Last data update: May 06, 2024. (Total: 46732 publications since 2009)
Records 1-22 (of 22 Records) |
Query Trace: Siffel C[original query] |
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Survival disparities associated with congenital diaphragmatic hernia
Hinton CF , Siffel C , Correa A , Shapira SK . Birth Defects Res 2017 109 (11) 816-823 BACKGROUND: We assessed sociodemographic and clinical factors that are associated with survival among infants with congenital diaphragmatic hernia (CDH). METHODS: Using data from the Metropolitan Atlanta Congenital Defects Program, we ascertained 150 infants born with CDH between 1979 and 2003 and followed via linkage with state vital records and the National Death Index. Kaplan-Meier survival probabilities and adjusted hazard ratios (HRs) were calculated for socioeconomic and clinical characteristics. RESULTS: Survival increased from 40 to 62% over the study period. White infants born before 1988 were 2.9 times less likely to survive than those born after 1988. Black infants' survival did not show significant improvement after 1988. White infants' survival was not significantly affected by poverty, whereas black infants born in higher levels of poverty were 2.7 times less likely to survive than black infants born in lower levels of neighborhood poverty. White infants with multiple major birth defects were 2.6 times less likely to survive than those with CDH alone. The presence of multiple defects was not significantly associated with survival among black infants. CONCLUSIONS: Survival among infants and children with CDH has improved over time among whites, but not among blacks. Poverty is associated with lower survival among blacks, but not among whites. The presence of multiple defects is associated with lower survival among whites, but not among blacks. The differential effects of poverty and race should be taken into account when studying disparities in health outcomes. |
Survival of children with hypoplastic left heart syndrome
Siffel C , Riehle-Colarusso T , Oster ME , Correa A . Pediatrics 2015 136 (4) e864-70 OBJECTIVE: To examine the survival of infants with hypoplastic left heart syndrome (HLHS) and potential influence of demographic and clinical characteristics on survival using population-based data. METHODS: Infants with nonsyndromic HLHS (n = 212) born between 1979 and 2005 were identified through the Metropolitan Atlanta Congenital Defects Program. Vital status was ascertained through 2009 based on linkage with vital records. We estimated Kaplan-Meier survival probabilities stratified by select demographic and clinical characteristics. RESULTS: The overall survival probability to 2009 was 24% and significantly improved over time: from 0% in 1979-1984 to 32% in 1999-2005. Survival probability was 66% during the first week, 27% during the first year of life, and 24% during the first 10 years. Survival of very low and low birth weight or preterm infants and those born in high-poverty neighborhoods was significantly poorer. For children with information on surgical intervention (n = 88), the overall survival was 52%, and preterm infants had significantly poorer survival (31%) compared with term infants (56%). For children who survived to 1 year of age, long-term survival was approximately 90%. CONCLUSIONS: Survival to adolescence of children with nonsyndromic HLHS born in metropolitan Atlanta has significantly improved in recent years, with those born full term, with normal birth weight, or in a low-poverty neighborhood having a higher survival probability. Survival beyond infancy to adolescence is high. A better understanding of the growing population of survivors with HLHS is needed to inform resource planning. |
Maternal exposure to criteria air pollutants and congenital heart defects in offspring: results from the National Birth Defects Prevention Study
Stingone JA , Luben TJ , Daniels JL , Fuentes M , Richardson DB , Aylsworth AS , Herring AH , Anderka M , Botto L , Correa A , Gilboa SM , Langlois PH , Mosley B , Shaw GM , Siffel C , Olshan AF . Environ Health Perspect 2014 122 (8) 863-72 BACKGROUND: Epidemiologic literature suggests exposure to air pollutants is associated with fetal development. OBJECTIVES: To investigate maternal exposures to air pollutants during weeks two through eight of pregnancy and congenital heart defects. METHODS: Mothers from the National Birth Defects Prevention Study, a nine-state case-control study, were assigned one-week and seven-week averages of daily maximum concentrations of carbon monoxide, nitrogen dioxide, ozone, and sulfur dioxide and 24-hour measurements of fine and coarse particulate matter using the closest air monitor within 50 km to their residence during early pregnancy. Depending upon the pollutant, a maximum of 4632 live-birth controls and 3328 live-birth, fetal-death or electively terminated cases had exposure data. Hierarchical regression models, adjusted for maternal demographics, tobacco and alcohol use, were constructed. Principal component analysis was used to assess these relationships in a multipollutant context. RESULTS: Positive associations were observed between exposure to nitrogen dioxide and coarctation of the aorta and pulmonary valve stenosis. Exposure to fine particulate matter was positively associated with hypoplastic left heart syndrome but inversely associated with atrial septal defects. Examining individual exposure-weeks suggested associations between pollutants and defects that were not observed using the seven-week average. Associations between left ventricular outflow tract obstructions and nitrogen dioxide and hypoplastic left heart syndrome and particulate matter were supported by findings from the multipollutant analyses, although estimates were attenuated at the highest exposure levels. CONCLUSIONS: Utilizing daily maximum pollutant levels and exploring individual exposure-weeks revealed some positive associations between certain pollutants and defects and suggested potential windows of susceptibility during pregnancy. |
Modeling travel impedance to medical care for children with birth defects using Geographic Information Systems
Delmelle EM , Cassell CH , Dony C , Radcliff E , Tanner JP , Siffel C , Kirby RS . Birth Defects Res A Clin Mol Teratol 2013 97 (10) 673-84 BACKGROUND: Children with birth defects may face significant geographic barriers accessing medical care and specialized services. Using a Geographic Information Systems-based approach, one-way travel time and distance to access medical care for children born with spina bifida was estimated. METHODS: Using 2007 road information from the Florida Department of Transportation, we built a topological network of Florida roads. Live-born Florida infants with spina bifida during 1998 to 2007 were identified by the Florida Birth Defects Registry and linked to hospital discharge records. Maternal residence at delivery and hospitalization locations were identified during the first year of life. RESULTS: Of 668 infants with spina bifida, 8.1% (n = 54) could not be linked to inpatient data, resulting in 614 infants. Of those 614 infants, 99.7% (n = 612) of the maternal residential addresses at delivery were successfully geocoded. Infants with spina bifida living in rural areas in Florida experienced travel times almost twice as high compared with those living in urban areas. When aggregated at county levels, one-way network travel times exhibited statistically significant spatial autocorrelation, indicating that families living in some clusters of counties experienced substantially greater travel times compared with families living in other areas of Florida. CONCLUSION: This analysis demonstrates the usefulness of linking birth defects registry and hospital discharge data to examine geographic differences in access to medical care. Geographic Information Systems methods are important in evaluating accessibility and geographic barriers to care and could be used among children with special health care needs, including children with birth defects. |
The natural history of spina bifida in children pilot project: research protocol
Alriksson-Schmidt AI , Thibadeau JK , Swanson ME , Marcus D , Carris KL , Siffel C , Ward E . JMIR Res Protoc 2013 2 (1) e2 BACKGROUND: Population-based empirical information to inform health care professionals working with children with spina bifida currently is lacking. Spina bifida is a highly complex condition that not only affects mobility but many additional aspects of life. We have developed a pilot project that focuses on a broad range of domains: surgeries, development and learning, nutrition and physical growth, mobility and functioning, general health, and family demographics. Specifically, we will: (1) explore the feasibility of identifying and recruiting participants using different recruitment sources, (2) test a multidisciplinary module to collect the data, (3) determine the utility of different methods of retrieving the data, and (4) summarize descriptive information on living with spina bifida. OBJECTIVE: The overall objective of the project was to provide information for a future multistate prospective study on the natural history of spina bifida. METHODS: Families with a child 3 to 6 years of age with a diagnosis of spina bifida were eligible for enrollment. Eligible families were identified through a US population-based tracking system for birth defects and from a local spina bifida clinic. RESULTS: This is an ongoing project with first results expected in 2013. CONCLUSIONS: This project, and the planned multistate follow-up project, will provide information both to health care professionals experienced in providing care to patients with spina bifida, and to those who have yet to work with this population. The long-term purpose of this project is to increase the knowledge about growing up with spina bifida and to guide health care practices by prospectively studying a cohort of children born with this condition. (JMIR Res Protoc 2013; 2(1): e2) doi:10.2196/resprot.2209 |
Trends in survival among children with Down syndrome in 10 regions of the United States
Kucik JE , Shin M , Siffel C , Marengo L , Correa A . Pediatrics 2013 131 (1) e27-36 OBJECTIVE: This study examined changes in survival among children with Down syndrome (DS) by race/ethnicity in 10 regions of the United States. A retrospective cohort study was conducted on 16,506 infants with DS delivered during 1983-2003 and identified by 10 US birth defects monitoring programs. Kaplan-Meier survival probabilities were estimated by select demographic and clinical characteristics. Adjusted hazard ratios (aHR) were estimated for maternal and infant characteristics by using Cox proportional hazard models. RESULTS: The overall 1-month and 1-, 5-, and 20-year survival probabilities were 98%, 93%, 91%, and 88%, respectively. Over the study period, neonatal survival did not improve appreciably, but survival at all other ages improved modestly. Infants of very low birth weight had 24 times the risk of dying in the neonatal period compared with infants of normal birth weight (aHR 23.8; 95% confidence interval [CI] 18.4-30.7). Presence of a heart defect increased the risk of death in the postneonatal period nearly fivefold (aHR 4.6; 95% CI 3.9-5.4) and continued to be one of the most significant predictors of mortality through to age 20. The postneonatal aHR among non-Hispanic blacks was 1.4 (95% CI 1.2-1.8) compared with non-Hispanic whites and remained elevated by age 10 (2.0; 95% CI 1.0-4.0). CONCLUSIONS: The survival of children born with DS has improved and racial disparities in infant survival have narrowed. However, compared with non-Hispanic white children, non-Hispanic black children have lower survival beyond infancy. Congenital heart defects are a significant risk factor for mortality through age twenty. |
Prevalence of esophageal atresia among 18 international birth defects surveillance programs
Nassar N , Leoncini E , Amar E , Arteaga-Vazquez J , Bakker MK , Bower C , Canfield MA , Castilla EE , Cocchi G , Correa A , Csaky-Szunyogh M , Feldkamp ML , Khoshnood B , Landau D , Lelong N , Lopez-Camelo JS , Lowry RB , McDonnell R , Merlob P , Metneki J , Morgan M , Mutchinick OM , Palmer MN , Rissmann A , Siffel C , Sipek A , Szabova E , Tucker D , Mastroiacovo P . Birth Defects Res A Clin Mol Teratol 2012 94 (11) 893-9 BACKGROUND: The prevalence of esophageal atresia (EA) has been shown to vary across different geographical settings. Investigation of geographical differences may provide an insight into the underlying etiology of EA. METHODS: The study population comprised infants diagnosed with EA during 1998 to 2007 from 18 of the 46 birth defects surveillance programs, members of the International Clearinghouse for Birth Defects Surveillance and Research. Total prevalence per 10,000 births for EA was defined as the total number of cases in live births, stillbirths, and elective termination of pregnancy for fetal anomaly (ETOPFA) divided by the total number of all births in the population. RESULTS: Among the participating programs, a total of 2943 cases of EA were diagnosed with an average prevalence of 2.44 (95% confidence interval [CI], 2.35-2.53) per 10,000 births, ranging between 1.77 and 3.68 per 10,000 births. Of all infants diagnosed with EA, 2761 (93.8%) were live births, 82 (2.8%) stillbirths, 89 (3.0%) ETOPFA, and 11 (0.4%) had unknown outcomes. The majority of cases (2020, 68.6%), had a reported EA with fistula, 749 (25.5%) were without fistula, and 174 (5.9%) were registered with an unspecified code. CONCLUSIONS: On average, EA affected 1 in 4099 births (95% CI, 1 in 3954-4251 births) with prevalence varying across different geographical settings, but relatively consistent over time and comparable between surveillance programs. Findings suggest that differences in the prevalence observed among programs are likely to be attributable to variability in population ethnic compositions or issues in reporting or registration procedures of EA, rather than a real risk occurrence difference. (Birth Defects Research (Part A), 2012. (c) 2012 Wiley Periodicals, Inc.) |
Improved survival among children with spina bifida in the United States
Shin M , Kucik JE , Siffel C , Lu C , Shaw GM , Canfield MA , Correa A . J Pediatr 2012 161 (6) 1132-7 OBJECTIVE: To evaluate trends in survival among children with spina bifida by race/ethnicity and possible prognostic factors in 10 regions of the United States. STUDY DESIGN: A retrospective cohort study was conducted of 5165 infants with spina bifida born during 1979-2003, identified by 10 birth defects registries in the United States. Survival probabilities and adjusted hazard ratios were estimated for race/ethnicity and other characteristics using the Cox proportional hazard model. RESULTS: During the study period, the 1-year survival probability among infants with spina bifida showed improvements for whites (from 88% to 96%), blacks (from 79% to 88%), and Hispanics (from 88% to 93%). The impact of race/ethnicity on survival varied by birth weight, which was the strongest predictor of survival through age 8. There was little racial/ethnic variation in survival among children born of very low birth weight. Among children born of low birth weight, the increased risk of mortality to Hispanics was approximately 4-6 times that of whites. The black-white disparity was greatest among children born of normal birth weight. Congenital heart defects did not affect the risk of mortality among very low birth weight children but increased the risk of mortality 4-fold among children born of normal birth weight. CONCLUSIONS: The survival of infants born with spina bifida has improved; however, improvements in survival varied by race/ethnicity, and blacks and Hispanics continued to have poorer survival than whites in the most recent birth cohort from 1998-2002. Further studies are warranted to elucidate possible reasons for the observed differences in survival. |
Phocomelia: a worldwide descriptive epidemiologic study in a large series of cases from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
Bermejo-Sanchez E , Cuevas L , Amar E , Bianca S , Bianchi F , Botto LD , Canfield MA , Castilla EE , Clementi M , Cocchi G , Landau D , Leoncini E , Li Z , Lowry RB , Mastroiacovo P , Mutchinick OM , Rissmann A , Ritvanen A , Scarano G , Siffel C , Szabova E , Martinez-Frias ML . Am J Med Genet C Semin Med Genet 2011 157 (4) 305-20 Epidemiologic data on phocomelia are scarce. This study presents an epidemiologic analysis of the largest series of phocomelia cases known to date. Data were provided by 19 birth defect surveillance programs, all members of the International Clearinghouse for Birth Defects Surveillance and Research. Depending on the program, data corresponded to a period from 1968 through 2006. A total of 22,740,933 live births, stillbirths and, for some programs, elective terminations of pregnancy for fetal anomaly (ETOPFA) were monitored. After a detailed review of clinical data, only true phocomelia cases were included. Descriptive data are presented and additional analyses compared isolated cases with those with multiple congenital anomalies (MCA), excluding syndromes. We also briefly compared congenital anomalies associated with nonsyndromic phocomelia with those presented with amelia, another rare severe congenital limb defect. A total of 141 phocomelia cases registered gave an overall total prevalence of 0.62 per 100,000 births (95% confidence interval: 0.52-0.73). Three programs (Australia Victoria, South America ECLAMC, Italy North East) had significantly different prevalence estimates. Most cases (53.2%) had isolated phocomelia, while 9.9% had syndromes. Most nonsyndromic cases were monomelic (55.9%), with an excess of left (64.9%) and upper limb (64.9%) involvement. Most nonsyndromic cases (66.9%) were live births; most isolated cases (57.9%) weighed more than 2,499 g; most MCA (60.7%) weighed less than 2,500 g, and were more likely stillbirths (30.8%) or ETOPFA (15.4%) than isolated cases. The most common associated defects were musculoskeletal, cardiac, and intestinal. Epidemiological differences between phocomelia and amelia highlighted possible differences in their causes. (c) 2011 Wiley Periodicals, Inc. |
Amelia: a multi-center descriptive epidemiologic study in a large dataset from the International Clearinghouse for Birth Defects Surveillance and Research, and overview of the literature
Bermejo-Sanchez E , Cuevas L , Amar E , Bakker MK , Bianca S , Bianchi F , Canfield MA , Castilla EE , Clementi M , Cocchi G , Feldkamp ML , Landau D , Leoncini E , Li Z , Lowry RB , Mastroiacovo P , Mutchinick OM , Rissmann A , Ritvanen A , Scarano G , Siffel C , Szabova E , Martinez-Frias ML . Am J Med Genet C Semin Med Genet 2011 157 (4) 288-304 This study describes the epidemiology of congenital amelia (absence of limb/s), using the largest series of cases known to date. Data were gathered by 20 surveillance programs on congenital anomalies, all International Clearinghouse for Birth Defects Surveillance and Research members, from all continents but Africa, from 1968 to 2006, depending on the program. Reported clinical information on cases was thoroughly reviewed to identify those strictly meeting the definition of amelia. Those with amniotic bands or limb-body wall complex were excluded. The primary epidemiological analyses focused on isolated cases and those with multiple congenital anomalies (MCA). A total of 326 amelia cases were ascertained among 23,110,591 live births, stillbirths and (for some programs) elective terminations of pregnancy for fetal anomalies. The overall total prevalence was 1.41 per 100,000 (95% confidence interval: 1.26-1.57). Only China Beijing and Mexico RYVEMCE had total prevalences, which were significantly higher than this overall total prevalence. Some under-registration could influence the total prevalence in some programs. Liveborn cases represented 54.6% of total. Among monomelic cases (representing 65.2% of nonsyndromic amelia cases), both sides were equally involved, and the upper limbs (53.9%) were slightly more frequently affected. One of the most interesting findings was a higher prevalence of amelia among offspring of mothers younger than 20 years. Sixty-nine percent of the cases had MCA or syndromes. The most frequent defects associated with amelia were other types of musculoskeletal defects, intestinal, some renal and genital defects, oral clefts, defects of cardiac septa, and anencephaly. (c) 2011 Wiley Periodicals, Inc. |
Cloacal exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research
Feldkamp ML , Botto LD , Amar E , Bakker MK , Bermejo-Sanchez E , Bianca S , Canfield MA , Castilla EE , Clementi M , Csaky-Szunyogh M , Leoncini E , Li Z , Lowry RB , Mastroiacovo P , Merlob P , Morgan M , Mutchinick OM , Rissmann A , Ritvanen A , Siffel C , Carey JC . Am J Med Genet C Semin Med Genet 2011 157 (4) 333-43 Cloacal exstrophy presents as a complex abdominal wall defect thought to result from a mesodermal abnormality. Anatomically, its main components are Omphalocele, bladder Exstrophy and Imperforate anus. Other associated malformations include renal malformations and Spine defects (OEIS complex). Historically, the prevalence ranges from 1 in 200,000 to 400,000 births, with higher rates in females. Cloacal exstrophy is likely etiologically heterogeneous as suggested by its recurrence in families and occurrence in monozygotic twins. The defect has been described in infants with limb-body wall, with trisomy 18, and in one pregnancy exposed to Dilantin and diazepam. Due to its rarity, the use of a nonspecific diagnostic code for case identification, and lack of validation of the clinical findings, cloacal exstrophy remains an epidemiologic challenge. The purpose of this study was to describe the prevalence, associated anomalies and maternal characteristics among infants born with cloacal exstrophy. We used data from the International Clearinghouse for Birth Defects Surveillance and Research submitted from 18 birth defect surveillance programs representing 24 countries. Cases were clinically evaluated locally and reviewed centrally by two authors. Cases of persistent cloaca were excluded. A total of 186 cases of cloacal exstrophy were identified. Overall prevalence was 1 in 131,579 births: ranging from 1 in 44,444 births in Wales to 1 in 269,464 births in South America. Live birth prevalence was 1 in 184,195 births. Prevalence ratios did not vary by maternal age. Forty-two (22.6%) cases met the criteria for the OEIS complex, whereas 60 (32.3%) were classified as OEI and 18 (9.7%) as EIS (one with suspected VATER (0.5%)). Other findings included two cases with trisomy 13 (one without a karyotype confirmation), one with mosaic trisomy 12 (0.5%), one with mosaic 45,X (0.5%) and one classified as having amnion band sequence (0.5%). Twenty-seven (14.5%) infants had other anomalies unrelated to cloacal exstrophy. Cloacal exstrophy is a rare anomaly with variability in prevalence by geographic location. The proportion of cases classified as OEIS complex was lower in this study than previously reported. Among all cases, 54.8% were reported to have an omphalocele. (c) 2011 Wiley Periodicals, Inc. |
Conjoined twins: a worldwide collaborative epidemiological study of the International Clearinghouse for Birth Defects Surveillance and Research
Mutchinick OM , Luna-Munoz L , Amar E , Bakker MK , Clementi M , Cocchi G , da Graca Dutra M , Feldkamp ML , Landau D , Leoncini E , Li Z , Lowry B , Marengo LK , Martinez-Frias ML , Mastroiacovo P , Metneki J , Morgan M , Pierini A , Rissman A , Ritvanen A , Scarano G , Siffel C , Szabova E , Arteaga-Vazquez J . Am J Med Genet C Semin Med Genet 2011 157 (4) 274-87 Conjoined twins (CT) are a very rare developmental accident of uncertain etiology. Prevalence has been previously estimated to be 1 in 50,000 to 1 in 100,000 births. The process by which monozygotic twins do not fully separate but form CT is not well understood. The purpose of the present study was to analyze diverse epidemiological aspects of CT, including the different variables listed in the Introduction Section of this issue of the Journal. The study was made possible using the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) structure. This multicenter worldwide research includes the largest sample of CT ever studied. A total of 383 carefully reviewed sets of CT obtained from 26,138,837 births reported by 21 Clearinghouse Surveillance Programs (SP) were included in the analysis. Total prevalence was 1.47 per 100,000 births (95% CI: 1.32-1.62). Salient findings including an evident variation in prevalence among SPs: a marked variation in the type of pregnancy outcome, a similarity in the proportion of CT types among programs: a significant female predominance in CT: particularly of the thoracopagus type and a significant male predominance in parapagus and parasitic types: significant differences in prevalence by ethnicity and an apparent increasing prevalence trend in South American countries. No genetic, environmental or demographic significant associated factors were identified. Further work in epidemiology and molecular research is necessary to understand the etiology and pathogenesis involved in the development of this fascinating phenomenon of nature. (c) 2011 Wiley Periodicals, Inc. |
Bladder exstrophy: an epidemiologic study from the International Clearinghouse for Birth Defects Surveillance and Research, and an overview of the literature
Siffel C , Correa A , Amar E , Bakker MK , Bermejo-Sanchez E , Bianca S , Castilla EE , Clementi M , Cocchi G , Csaky-Szunyogh M , Feldkamp ML , Landau D , Leoncini E , Li Z , Lowry RB , Marengo LK , Mastroiacovo P , Morgan M , Mutchinick OM , Pierini A , Rissmann A , Ritvanen A , Scarano G , Szabova E , Olney RS . Am J Med Genet C Semin Med Genet 2011 157C (4) 321-32 Bladder exstrophy (BE) is a complex congenital anomaly characterized by a defect in the closure of the lower abdominal wall and bladder. We aimed to provide an overview of the literature and conduct an epidemiologic study to describe the prevalence, and maternal and case characteristics of BE. We used data from 22 participating member programs of the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR). All cases were reviewed and classified as isolated, syndrome, and multiple congenital anomalies. We estimated the total prevalence of BE and calculated the frequency and odds ratios for various maternal and case characteristics. A total of 546 cases with BE were identified among 26,355,094 births. The total prevalence of BE was 2.07 per 100,000 births (95% CI: 1.90-2.25) and varied between 0.52 and 4.63 among surveillance programs participating in the study. BE was nearly twice as common among male as among female cases. The proportion of isolated cases was 71%. Prevalence appeared to increase with increasing categories of maternal age, particularly among isolated cases. The total prevalence of BE showed some variations by geographical region, which is most likely attributable to differences in registration of cases. The higher total prevalence among male cases and older mothers, especially among isolated cases, warrants further attention. (c) 2011 Wiley Periodicals, Inc. |
Maternal age and prevalence of isolated congenital heart defects in an urban area of the United States
Miller A , Riehle-Colarusso T , Siffel C , Frias JL , Correa A . Am J Med Genet A 2011 155A (9) 2137-45 Although maternal age has been associated with a number of birth defects in several reports, the literature on the association of maternal age with isolated congenital heart defect (CHD) phenotypes has been limited. We evaluated CHD prevalence based on a cohort of 5,289 infants and fetuses with isolated CHDs born during the period 1968-2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program (MACDP) among residents of five central counties in Atlanta. For our denominator, we obtained information on births to residents of the same counties from vital records (n = 1,301,143). We calculated prevalence ratios for 23 CHD phenotypes by several maternal age categories, using the group 25-29 years of age as a reference group. We used Poisson regression models to estimate adjusted prevalence ratios (aPRs) and 95% confidence intervals (CIs), controlling for maternal race, infant sex, and birth cohort. A maternal age of 35 years or older was associated with an increased prevalence for several CHD phenotypes: laterality defects (aPR = 2.06; CI 1.22-3.48), all conotruncal defects (aPR = 1.30; CI 1.03-1.65), and specifically for dextro-transposition of the great arteries (aPR = 1.65; CI 1.10-2.48), coarctation of the aorta (aPR = 1.54; CI 1.10-2.16), ventricular septal defects (aPR = 1.20; CI 1.06-1.36), and atrial septal defects (aPR = 1.36; CI 1.05-1.77). Our findings suggest that the birth prevalence of specific isolated CHDs varies with maternal age. Further studies are warranted to corroborate these observations, taking into account potential confounding by known modifiable risk factors. Published 2011 Wiley-Liss, Inc. |
Prevalence at birth of cleft lip with or without cleft palate: data from the International Perinatal Database of Typical Oral Clefts (IPDTOC)
IPDTOC Working Group , Correa Adolfo , Siffel Csaba . Cleft Palate Craniofac J 2011 48 (1) 66-81 As part of a collaborative project on the epidemiology of craniofacial anomalies, funded by the National Institutes for Dental and Craniofacial Research and channeled through the Human Genetics Programme of the World Health Organization, the International Perinatal Database of Typical Orofacial Clefts (IPDTOC) was established in 2003. IPDTOC is collecting case-by-case information on cleft lip with or without cleft palate and on cleft palate alone from birth defects registries contributing to at least one of three collaborative organizations: European Surveillance Systems of Congenital Anomalies (EUROCAT) in Europe, National Birth Defects Prevention Network (NBDPN) in the United States, and International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR) worldwide. Analysis of the collected information is performed centrally at the ICBDSR Centre in Rome, Italy, to maximize the comparability of results. The present paper, the first of a series, reports data on the prevalence of cleft lip with or without cleft palate from 54 registries in 30 countries over at least 1 complete year during the period 2000 to 2005. Thus, the denominator comprises more than 7.5 million births. A total of 7704 cases of cleft lip with or without cleft palate (7141 livebirths, 237 stillbirths, 301 terminations of pregnancy, and 25 with pregnancy outcome unknown) were available. The overall prevalence of cleft lip with or without cleft palate was 9.92 per 10,000. The prevalence of cleft lip was 3.28 per 10,000, and that of cleft lip and palate was 6.64 per 10,000. There were 5918 cases (76.8%) that were isolated, 1224 (15.9%) had malformations in other systems, and 562 (7.3%) occurred as part of recognized syndromes. Cases with greater dysmorphological severity of cleft lip with or without cleft palate were more likely to include malformations of other systems. |
An expanded public health role for birth defects surveillance
Correa A , Kirby RS . Birth Defects Res A Clin Mol Teratol 2010 88 (12) 1004-7 Through the early 20th century, the human uterus was thought to protect the developing fetus from maternal infections and environmental exposures. However, in the 1940s the first case reports of maternal rubella infection being linked to birth defects appeared in the literature, and, in the early 1960s, it was understood that maternal use of thalidomide caused an epidemic of limb deficiencies. These sentinel events led to the realization that maternal infections and other environmental factors could cause birth defects. This realization, in turn, led to the establishment of birth defects surveillance systems in the United States and other countries. | Public health surveillance is defined as the ongoing, systematic collection, analysis, interpretation, and dissemination of data regarding a health-related event for use in public health action to reduce morbidity and mortality and to improve health in the population (Thacker and Berkelman, 1992; CDC, 2001). Birth defects surveillance data have been used for public health action, program planning and evaluation, and formulating research hypotheses. Some examples of the types of public health action for which birth defects surveillance data have been used include the following: | Guiding action for issues of public health importance or concern. Birth defects surveillance data have been useful in evaluating community concerns about specific environmental exposures (e.g., water fluoridation, airport noise, air pollution) and birth defects (Erickson et al., 1976; Edmonds et al., 1979; Strickland et al., 2009), as well as for addressing concerns about clusters of birth defects possibly associated with less well-defined environmental factors (Calvert et al., 2007; Kucik et al., 2008). | Quantifying the burden of disease. Birth defects surveillance data have been useful in documenting the prevalence of major birth defects in the population (Correa et al., 2007; Rynn et al., 2008), the birth prevalence for specific defects such as Down syndrome, neural tube defects, and heart defects (Siffel et al., 2004; Canfield et al., 2006; Reller et al., 2008), as well as the prevalence of spina bifida and Down syndrome among children and adolescents (Shin et al., 2008; Shin et al., 2009). | Identifying populations at risk and/or health disparities. Birth defects surveillance data have been useful in identifying a higher prevalence of neural tube defects among Hispanics as compared to non-Hispanic whites in the United States (Kirby et al., 2000; Canfield et al., 2006). Similarly, linkages of birth defects surveillance data with vital status data have been useful in identifying race/ethnic disparities in survival for several defects (Dott et al., 2003; Rasmussen et al., 2006; Yang et al., 2006). Such studies have stimulated more research into possible determinants of such disparities in prevalence and survival. | Monitoring trends in the prevalence of birth defects. Birth defects surveillance data have been important in documenting decreasing trends in the prevalence of congenital rubella in relation to declining prevalence of maternal rubella infections (Cochi et al., 1989), trends in prevalence of selected birth defects before and after folic acid fortification (Canfield et al., 2005; Botto et al., 2006), and trends in the prevalence of gastroschisis (Williams et al., 2005; Loane et al., 2007), hypospadias (Carmichael et al., 2003; Dolk et al., 2004; Nassar et al., 2007), and congenital heart defects (Botto et al., 2001). | Evaluating outcomes among children with birth defects. Birth defects surveillance data have been useful in population-based evaluations of whether children with birth defects have an increased prevalence of developmental disorders (Decoufle et al., 2001; Yazdy et al., 2008) and the survival experience of children with birth defects (Nembhard et al., 2001; Wong and Paulozzi, 2001; Cleves et al., 2003; Rasmussen et al., 2006; Copeland and Kirby, 2007; Fixler et al., 2010). | Guiding the planning, implementation, and evaluation of programs to prevent birth defects and adverse exposures. Birth defects surveillance data on the prevalence of neural tube defects and in the variation of such prevalence by race/ethnic groups in the population have been instrumental in the development, implementation, and evaluation of policies for folic acid fortification for the prevention of neural tube defects (Canfield et al., 2005; Botto et al., 2006; Bower, 2006). | Serving as case registries for epidemiologic research. Several birth defects surveillance systems have served as cases registries for epidemiologic studies, including studies of possible associations of birth defects with paternal Vietnam Veteran status (Erickson et al., 1984), maternal vitamin supplement use (Mulinare et al., 1988), diabetes (Correa et al., 2008), obesity (Watkins et al., 2003; Waller et al., 2007; Gilboa et al., 2010), smoking (Honein et al., 2007; Malik et al., 2008), assisted reproductive technologies (Bower and Hansen, 2005; Reefhuis et al., 2009), and certain medications (Reefhuis et al., 2006; Caton et al., 2009; Alwan et al., 2010). |
How valid are the rates of Down syndrome internationally? Findings from the International Clearinghouse for Birth Defects Surveillance and Research
Leoncini E , Botto LD , Cocchi G , Anneren G , Bower C , Halliday J , Amar E , Bakker MK , Bianca S , Canessa Tapia MA , Castilla EE , Csaky-Szunyogh M , Dastgiri S , Feldkamp ML , Gatt M , Hirahara F , Landau D , Lowry RB , Marengo L , McDonnell R , Mathew TM , Morgan M , Mutchinick OM , Pierini A , Poetzsch S , Ritvanen A , Scarano G , Siffel C , Sipek A , Szabova E , Tagliabue G , Vollset SE , Wertelecki W , Zhuchenko L , Mastroiacovo P . Am J Med Genet A 2010 152A (7) 1670-80 Rates of Down syndrome (DS) show considerable international variation, but a systematic assessment of this variation is lacking. The goal of this study was to develop and test a method to assess the validity of DS rates in surveillance programs, as an indicator of quality of ascertainment. The proposed method compares the observed number of cases with DS (livebirths plus elective pregnancy terminations, adjusted for spontaneous fetal losses that would have occurred if the pregnancy had been allowed to continue) in each single year of maternal age, with the expected number of cases based on the best-published data on rates by year of maternal age. To test this method we used data from birth years 2000 to 2005 from 32 surveillance programs of the International Clearinghouse for Birth Defects Surveillance and Research. We computed the adjusted observed versus expected ratio (aOE) of DS birth prevalence among women 25-44 years old. The aOE ratio was close to unity in 13 programs (the 95% confidence interval included 1), above 1 in 2 programs and below 1 in 18 programs (P < 0.05). These findings suggest that DS rates internationally can be evaluated simply and systematically, and underscores how adjusting for spontaneous fetal loss is crucial and feasible. The aOE ratio can help better interpret and compare the reported rates, measure the degree of under- or over-registration, and promote quality improvement in surveillance programs that will ultimately provide better data for research, service planning, and public health programs. |
Prevalence of spina bifida among children and adolescents in 10 regions in the United States
Shin M , Besser LM , Siffel C , Kucik JE , Shaw GM , Lu C , Correa A . Pediatrics 2010 126 (2) 274-9 OBJECTIVE: The goal was to estimate the number of children and adolescents, 0 to 19 years of age, living with spina bifida (SB) in the United States. METHODS: A retrospective study was conducted by using population-based, birth defect surveillance data from 10 US regions, with vital status ascertainment. Birth defect surveillance data were obtained from Arkansas, Georgia (5 central counties of metropolitan Atlanta), California (11 counties), Colorado, Iowa, New York (New York City excluded), North Carolina, Oklahoma, Texas, and Utah. We estimated the numbers of children 0 to 19 years of age who were living with SB in the 10 US regions in 2002, according to age group, race/ethnicity, and gender, and examined a long-term trend in the prevalence of SB among children 0 to 11 years of age in 1991-2002. RESULTS: The overall prevalence of SB among children and adolescents 0 to 19 years of age in the study regions was 3.1 cases per 10000 in 2002. The prevalence of SB among children was lower among male and non-Hispanic black children. CONCLUSIONS: The prevalence estimates of SB among children and adolescents varied according to region, race/ethnicity, and gender, which suggests possible variations in prevalence at birth and/or inequities in survival rates. Additional studies are warranted to elucidate the reasons for these variations and to derive prevalence estimates of SB among adults. |
Long-term survival of infants with atrioventricular septal defects
Miller A , Siffel C , Lu C , Riehle-Colarusso T , Frias JL , Correa A . J Pediatr 2010 156 (6) 994-1000 OBJECTIVE: To examine the variation in survival in infants with atrioventricular septal defects (AVSD) with demographic factors and clinical characteristics, including the presence of Down syndrome. STUDY DESIGN: We selected infants with all types of AVSD with Down syndrome (n = 177) and without Down syndrome (n = 161), born between Jan 1, 1979, and Dec 31, 2003 and identified through the Metropolitan Atlanta Congenital Defects Program (MACDP). Infants were classified by the complexity of their cardiac defects and presence of major non-cardiac malformations. Deaths (n = 111) were identified through 2004 with linkage with state vital records and the National Death Index. Kaplan-Meier survival probabilities and adjusted hazard ratios (HRs) were calculated in relation to demographic and clinical characteristics. RESULTS: Children with AVSD and Down syndrome had a similar overall survival probability (70%) as those without Down syndrome (69%). Mortality was higher in children with a complex AVSD (adjusted HR = 7.0; 95% CI, 3.1-15.5) and in children with ≥2 major non-cardiac malformations (adjusted HR = 3.4; 95% CI, 1.8-6.5) and was lower in children in the 1992 to 2003 birth cohort (adjusted HR = 0.6; 95% CI, 0.4-0.998). CONCLUSIONS: Down syndrome was not a prognostic factor. Our findings might be helpful in assessing the long-term prognosis of infants with AVSD. |
Survival of children with mosaic Down syndrome
Shin M , Siffel C , Correa A . Am J Med Genet A 2010 152A (3) 800-1 In contrast with the majority of children with Down syndrome (DS) that have a full trisomy 21 in every cell [Gardner and Sutherland, 2004; Sherman et al., 2007], children with trisomy 21 mosaicism (herein referred to as mosaic DS) exhibit considerable variation in the proportion of cells with trisomy 21, both as a whole and among tissues [Sherman et al., 2007; Ringman et al., 2008]. The clinical characteristics of children with mosaic DS are generally milder compared with those of children with non-mosaic DS, as reflected by a lower frequency of clinical diagnosis at birth for children with mosaic DS (37.5%) compared with non-mosaic DS (90–100%) [Devlin and Morrison, 2004a]. Whether this variability in phenotypes for children with mosaic DS translates into a higher survival experience than that reported for children with non-mosaic DS is unclear. | We obtained data on 6,300 cytogenetically confirmed livebirths with DS born during 1993–2003 from seven U.S. population-based birth defects registries and verified vital status through December 31, 2004 using medical records, state vital records, and the National Death Index. All registries used a 6-digit International Classification of Diseases, 9th Revision, Clinical Modification or the modified codes from the British Paediatric Association Classification of Diseases; however, the period of ascertainment varied among registries, from 1 to 6 years of age [National Birth Defects Prevention Network, 2008]. We estimated the survival probability among children with mosaic DS and compared survival rates among those with and those without major congenital heart defects (CHD) using the Kaplan–Meier method and the log-rank test. |
Prevalence of Down syndrome among children and adolescents in 10 regions of the United States
Shin M , Besser LM , Kucik JE , Lu C , Siffel C , Correa A , Congenital Anomaly Multistate Prevalence Survival (CAMPS) Collaborative . Pediatrics 2009 124 (6) 1565-1571 OBJECTIVE: We aimed to estimate the prevalence of Down syndrome (DS) among children and adolescents aged 0 to 19 years in 10 regions of the United States. METHODS: This study was a cross-sectional analysis of live-born infants with DS during 1979-2003 from 10 population-based birth defects registries in the United States. We estimated the prevalence of DS at birth and among children aged 0 to 19 years in each region and in all regions pooled. The prevalence of DS among children and adolescents was calculated overall and according to age group, race/ethnicity, infant gender, and presence of a major heart defect. RESULTS: From 1979 through 2003, the prevalence of DS at birth increased by 31.1%, from 9.0 to 11.8 per 10000 live births in 10 US regions. In 2002, the prevalence among children and adolescents (0-19 years old) was 10.3 per 10000. The prevalence of DS among children in a given age group consistently increased over time but decreased with age within a given birth cohort. The pooled prevalence of DS among children and adolescents was lower among non-Hispanic black individuals and other racial/ethnic groups compared with non-Hispanic white individuals; it was also lower among females than males. CONCLUSIONS: This study provides prevalence estimates of DS among children and adolescents from 10 US regions. These estimates varied according to region, race/ethnicity, and gender, suggesting possible variation in prevalence at birth or in survival rates on the basis of these characteristics. |
[Post vaccination rotavirus surveillance in Hungary, in 2007]
Laszlo B , Czellar E , Deak J , Juhasz A , Kovacs J , Konya J , Meszaros J , Meszner Z , Mihaly I , Molnar P , Nyul Z , Patri L , Puskas E , Schneider F , Siffel C , Toth A , Toth E , Szucs G , Banyai K . Orv Hetil 2009 150 (31) 1443-50 Vaccination is the main strategy to control severe dehydrating gastroenteritis caused by rotaviruses in early childhood. The availability of new generation rotavirus vaccines has led to an intensification of strain surveillance worldwide, in part, to gauge the impact of the possible vaccine-driven immune selection of wild-type rotavirus strains. In the present study, authors describe the strain prevalence data obtained in 2007, with the involvement of different regions of Hungary. Genomic RNA was extracted from rotavirus-positive stool samples collected mainly from children and then subjected to genotyping using multiplex RT-PCR assay. Type-specific primers targeted G1 to G4, G6, G8 to G10, and G12 VP7 specificities, and P[4], P[6], and P[8] to P[11] VP4 specificities were used. Out of 489 rotavirus-positive specimens, collected from 482 patients, 466 and 474 were successfully G and P typed, respectively, and both G and P type specificities could be assigned for 457 strains. Prevalence data showed the predominance of G4P[8] (31.5%) strains, followed by G1P[8] (28.3%), G2P[4] (19.3%), and G9P[8] (10.2%). Minority strains were G1P[4] (0.4%), G2P[8] (1.3%), G3P[9] (0.2%), G4P[6] (0.7%), G6P[9] (0.4%), G8P[8] (0.2%), G9P[4] (0.2%), G9P[6] (0.8%), and G12P[8] (0.4%). Mixed infections were found in 1.2% of the samples, while 4.9% remained partially or fully non-typified. Our data indicate that the antigen specificities of medically important rotavirus strains identified in this 1-year study are well represented in the vaccines available in the pharmaceutical private market in Hungary. Depending on the vaccination coverage achievable in the forthcoming years, the post-vaccination rotavirus strain surveillance may allow us to gain comprehensive information on the impact of rotavirus vaccines on the prevalence of circulating rotavirus strains. |
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