including women of childbearing age and pregnant women. Similarly, the U.S. recommendations currently state that DTG is a preferred antiretroviral drug throughout pregnancy (with provider-patient counseling) and as an alternative antiretroviral drug in women who are trying to conceive.( section sign) Since 1981 and 1994, CDC has supported separate surveillance programs for HIV/acquired immunodeficiency syndrome (AIDS) (2) and birth defects (3) in state health departments. These two surveillance programs can inform public health programs and policy, linkage to care, and research activities. Because birth defects surveillance programs do not collect HIV status, and HIV surveillance programs do not routinely collect data on occurrence of birth defects, the related data have not been used by CDC to characterize birth defects in births to women with HIV. Data from these two programs were linked to estimate overall prevalence of NTDs and prevalence of NTDs in HIV-exposed pregnancies during 2013-2017 for 15 participating jurisdictions. Prevalence of NTDs in pregnancies among women with diagnosed HIV infection was 7.0 per 10,000 live births, similar to that among the general population in these 15 jurisdictions, and the U.S. estimate based on data from 24 states. Successful linking of data from birth defects and HIV/AIDS surveillance programs for pregnancies among women with diagnosed HIV infection suggests that similar data linkages might be used to characterize possible associations between maternal diseases or maternal use of medications, such as integrase strand transfer inhibitors used to manage HIV, and pregnancy outcomes. Although no difference in NTD prevalence in HIV-exposed pregnancies was found, data on the use of integrase strand transfer inhibitors in pregnancy are needed to understand the safety and risks of these drugs during pregnancy. |
Population-based birth defects data in the United States, 2012-2016: A focus on abdominal wall defects
Stallings EB , Isenburg JL , Short TD , Heinke D , Kirby RS , Romitti PA , Canfield MA , O'Leary LA , Liberman RF , Forestieri NE , Nembhard WN , Sandidge T , Nestoridi E , Salemi JL , Nance AE , Duckett K , Ramirez GM , Shan X , Shi J , Lupo PJ . Birth Defects Res 2019 111 (18) 1436-1447 BACKGROUND/OBJECTIVES: In this report, the National Birth Defects Prevention Network (NBDPN) examines and compares gastroschisis and omphalocele for a recent 5-year birth cohort using data from 30 population-based birth defect surveillance programs in the United States. METHODS: As a special call for data for the 2019 NBDPN Annual Report, state programs reported expanded data on gastroschisis and omphalocele for birth years 2012-2016. We estimated the overall prevalence (per 10,000 live births) and 95% confidence intervals (CI) for each defect as well as by maternal race/ethnicity, maternal age, infant sex, and case ascertainment methodology utilized by the program (active vs. passive). We also compared distribution of cases by maternal and infant factors and presence/absence of other birth defects. RESULTS: The overall prevalence estimates (per 10,000 live births) were 4.3 (95% CI: 4.1-4.4) for gastroschisis and 2.1 (95% CI: 2.0-2.2) for omphalocele. Gastroschisis was more frequent among young mothers (<25 years) and omphalocele more common among older mothers (>40 years). Mothers of infants with gastroschisis were more likely to be underweight/normal weight prior to pregnancy and mothers of infants with omphalocele more likely to be overweight/obese. Omphalocele was twice as likely as gastroschisis to co-occur with other birth defects. CONCLUSIONS: This report highlights important differences between gastroschisis and omphalocele. These differences indicate the importance of distinguishing between these defects in epidemiologic assessments. The report also provides additional data on co-occurrence of gastroschisis and omphalocele with other birth defects. This information can provide a basis for future research to better understand these defects. |
National population-based estimates for major birth defects, 2010-2014
Mai CT , Isenburg JL , Canfield MA , Meyer RE , Correa A , Alverson CJ , Lupo PJ , Riehle-Colarusso T , Cho SJ , Aggarwal D , Kirby RS . Birth Defects Res 2019 111 (18) 1420-1435 BACKGROUND: Using the National Birth Defects Prevention Network (NBDPN) annual data report, U.S. national prevalence estimates for major birth defects are developed based on birth cohort 2010-2014. METHODS: Data from 39 U.S. population-based birth defects surveillance programs (16 active case-finding, 10 passive case-finding with case confirmation, and 13 passive without case confirmation) were used to calculate pooled prevalence estimates for major defects by case-finding approach. Fourteen active case-finding programs including at least live birth and stillbirth pregnancy outcomes monitoring approximately one million births annually were used to develop national prevalence estimates, adjusted for maternal race/ethnicity (for all conditions examined) and maternal age (trisomies and gastroschisis). These calculations used a similar methodology to the previous estimates to examine changes over time. RESULTS: The adjusted national birth prevalence estimates per 10,000 live births ranged from 0.62 for interrupted aortic arch to 16.87 for clubfoot, and 19.93 for the 12 critical congenital heart defects combined. While the birth prevalence of most birth defects studied remained relatively stable over 15 years, an increasing prevalence was observed for gastroschisis and Down syndrome. Additionally, the prevalence for atrioventricular septal defect, tetralogy of Fallot, omphalocele, and trisomy 18 increased in this period compared to the previous periods. Active case-finding programs generally had higher prevalence rates for most defects examined, most notably for anencephaly, anophthalmia/microphthalmia, trisomy 13, and trisomy 18. CONCLUSION: National estimates of birth defects prevalence provide data for monitoring trends and understanding the impact of these conditions. Increasing prevalence rates observed for selected conditions warrant further examination. |
Prevalence of selected birth defects by maternal nativity status, United States, 1999-2007
Kirby RS , Mai CT , Wingate MS , Janevic T , Copeland GE , Flood TJ , Isenburg J , Canfield MA . Birth Defects Res 2019 111 (11) 630-639 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. |
Gastroschisis trends and ecologic link to opioid prescription rates - United States, 2006-2015
Short TD , Stallings EB , Isenburg J , O'Leary LA , Yazdy MM , Bohm MK , Ethen M , Chen X , Tran T , Fox DJ , Fornoff J , Forestieri N , Ferrell E , Ramirez GM , Kim J , Shi J , Cho SJ , Duckett K , Nelson N , Zielke K , St John K , Martin B , Clark C , Huynh MP , Benusa C , Reefhuis J . MMWR Morb Mortal Wkly Rep 2019 68 (2) 31-36 Prevalence of gastroschisis, a serious birth defect of the abdominal wall resulting in some of the abdominal contents extending outside the body at birth, has been increasing worldwide (1,2). Gastroschisis requires surgical repair after birth and is associated with digestive and feeding complications during infancy, which can affect development. Recent data from 14 U.S. states indicated an increasing prevalence of gastroschisis from 1995 to 2012 (1). Young maternal age has been strongly associated with gastroschisis, but research suggests that risk factors such as smoking, genitourinary infections, and prescription opioid use also might be associated (3-5). Data from 20 population-based state surveillance programs were pooled and analyzed to assess age-specific gastroschisis prevalence during two 5-year periods, 2006-2010 and 2011-2015, and an ecologic approach was used to compare annual gastroschisis prevalence by annual opioid prescription rate categories. Gastroschisis prevalence increased only slightly (10%) from 2006-2010 to 2011-2015 (prevalence ratio = 1.1, 95% confidence interval [CI] = 1.0-1.1), with the highest prevalence among mothers aged <20 years. During 2006-2015, the prevalence of gastroschisis was 1.6 times higher in counties with high opioid prescription rates (5.1 per 10,000 live births; CI = 4.9-5.3) and 1.4 times higher where opioid prescription rates were medium (4.6 per 10,000 live births; CI = 4.4-4.8) compared with areas with low prescription rates (3.2 per 10,000 live births; CI = 3.1-3.4). Public health research is needed to understand factors contributing to the association between young maternal age and gastroschisis and assess the effect of prescription opioid use during pregnancy on this pregnancy outcome. |
Population-based birth defects data in the United States, 2011-2015: A focus on eye and ear defects
Stallings EB , Isenburg JL , Mai CT , Liberman RF , Moore CA , Canfield MA , Salemi JL , Kirby RS , Short TD , Nembhard WN , Forestieri NE , Heinke D , Alverson CJ , Romitti PA , Huynh MP , Denson LE , Judson EM , Lupo PJ . Birth Defects Res 2018 110 (19) 1478-1486 BACKGROUND/OBJECTIVES: In this data brief, we examine major eye and ear anomalies (anophthalmia/microphthalmia, anotia/microtia, and congenital cataract) for a recent 5-year birth cohort using data from 30 population-based birth defects surveillance programs in the United States. METHODS: As a special call for data for the 2018 NBDPN Annual Report, state programs reported expanded data on eye/ear anomalies for birth years 2011-2015. We calculated the combined overall prevalence (per 10,000 live births) and 95% confidence intervals (CI), for the three anomalies as well as by maternal age, maternal race/ethnicity, infant sex, laterality, presence/absence of other major birth defects, and case ascertainment methodology utilized by the program (active vs. passive). RESULTS: The overall prevalence estimate (per 10,000 live births) was 1.5 (95% CI: 1.4-1.5) for anophthalmia/microphthalmia, 1.5 (95% CI: 1.4-1.6) for congenital cataract, and 1.8 (95% CI: 1.7-1.8) for anotia/microtia. Congenital cataract prevalence varied little by maternal race/ethnicity, infant sex, or case ascertainment methodology; prevalence differences were more apparent across strata for anophthalmia/microphthalmia and anotia/microtia. Prevalence among active vs. passive ascertainment programs was 50% higher for anophthalmia/microphthalmia (1.9 vs. 1.2) and two-fold higher for anotia/microtia (2.6 vs. 1.2). Anophthalmia/microphthalmia was more likely than other conditions to co-occur with other birth defects. All conditions were more frequent among older mothers (40+ years). CONCLUSIONS: This data brief provides recent prevalence estimates for anophthalmia/microphthalmia, congenital cataract, and anotia/microtia that address a data gap by examining pooled data from 30 population-based surveillance systems, covering a five-year birth cohort of about 12.4 million births. |
Population-based surveillance of birth defects potentially related to Zika virus infection - 15 states and U.S. territories, 2016
Delaney A , Mai C , Smoots A , Cragan J , Ellington S , Langlois P , Breidenbach R , Fornoff J , Dunn J , Yazdy M , Scotto-Rosato N , Sweatlock J , Fox D , Palacios J , Forestieri N , Leedom V , Smiley M , Nance A , Lake-Burger H , Romitti P , Fall C , Prado MV , Barton J , Bryan JM , Arias W , Brown SV , Kimura J , Mann S , Martin B , Orantes L , Taylor A , Nahabedian J , Akosa A , Song Z , Martin S , Ramlal R , Shapiro-Mendoza C , Isenburg J , Moore CA , Gilboa S , Honein MA . MMWR Morb Mortal Wkly Rep 2018 67 (3) 91-96 Zika virus infection during pregnancy can cause serious birth defects, including microcephaly and brain abnormalities (1). Population-based birth defects surveillance systems are critical to monitor all infants and fetuses with birth defects potentially related to Zika virus infection, regardless of known exposure or laboratory evidence of Zika virus infection during pregnancy. CDC analyzed data from 15 U.S. jurisdictions conducting population-based surveillance for birth defects potentially related to Zika virus infection.* Jurisdictions were stratified into the following three groups: those with 1) documented local transmission of Zika virus during 2016; 2) one or more cases of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents; and 3) less than one case of confirmed, symptomatic, travel-associated Zika virus disease reported to CDC per 100,000 residents. A total of 2,962 infants and fetuses (3.0 per 1,000 live births; 95% confidence interval [CI] = 2.9-3.2) (2) met the case definition.(dagger) In areas with local transmission there was a non-statistically significant increase in total birth defects potentially related to Zika virus infection from 2.8 cases per 1,000 live births in the first half of 2016 to 3.0 cases in the second half (p = 0.10). However, when neural tube defects and other early brain malformations (NTDs)( section sign) were excluded, the prevalence of birth defects strongly linked to congenital Zika virus infection increased significantly, from 2.0 cases per 1,000 live births in the first half of 2016 to 2.4 cases in the second half, an increase of 29 more cases than expected (p = 0.009). These findings underscore the importance of surveillance for birth defects potentially related to Zika virus infection and the need for continued monitoring in areas at risk for Zika. |
Population-based birth defects data in the United States, 2010-2014: A focus on gastrointestinal defects
Lupo PJ , Isenburg JL , Salemi JL , Mai CT , Liberman RF , Canfield MA , Copeland G , Haight S , Harpavat S , Hoyt AT , Moore CA , Nembhard WN , Nguyen HN , Rutkowski RE , Steele A , Alverson CJ , Stallings EB , Kirby RS . Birth Defects Res 2017 109 (18) 1504-1514 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. |
Baseline prevalence of birth defects associated with congenital Zika virus infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014
Cragan JD , Mai CT , Petersen EE , Liberman RF , Forestieri NE , Stevens AC , Delaney A , Dawson AL , Ellington SR , Shapiro-Mendoza CK , Dunn JE , Higgins CA , Meyer RE , Williams T , Polen KN , Newsome K , Reynolds M , Isenburg J , Gilboa SM , Meaney-Delman DM , Moore CA , Boyle CA , Honein MA . MMWR Morb Mortal Wkly Rep 2017 66 (8) 219-222 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 malformationsdagger (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. |
Folic acid education for Hispanic women: The Promotora de Salud Model
Flores AL , Isenburg J , Hillard CL , deRosset L , Colen L , Bush T , Mai CT . J Womens Health (Larchmt) 2017 26 (2) 186-194 BACKGROUND: Although rates of neural tube defects (NTDs) have declined in the United States since fortification, disparities still exist with Hispanic women having the highest risk of giving birth to a baby with a NTD. The Promotora de Salud model using community lay health workers has been shown to be an effective tool for reaching Hispanics for a variety of health topics; however, literature on its effectiveness in folic acid interventions is limited. MATERIALS AND METHODS: An intervention using the Promotora de Salud model was implemented in four U.S. counties with large populations of Hispanic women. The study comprised the following: (1) a written pretest survey to establish baseline levels of folic acid awareness, knowledge, and consumption; (2) a small group education intervention along with a 90-day supply of multivitamins; and (3) a postintervention (posttest) assessment conducted 4 months following the intervention. RESULTS: Statistically significant differences in pre- and posttests were observed for general awareness about folic acid and vitamins and specific knowledge about the benefits of folic acid. Statistically significant changes were also seen in vitamin consumption and multivitamin consumption. Folic acid supplement consumption increased dramatically by the end of the study. CONCLUSIONS: The Promotora de Salud model relies on interpersonal connections forged between promotoras and the communities they serve to help drive positive health behaviors. The findings underscore the positive impact that these interpersonal connections can have on increasing awareness, knowledge, and consumption of folic acid. Utilizing the Promotora de Salud model to reach targeted populations might help organizations successfully implement their programs in a culturally appropriate manner. |
Population-based microcephaly surveillance in the United States, 2009 to 2013: An analysis of potential sources of variation
Cragan JD , Isenburg JL , Parker SE , Alverson CJ , Meyer RE , Stallings EB , Kirby RS , Lupo PJ , Liu JS , Seagroves A , Ethen MK , Cho SJ , Evans M , Liberman RF , Fornoff J , Browne ML , Rutkowski RE , Nance AE , Anderka M , Fox DJ , Steele A , Copeland G , Romitti PA , Mai CT . Birth Defects Res A Clin Mol Teratol 2016 106 (11) 972-982 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 <20 years (11.5) and ≥40 years (13.2). For gestational age and birth weight, the highest prevalence was among infants <32 weeks gestation and infants <1500 gm. Case definitions varied; 41.8% of cases had an HC ≥ the 10th percentile for sex and gestational age. CONCLUSION: Differences in methods, population distribution of maternal/infant characteristics, and case definitions for microcephaly can contribute to the wide range of observed prevalence estimates across individual birth defects surveillance programs. Addressing these factors in the setting of Zika virus infection can improve the quality of prevalence estimates. |
Increasing prevalence of gastroschisis - 14 States, 1995-2012
Jones AM , Isenburg J , Salemi JL , Arnold KE , Mai CT , Aggarwal D , Arias W , Carrino GE , Ferrell E , Folorunso O , Ibe B , Kirby RS , Krapfl HR , Marengo LK , Mosley BS , Nance AE , Romitti PA , Spadafino J , Stock J , Honein MA . MMWR Morb Mortal Wkly Rep 2016 65 (2) 23-6 Gastroschisis is a serious congenital defect in which the intestines protrude through an opening in the abdominal wall. Gastroschisis requires surgical repair soon after birth and is associated with an increased risk for medical complications and mortality during infancy. Reports from multiple surveillance systems worldwide have documented increasing prevalence of gastroschisis since the 1980s, particularly among younger mothers; however, since publication of a multistate U.S. report that included data through 2005 (1), it is not known whether prevalence has continued to increase. Data on gastroschisis from 14 population-based state surveillance programs were pooled and analyzed to assess the average annual percent change (AAPC) in prevalence and to compare the prevalence during 2006-2012 with that during 1995-2005, stratified by maternal age and race/ethnicity. The pooled data included approximately 29% of U.S. births for the period 1995-2012. During 1995-2012, gastroschisis prevalence increased in every category of maternal age and race/ethnicity, and the AAPC ranged from 3.1% in non-Hispanic white (white) mothers aged <20 years to 7.9% in non-Hispanic black (black) mothers aged <20 years. These corresponded to overall percentage increases during 1995-2012 that ranged from 68% in white mothers aged <20 years to 263% in black mothers aged <20 years. Gastroschisis prevalence increased 30% between the two periods, from 3.6 per 10,000 births during 1995-2005 to 4.9 per 10,000 births during 2006-2012 (prevalence ratio = 1.3, 95% confidence interval [CI]: 1.3-1.4), with the largest increase among black mothers aged <20 years (prevalence ratio = 2.0, 95% CI: 1.6-2.5). Public health research is urgently needed to identify factors contributing to this increase. |
Population-based birth defects data in the United States, 2008 to 2012: Presentation of state-specific data and descriptive brief on variability of prevalence
Mai CT , Isenburg J , Langlois PH , Alverson CJ , Gilboa SM , Rickard R , Canfield MA , Anjohrin SB , Lupo PJ , Jackson DR , Stallings EB , Scheuerle AE , Kirby RS . Birth Defects Res A Clin Mol Teratol 2015 103 (11) 972-93 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)]. |
Development and implementation of the first national data quality standards for population-based birth defects surveillance programs in the United States
Anderka M , Mai CT , Romitti PA , Copeland G , Isenburg J , Feldkamp ML , Krikov S , Rickard R , Olney RS , Canfield MA , Stanton C , Mosley B , Kirby RS . BMC Public Health 2015 15 (1) 925 BACKGROUND: Population-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. METHODS: Based 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. RESULTS: Of 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. CONCLUSIONS: This 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. |
Updated estimates of neural tube defects prevented by mandatory folic acid fortification - United States, 1995-2011
Williams J , Mai CT , Mulinare J , Isenburg J , Flood TJ , Ethen M , Frohnert B , Kirby RS . MMWR Morb Mortal Wkly Rep 2015 64 (1) 1-5 In 1992, the U.S. Public Health Service recommended that all women capable of becoming pregnant consume 400 microg of folic acid daily to prevent neural tube defects (NTDs). NTDs are major birth defects of the brain and spine that occur early in pregnancy as a result of improper closure of the embryonic neural tube, which can lead to death or varying degrees of disability. The two most common NTDs are anencephaly and spina bifida. Beginning in 1998, the United States mandated fortification of enriched cereal grain products with 140 microg of folic acid per 100 g. Immediately after mandatory fortification, the birth prevalence of NTD cases declined. Fortification was estimated to avert approximately 1,000 NTD-affected pregnancies annually. To provide updated estimates of the birth prevalence of NTDs in the period after introduction of mandatory folic acid fortification (i.e., the post-fortification period), data from 19 population-based birth defects surveillance programs in the United States, covering the years 1999-2011, were examined. After the initial decrease, NTD birth prevalence during the post-fortification period has remained relatively stable. The number of births occurring annually without NTDs that would otherwise have been affected is approximately 1,326 (95% confidence interval = 1,122-1,531). Mandatory folic acid fortification remains an effective public health intervention. There remain opportunities for prevention among women with lower folic acid intakes, especially among Hispanic women, to further reduce the prevalence of NTDs in the United States. |
Birth defects data from population-based birth defects surveillance programs in the United States, 2007 to 2011: highlighting orofacial clefts
Mai CT , Cassell CH , Meyer RE , Isenburg J , Canfield MA , Rickard R , Olney RS , Stallings EB , Beck M , Hashmi SS , Cho SJ , Kirby RS . Birth Defects Res A Clin Mol Teratol 2014 100 (11) 895-904 The National Birth Defects Prevention Network (NBDPN) published the first Congenital Malformations Surveillance Report in 1997 and has annually released a report since 2000 that contains state-specific population-based data on major birth defects and a directory describing data collection information for population-based birth defects surveillance programs in the United States. The birth defects in these reports have included conditions affecting major organs of the central nervous, eye, ear, cardiovascular, orofacial, gastrointestinal, genitourinary, and musculoskeletal systems, as well as other disorders, including trisomies and amniotic band sequence. | In 2014, the NBDPN released an updated list of major birth defects as part of its national standards development for birth defects surveillance. The criteria used to guide deliberations for inclusion on the reportable list were: (1) public health importance; (2) accuracy of diagnosis; (3) amenable to prevention/intervention; (4) state of knowledge; (5) structural malformations, diagnosed within the first year of life; and (6) ability to separate into syndromic/nonsyndromic. For example, the NBDPN list now includes all 12 critical congenital heart defects (CCHDs) that are primary and secondary targets of pulse oximetry screening as a result of the addition of CCHD to the U.S. Recommended Universal Screening Panel for newborns (Mahle et al., 2012). Other noncardiac conditions that were added include clubfoot, cloacal exstrophy, craniosynostosis, deletion 22q11.2, holoprosencephaly, small intestinal atresia/stenosis, and Turner syndrome. These additions were balanced with the removal of several conditions, including: amniotic bands, aniridia, congenital hip dislocation, epispadias, fetus or newborn affected by maternal alcohol use, Hirschsprung disease (congenital megacolon), hydrocephalus, microcephalus, patent ductus arterious, and pyloric stenosis. Additional modifications to the list resulted in the regrouping of some conditions. Upper and lower limb deficiencies were collapsed into all limb deficiencies, while cleft lip with or without cleft palate was separated into cleft lip alone and cleft lip with cleft palate. Finally, obstructive genitourinary defect was limited to just the reporting of congenital posterior urethral valves. Table 1 presents the new reported list of birth defects 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]). |
Selected birth defects data from population-based birth defects surveillance programs in the United States, 2006 to 2010: featuring trisomy conditions
Mai CT , Kucik JE , Isenburg J , Feldkamp ML , Marengo LK , Bugenske EM , Thorpe PG , Jackson JM , Correa A , Rickard R , Alverson CJ , Kirby RS . Birth Defects Res A Clin Mol Teratol 2013 97 (11) 709-25 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. |
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