Allison M. Peluso, Mohsen A. A. Farghaly, Hany Aly, Mohamed A. Mohamed
Background
Infants with Trisomy 21 are known to have increased incidence congenital anomalies including congenital heart diseases (CHD) and congenital gastrointestinal anomalies. It is not known if there are patterns of coexistence.
Objectives
To examine the coexistence of CHD with various gastrointestinal anomalies in infants with Trisomy 21.
Methods
We assessed a sample of infants with Trisomy 21 from the National Inpatient Sample (NIS), and its KID subversion, produced by the Healthcare Cost and Utilization Project for 2003–2015. We identified CHD using international classification of diseases version 9 (ICD9) and categorized them into four groups: left sided lesions, right sided lesions, conotruncal lesions, and shunt lesions. We identified small intestinal atresia and Hirschsprung disease with ICD9 codes.
Results
The sample included 81,561 newborn infants diagnosed with Trisomy 21; 45% of them had CHD; 4.7% had small intestinal atresia, and 1.6% had Hirschsprung disease. All subcategories of CHD were associated with increased incidence of both small intestinal atresia and Hirschsprung disease, p value < 0.05 compared to infants with Trisomy 21 who did not have CHD.
Conclusions
Among infants with Trisomy 21, the presence of CHD increased the odds of a concomitant congenital GI anomaly.
{"title":"Congenital Anomalies of the Gastrointestinal Tract in Conjunction of Congenital Heart Diseases in Infants With Trisomy 21","authors":"Allison M. Peluso, Mohsen A. A. Farghaly, Hany Aly, Mohamed A. Mohamed","doi":"10.1002/bdr2.2406","DOIUrl":"10.1002/bdr2.2406","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Infants with Trisomy 21 are known to have increased incidence congenital anomalies including congenital heart diseases (CHD) and congenital gastrointestinal anomalies. It is not known if there are patterns of coexistence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To examine the coexistence of CHD with various gastrointestinal anomalies in infants with Trisomy 21.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We assessed a sample of infants with Trisomy 21 from the National Inpatient Sample (NIS), and its KID subversion, produced by the Healthcare Cost and Utilization Project for 2003–2015. We identified CHD using international classification of diseases version 9 (ICD9) and categorized them into four groups: left sided lesions, right sided lesions, conotruncal lesions, and shunt lesions. We identified small intestinal atresia and Hirschsprung disease with ICD9 codes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The sample included 81,561 newborn infants diagnosed with Trisomy 21; 45% of them had CHD; 4.7% had small intestinal atresia, and 1.6% had Hirschsprung disease. All subcategories of CHD were associated with increased incidence of both small intestinal atresia and Hirschsprung disease, <i>p</i> value < 0.05 compared to infants with Trisomy 21 who did not have CHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Among infants with Trisomy 21, the presence of CHD increased the odds of a concomitant congenital GI anomaly.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2406","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142387845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Ethen, M. K., M. A. Canfield, P. de Forest, and J. Trevino. 2007. “Pilot Test of Prenatal Surveillance for Birth Defects in South Texas.” Birth Defects Research Part A: Clinical and Molecular Teratology 79: 788–791. https://doi.org/10.1002/bdra.20405.
In the originally published article, author Peter de Forest was inadvertently left off the author list. This has been corrected in the online version of the article.
We apologize for this error.
Ethen, M. K., M. A. Canfield, P. de Forest, and J. Trevino.2007."德克萨斯州南部出生缺陷产前监测试点测试"。出生缺陷研究 A 部分：临床和分子畸形学 79: 788-791。https://doi.org/10.1002/bdra.20405.In，在最初发表的文章中，作者 Peter de Forest 因疏忽而被排除在作者名单之外。我们对这一错误表示歉意。
{"title":"Correction to “Pilot Test of Prenatal Surveillance for Birth Defects in South Texas”","authors":"","doi":"10.1002/bdr2.2401","DOIUrl":"10.1002/bdr2.2401","url":null,"abstract":"<p>Ethen, M. K., M. A. Canfield, P. de Forest, and J. Trevino. 2007. “Pilot Test of Prenatal Surveillance for Birth Defects in South Texas.” <i>Birth Defects Research Part A: Clinical and Molecular Teratology</i> 79: 788–791. https://doi.org/10.1002/bdra.20405.</p><p>In the originally published article, author Peter de Forest was inadvertently left off the author list. This has been corrected in the online version of the article.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2401","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142307125","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
M. L. Feldkamp, E. Baum-Jones, E. Y. Enioutina, S. Krikov, K. Kamath
<div> <section> <h3> Background</h3> <p>Gastroschisis is a birth defect with the greatest risk among women <20 years of age.</p> </section> <section> <h3> Methods</h3> <p>Pregnant women attending the University of Utah's Maternal-Fetal Medicine Diagnostic Center between 2011 and 2017 for either their routine diagnostic ultrasound or referral were recruited (cases: pregnant women with fetal gastroschisis, <i>n</i> = 53 participated/57, 93%; controls: pregnant women without fetal abnormalities, <i>n</i> = 102 participated/120, 85%). A clinic coordinator consented and interviewed women and obtained a blood sample and prenatal medical records. We evaluated self-reported maternal characteristics, risk factors, and infections. To assess pathogen seropositivity we used Serimmune's Serum Epitope Repertoire Analysis validated 35 pathogen panels and <i>Chlamydia trachomatis</i> and compared seropositivity to self-report and prenatal medical record screening to assess sensitivity.</p> </section> <section> <h3> Results</h3> <p>Cases were more likely to report a younger age at sexual debut (<i>p</i> = <0.01), more sexual partners (<i>p</i> = 0.02), being unmarried (<i>p</i> < 0.01), changing partners between pregnancies (<i>p</i> = <0.01), smoking cigarettes (<0.01), and a recent sexually transmitted infection (STI) (<i>p</i> = 0.02). No differences were observed for self-report of illicit drug use or periconceptional urinary tract infections. Cases had a higher seropositivity for cytomegalovirus (<i>p</i> = 0.01). No differences were observed for herpes simplex I, II, or Epstein–Barr. Though based on small numbers, <i>C. trachomatis</i> seropositivity was highest in cases (17%) compared to controls (8.8%) with the highest proportion observed in case women <20 years of age (cases 33%; controls 0%). Any STI (self-report or seropositivity) was also highest among cases <20 years of age (cases 47%; controls 0%). Among <i>C. trachomatis</i> seropositive women, self-report and prenatal medical record sensitivity was 27.8% and 3%, respectively.</p> </section> <section> <h3> Conclusions</h3> <p>Cases were more likely to engage in behaviors that can increase their risk of exposure to sexually transmitted pathogens. Case women <20 years of age had the highest proportion of <i>C. trachomatis</i> seropositivity and any STI. Prenatal medical records and self-report were inadequate to identify a recent chlamydial infection whereas, the SERA assay is a novel approach for evaluating subclinical infections that may impact the developing embryo.</p>
{"title":"Association Between Self-Reported Infections and Seropositivity Among Pregnant Women With Gastroschisis: A Case Control Study, With Emphasis on Chlamydia trachomatis","authors":"M. L. Feldkamp, E. Baum-Jones, E. Y. Enioutina, S. Krikov, K. Kamath","doi":"10.1002/bdr2.2400","DOIUrl":"https://doi.org/10.1002/bdr2.2400","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Gastroschisis is a birth defect with the greatest risk among women <20 years of age.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Pregnant women attending the University of Utah's Maternal-Fetal Medicine Diagnostic Center between 2011 and 2017 for either their routine diagnostic ultrasound or referral were recruited (cases: pregnant women with fetal gastroschisis, <i>n</i> = 53 participated/57, 93%; controls: pregnant women without fetal abnormalities, <i>n</i> = 102 participated/120, 85%). A clinic coordinator consented and interviewed women and obtained a blood sample and prenatal medical records. We evaluated self-reported maternal characteristics, risk factors, and infections. To assess pathogen seropositivity we used Serimmune's Serum Epitope Repertoire Analysis validated 35 pathogen panels and <i>Chlamydia trachomatis</i> and compared seropositivity to self-report and prenatal medical record screening to assess sensitivity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cases were more likely to report a younger age at sexual debut (<i>p</i> = <0.01), more sexual partners (<i>p</i> = 0.02), being unmarried (<i>p</i> < 0.01), changing partners between pregnancies (<i>p</i> = <0.01), smoking cigarettes (<0.01), and a recent sexually transmitted infection (STI) (<i>p</i> = 0.02). No differences were observed for self-report of illicit drug use or periconceptional urinary tract infections. Cases had a higher seropositivity for cytomegalovirus (<i>p</i> = 0.01). No differences were observed for herpes simplex I, II, or Epstein–Barr. Though based on small numbers, <i>C. trachomatis</i> seropositivity was highest in cases (17%) compared to controls (8.8%) with the highest proportion observed in case women <20 years of age (cases 33%; controls 0%). Any STI (self-report or seropositivity) was also highest among cases <20 years of age (cases 47%; controls 0%). Among <i>C. trachomatis</i> seropositive women, self-report and prenatal medical record sensitivity was 27.8% and 3%, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Cases were more likely to engage in behaviors that can increase their risk of exposure to sexually transmitted pathogens. Case women <20 years of age had the highest proportion of <i>C. trachomatis</i> seropositivity and any STI. Prenatal medical records and self-report were inadequate to identify a recent chlamydial infection whereas, the SERA assay is a novel approach for evaluating subclinical infections that may impact the developing embryo.</p>\u0000 ","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2400","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142244561","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The paper analyzes opportunities for integrating Open access resources (Abstract Sifter, US EPA and NTP Toxicity Value and Toxicity Reference [ToxVal/ToxRefDB]) and New Approach Methodologies (NAM) integration into Community Engaged Research (CEnR).
Methods
CompTox Chemicals Dashboard and Integrated Chemical Environment with in vivo ToxVal/ToxRef and NAMs (in vitro) databases are presented in three case studies to show how these resources could be used in Pilot Projects involving Community Engaged Research (CEnR) from the University of California, Davis, Environmental Health Sciences Center.
Results
Case #1 developed a novel assay methodology for testing pesticide toxicity. Case #2 involved detection of water contaminants from wildfire ash and Case #3 involved contaminants on Tribal Lands. Abstract Sifter/ToxVal/ToxRefDB regulatory data and NAMs could be used to screen/prioritize risks from exposure to metals, PAHs and PFAS from wildfire ash leached into water and to investigate activities of environmental toxins (e.g., pesticides) on Tribal lands. Open access NAMs and computational tools can apply to detection of sensitive biological activities in potential or known adverse outcome pathways to predict points of departure (POD) for comparison with regulatory values for hazard identification. Open access Systematic Empirical Evaluation of Models or biomonitoring exposures are available for human subpopulations and can be used to determine bioactivity (POD) to exposure ratio to facilitate mitigation.
Conclusions
These resources help prioritize chemical toxicity and facilitate regulatory decisions and health protective policies that can aid stakeholders in deciding on needed research. Insights into exposure risks can aid environmental justice and health equity advocates.
{"title":"Community-Engaged Research and the Use of Open Access ToxVal/ToxRef In Vivo Databases and New Approach Methodologies (NAM) to Address Human Health Risks From Environmental Contaminants","authors":"Marilyn Silva, Shosha Capps, Jonathan K. London","doi":"10.1002/bdr2.2395","DOIUrl":"https://doi.org/10.1002/bdr2.2395","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The paper analyzes opportunities for integrating Open access resources (Abstract Sifter, US EPA and NTP Toxicity Value and Toxicity Reference [ToxVal/ToxRefDB]) and New Approach Methodologies (NAM) integration into Community Engaged Research (CEnR).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>CompTox Chemicals Dashboard and Integrated Chemical Environment with in vivo ToxVal/ToxRef and NAMs (in vitro) databases are presented in three case studies to show how these resources could be used in Pilot Projects involving Community Engaged Research (CEnR) from the University of California, Davis, Environmental Health Sciences Center.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Case #1 developed a novel assay methodology for testing pesticide toxicity. Case #2 involved detection of water contaminants from wildfire ash and Case #3 involved contaminants on Tribal Lands. Abstract Sifter/ToxVal/ToxRefDB regulatory data and NAMs could be used to screen/prioritize risks from exposure to metals, PAHs and PFAS from wildfire ash leached into water and to investigate activities of environmental toxins (e.g., pesticides) on Tribal lands. Open access NAMs and computational tools can apply to detection of sensitive biological activities in potential or known adverse outcome pathways to predict points of departure (POD) for comparison with regulatory values for hazard identification. Open access Systematic Empirical Evaluation of Models or biomonitoring exposures are available for human subpopulations and can be used to determine bioactivity (POD) to exposure ratio to facilitate mitigation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These resources help prioritize chemical toxicity and facilitate regulatory decisions and health protective policies that can aid stakeholders in deciding on needed research. Insights into exposure risks can aid environmental justice and health equity advocates.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142174197","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nina E. Forestieri, Andrew F. Olshan, Matthew E. Oster, Elizabeth C. Ailes, Michael P. Fundora, Sarah C. Fisher, Charles Shumate, Paul A. Romitti, Rebecca F. Liberman, Wendy N. Nembhard, Suzan L. Carmichael, Tania A. Desrosiers, The National Birth Defects Prevention Study
Background
Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and survival by CCHD severity (univentricular or biventricular function).
Methods
This analysis included 4380 infants with CCHDs (cases) born during 1999–2011 and enrolled in the National Birth Defects Prevention Study, a multisite, population-based case–control study of major birth defects. Cases were linked to state death files. Nonparametric Kaplan–Meier survival functions were used to estimate 1- and 5-year survival probabilities overall and by severity group (univentricular/biventricular) stratified by demographic and clinical exposure variables of interest. The log-rank test was used to determine whether stratified survival curves were equivalent. Survival and 95% confidence intervals (CIs) were also estimated using Cox proportional hazards modeling adjusted for maternal age, education, race/ethnicity, study site, and birth year.
Results
One- and five-year survival rates were 85.8% (CI 84.7–86.8) and 83.7% (CI 82.5–84.9), respectively. Univentricular 5-year survival was lower than biventricular case survival [65.3% (CI 61.7–68.5) vs. 89.0% (CI 87.8–90.1; p < 0.001)]. Clinical factors (e.g. preterm birth, low birthweight, and complex/multiple defects) were associated with lower survival in each severity group. Sociodemographic factors (non-Hispanic Black race/ethnicity, <high school education, smoking, and lower household income) were only associated with survival among biventricular cases.
Conclusions
Mortality among children with CCHDs occurred primarily in the first year of life. Survival was lower for those with univentricular defects, and social determinants of health were most important in predicting survival for those with biventricular defects.
{"title":"Survival of Children With Critical Congenital Heart Defects in the National Birth Defects Prevention Study","authors":"Nina E. Forestieri, Andrew F. Olshan, Matthew E. Oster, Elizabeth C. Ailes, Michael P. Fundora, Sarah C. Fisher, Charles Shumate, Paul A. Romitti, Rebecca F. Liberman, Wendy N. Nembhard, Suzan L. Carmichael, Tania A. Desrosiers, The National Birth Defects Prevention Study","doi":"10.1002/bdr2.2394","DOIUrl":"https://doi.org/10.1002/bdr2.2394","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Critical congenital heart defects (CCHDs) are associated with considerable morbidity and mortality. This study estimated survival of children with nonsyndromic CCHDs and evaluated relationships between exposures of interest and survival by CCHD severity (univentricular or biventricular function).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This analysis included 4380 infants with CCHDs (cases) born during 1999–2011 and enrolled in the National Birth Defects Prevention Study, a multisite, population-based case–control study of major birth defects. Cases were linked to state death files. Nonparametric Kaplan–Meier survival functions were used to estimate 1- and 5-year survival probabilities overall and by severity group (univentricular/biventricular) stratified by demographic and clinical exposure variables of interest. The log-rank test was used to determine whether stratified survival curves were equivalent. Survival and 95% confidence intervals (CIs) were also estimated using Cox proportional hazards modeling adjusted for maternal age, education, race/ethnicity, study site, and birth year.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One- and five-year survival rates were 85.8% (CI 84.7–86.8) and 83.7% (CI 82.5–84.9), respectively. Univentricular 5-year survival was lower than biventricular case survival [65.3% (CI 61.7–68.5) vs. 89.0% (CI 87.8–90.1; <i>p</i> < 0.001)]. Clinical factors (e.g. preterm birth, low birthweight, and complex/multiple defects) were associated with lower survival in each severity group. Sociodemographic factors (non-Hispanic Black race/ethnicity, <high school education, smoking, and lower household income) were only associated with survival among biventricular cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Mortality among children with CCHDs occurred primarily in the first year of life. Survival was lower for those with univentricular defects, and social determinants of health were most important in predicting survival for those with biventricular defects.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142170031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Meredith M. Howley, Eva Williford, Amanda M. St. Louis, Adrian M. Michalski, Marilyn L. Browne, Sarah C. Fisher
Background
The New York State Birth Defects Registry (BDR) has passive and active components. As part of statewide passive ascertainment, the BDR receives reports of International Classification of Diseases, Tenth Revision (ICD-10) codes and descriptive narratives on a wide range of birth defects. The BDR conducts enhanced active surveillance for selected birth defects in 14 counties, which includes medical record abstraction and clinician review. We sought to quantify agreement between the two surveillance approaches.
Methods
The analysis included live-born infants born with one of the 16 birth defects in 2018–2021 in the active surveillance counties (n = 1069 infants). We calculated positive predictive values (PPV) and 95% confidence intervals for each defect, defined as the percentage of cases confirmed in active surveillance among those in passive surveillance. Additionally, we calculated the percentage with each birth defect missed by passive surveillance.
Results
The PPV varied greatly by birth defect. The PPV was >90% for gastroschisis and cleft lip, but <70% for spina bifida, diaphragmatic hernia, truncus arteriosus, tricuspid atresia, hypoplastic left heart syndrome, coarctation of the aorta, and pulmonary atresia. The percentage missed by passive surveillance ranged from 2% for tetralogy of Fallot to 39% for tricuspid atresia.
Conclusions
Active surveillance is an important strategy for ruling out false positive case reports for certain birth defects that we assessed, but not all of them. Passive surveillance programs can use our findings to develop targeted strategies for improving data quality of specific birth defects using active surveillance methods, thus optimizing limited resources.
{"title":"A Comparison of Active and Passive Surveillance Strategies for Selected Birth Defects in New York","authors":"Meredith M. Howley, Eva Williford, Amanda M. St. Louis, Adrian M. Michalski, Marilyn L. Browne, Sarah C. Fisher","doi":"10.1002/bdr2.2399","DOIUrl":"10.1002/bdr2.2399","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The New York State Birth Defects Registry (BDR) has passive and active components. As part of statewide passive ascertainment, the BDR receives reports of International Classification of Diseases, Tenth Revision (ICD-10) codes and descriptive narratives on a wide range of birth defects. The BDR conducts enhanced active surveillance for selected birth defects in 14 counties, which includes medical record abstraction and clinician review. We sought to quantify agreement between the two surveillance approaches.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The analysis included live-born infants born with one of the 16 birth defects in 2018–2021 in the active surveillance counties (<i>n</i> = 1069 infants). We calculated positive predictive values (PPV) and 95% confidence intervals for each defect, defined as the percentage of cases confirmed in active surveillance among those in passive surveillance. Additionally, we calculated the percentage with each birth defect missed by passive surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The PPV varied greatly by birth defect. The PPV was >90% for gastroschisis and cleft lip, but <70% for spina bifida, diaphragmatic hernia, truncus arteriosus, tricuspid atresia, hypoplastic left heart syndrome, coarctation of the aorta, and pulmonary atresia. The percentage missed by passive surveillance ranged from 2% for tetralogy of Fallot to 39% for tricuspid atresia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Active surveillance is an important strategy for ruling out false positive case reports for certain birth defects that we assessed, but not all of them. Passive surveillance programs can use our findings to develop targeted strategies for improving data quality of specific birth defects using active surveillance methods, thus optimizing limited resources.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142139304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Infant mortality continues to be a significant problem for patients with congenital heart disease (CHD). Limited data exist on the recent trends of mortality in infants with CHD.
Methods
The CDC WONDER (Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research) was queried to identify deaths occurring within the United States with CHD listed as one of the causes of death between 1999 and 2020. Subsequently, trends were calculated using the Joinpoint regression program (version 4.9.1.0; National Cancer Institute).
Results
A total of 47,015 deaths occurred in infants due to CHD at the national level from the year 1999 to 2020. The overall proportional infant mortality (compared to all deaths) declined (47.3% to 37.1%, average annual percent change [AAPC]: −1.1 [95% CI −1.6 to −0.6, p < 0.001]). There was a significant decline in proportional mortality in both Black (45.3% to 34.3%, AAPC: −0.5 [−0.8 to −0.2, p = 0.002]) and White patients (55.6% to 48.6%, AAPC: −1.2 [−1.7 to −0.7, p = 0.001]), with a steeper decline among White than Black patients. A statistically significant decline in the proportional infant mortality in both non-Hispanic (43.3% to 33.0%, AAPC: −1.3% [95% CI −1.9 to −0.7, p < 0.001]) and Hispanic (67.6% to 57.7%, AAPC: −0.7 [95% CI −0.9 to −0.4, p < 0.001]) patients was observed, with a steeper decline among non-Hispanic infant population. The proportional infant mortality decreased in males (47.5% to 53.1%, AAPC: −1.4% [−1.9 to −0.9, p < 0.001]) and females (47.1% to 39.6%, AAPC: −0.9 [−1.9 to 0.0, p = 0.05]). A steady decline in for both females and males was noted.
Conclusion
Our study showed a significant decrease in CHD-related mortality rate in infants and age-adjusted mortality rate (AAMR) between 1999 and 2020. However, sex-based, racial/ethnic disparities were noted, with female, Black, and Hispanic patients showing a lesser decline than male, White, and non-Hispanic patients.
{"title":"Temporal Trends of Infant Mortality Secondary to Congenital Heart Disease: National CDC Cohort Analysis (1999–2020)","authors":"Muchi Ditah Chobufo, Shafaqat Ali, Amro Taha, Sanchit Duhan, Neel Patel, Karthik Gonuguntla, Dipesh Ludhwani, Harshith Thyagaturu, Bijeta Keisham, Ayesha Shaik, Anas Alharbi, Yasar Sattar, Mamas A. Mamas, Utkarsh Kohli, Sudarshan Balla","doi":"10.1002/bdr2.2398","DOIUrl":"10.1002/bdr2.2398","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Infant mortality continues to be a significant problem for patients with congenital heart disease (CHD). Limited data exist on the recent trends of mortality in infants with CHD.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The CDC WONDER (Centers for Disease Control and Prevention Wide-Ranging Online Data for Epidemiologic Research) was queried to identify deaths occurring within the United States with CHD listed as one of the causes of death between 1999 and 2020. Subsequently, trends were calculated using the Joinpoint regression program (version 4.9.1.0; National Cancer Institute).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 47,015 deaths occurred in infants due to CHD at the national level from the year 1999 to 2020. The overall proportional infant mortality (compared to all deaths) declined (47.3% to 37.1%, average annual percent change [AAPC]: −1.1 [95% CI −1.6 to −0.6, <i>p</i> < 0.001]). There was a significant decline in proportional mortality in both Black (45.3% to 34.3%, AAPC: −0.5 [−0.8 to −0.2, <i>p</i> = 0.002]) and White patients (55.6% to 48.6%, AAPC: −1.2 [−1.7 to −0.7, <i>p</i> = 0.001]), with a steeper decline among White than Black patients. A statistically significant decline in the proportional infant mortality in both non-Hispanic (43.3% to 33.0%, AAPC: −1.3% [95% CI −1.9 to −0.7, <i>p</i> < 0.001]) and Hispanic (67.6% to 57.7%, AAPC: −0.7 [95% CI −0.9 to −0.4, <i>p</i> < 0.001]) patients was observed, with a steeper decline among non-Hispanic infant population. The proportional infant mortality decreased in males (47.5% to 53.1%, AAPC: −1.4% [−1.9 to −0.9, <i>p</i> < 0.001]) and females (47.1% to 39.6%, AAPC: −0.9 [−1.9 to 0.0, <i>p</i> = 0.05]). A steady decline in for both females and males was noted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our study showed a significant decrease in CHD-related mortality rate in infants and age-adjusted mortality rate (AAMR) between 1999 and 2020. However, sex-based, racial/ethnic disparities were noted, with female, Black, and Hispanic patients showing a lesser decline than male, White, and non-Hispanic patients.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142104278","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Adrian M. Michalski, Thomas J. Luben, Ibrahim Zaganjor, Anthony Rhoads, Paul A. Romitti, Kristin M. Conway, Peter H. Langlois, Marcia L. Feldkamp, Wendy N. Nembhard, Jennita Reefhuis, Mahsa M. Yazdy, Angela E. Lin, Tania A. Desrosiers, Adrienne T. Hoyt, Marilyn L. Browne, The National Birth Defects Prevention Study
Background
The use of chlorine to treat drinking water produces disinfection by-products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies.
Methods
Using National Birth Defects Prevention Study data, we linked geocoded residential addresses to public water supply measurement data for DBPs. Self-reported water consumption and filtration methods were used to estimate maternal ingestion of DBPs. We estimated adjusted odds ratios and 95% confidence intervals using logistic regression controlling for maternal age, education, body mass index (BMI), race/ethnicity, and study site to examine associations between CHDs and both household DBP level and estimated ingestion of DBPs.
Results
Household DBP exposure was assessed for 2717 participants (1495 cases and 1222 controls). We observed a broad range of positive, null, and negative estimates across eight specific CHDs and two summary exposures (trihalomethanes and haloacetic acids) plus nine individual DBP species. Examining ingestion exposure among 2488 participants (1347 cases, 1141 controls) produced similarly inconsistent results.
Conclusions
Assessing both household DBP level and estimated ingestion of DBPs, we did not find strong evidence of an association between CHDs and DBPs. Despite a large study population, DBP measurements were available for less than half of participant addresses, limiting study power.
{"title":"Maternal Exposure to Tap Water Disinfection By-Products and Risk of Selected Congenital Heart Defects","authors":"Adrian M. Michalski, Thomas J. Luben, Ibrahim Zaganjor, Anthony Rhoads, Paul A. Romitti, Kristin M. Conway, Peter H. Langlois, Marcia L. Feldkamp, Wendy N. Nembhard, Jennita Reefhuis, Mahsa M. Yazdy, Angela E. Lin, Tania A. Desrosiers, Adrienne T. Hoyt, Marilyn L. Browne, The National Birth Defects Prevention Study","doi":"10.1002/bdr2.2391","DOIUrl":"https://doi.org/10.1002/bdr2.2391","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The use of chlorine to treat drinking water produces disinfection by-products (DBPs), which have been associated with congenital heart defects (CHDs) in some studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using National Birth Defects Prevention Study data, we linked geocoded residential addresses to public water supply measurement data for DBPs. Self-reported water consumption and filtration methods were used to estimate maternal ingestion of DBPs. We estimated adjusted odds ratios and 95% confidence intervals using logistic regression controlling for maternal age, education, body mass index (BMI), race/ethnicity, and study site to examine associations between CHDs and both household DBP level and estimated ingestion of DBPs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Household DBP exposure was assessed for 2717 participants (1495 cases and 1222 controls). We observed a broad range of positive, null, and negative estimates across eight specific CHDs and two summary exposures (trihalomethanes and haloacetic acids) plus nine individual DBP species. Examining ingestion exposure among 2488 participants (1347 cases, 1141 controls) produced similarly inconsistent results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Assessing both household DBP level and estimated ingestion of DBPs, we did not find strong evidence of an association between CHDs and DBPs. Despite a large study population, DBP measurements were available for less than half of participant addresses, limiting study power.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142100132","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Tim A. Bruckner, Nhung T. H. Trinh, Nathalie Lelong, Kaveh Madani, Rémy Slama, Joanne Given, Babak Khoshnood
Background
Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs.
Methods
We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as “exposed” to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression.
Findings
We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings.
Interpretation
Evidence from the “natural experiment” of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.
{"title":"Climate Change and Congenital Anomalies: A Population-Based Study of the Effect of Prolonged Extreme Heat Exposure on the Risk of Neural Tube Defects in France","authors":"Tim A. Bruckner, Nhung T. H. Trinh, Nathalie Lelong, Kaveh Madani, Rémy Slama, Joanne Given, Babak Khoshnood","doi":"10.1002/bdr2.2397","DOIUrl":"https://doi.org/10.1002/bdr2.2397","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Exposure to long-lasting extreme ambient temperatures in the periconceptional or early pregnancy period might increase the risk of neural tube defects (NTDs). We tested whether prolonged severe heat exposure as experienced during the 2003 extreme heatwave in France, affected the risk of NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrieved NTD cases spanning from January 1994 to December 2018 from the Paris Registry of Congenital Malformations. The 2003 heatwave was characterized by the long duration and high intensity of nine consecutive days with temperatures ≥35°C. We classified monthly conceptions occurring in August 2003 as “exposed” to prolonged extreme heat around conception (i.e., periconceptional period). We assessed whether the risk of NTDs among cohorts exposed to the prolonged severe heatwave of 2003 in the periconceptional period differed from expected values using Poisson/negative binomial regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Findings</h3>\u0000 \u0000 <p>We identified 1272 NTD cases from January 1994 to December 2018, yielding a monthly mean count of 4.24. Ten NTD cases occurred among births conceived in August 2003. The risk of NTD was increased in the cohort with periconceptional exposure to the August 2003 heatwave (relative risk = 2.14, 95% confidence interval: 1.46 to 3.13), compared to non-exposed cohorts. Sensitivity analyses excluding July and September months or restricting to summer months yielded consistent findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Interpretation</h3>\u0000 \u0000 <p>Evidence from the “natural experiment” of an extreme climate event suggests an elevated risk of NTDs following exposure to prolonged extreme heat during the periconceptional period.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-08-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2397","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142100463","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nan Huang, Hegan Zhang, Zhengping Huang, Xiaoxia Wu, Na Zhang, Yuying Jiang, Chunnuan Chen, Jianlong Zhuang
Background
Causative mutations of PBX1 are associated with congenital abnormalities of the kidney and urinary tract (CAKUT), often accompanied by hearing loss, abnormal ear morphology, or developmental delay. The aim of the present investigation was to introduce a novel variant in the PBX1 gene identified in a Chinese family, leading to recurrent neonatal mortality.
Methods
A pregnant woman (gravida 5, para 0), who had experienced recurrent neonatal deaths, sought genetic etiology diagnosis. Whole exome sequencing (WES) was conducted to identify sequence variants and copy number variants in the fetus presenting with posterior nuchal cystic hygroma and fetal hydrops.
Results
A novel NM_002585.4:c.694G>C(p.D232H) in PBX1 was identified in the fetus through trio whole exome sequencing (WES), revealing a paternal mosaic PBX1 variant in blood at 11.54% (6/52 variants reads). Subsequent parental Sanger sequencing confirmed the variant detected by WES. Ultimately, the variant was classified as likely pathogenic, leading the family to elect pregnancy termination at 17 weeks gestation.
Conclusion
The novel variant in the PBX1 gene appears to be a significant factor contributing to recurrent neonatal deaths in the Chinese family. Such findings expand the spectrum of PBX1 gene variants and provide valuable perinatal guidance for diagnosing fetuses with PBX1 mutations.
{"title":"Whole Exome Sequencing Revealing a Novel PBX1 Gene Variant in a Chinese Family Causing Recurrent Neonatal Death","authors":"Nan Huang, Hegan Zhang, Zhengping Huang, Xiaoxia Wu, Na Zhang, Yuying Jiang, Chunnuan Chen, Jianlong Zhuang","doi":"10.1002/bdr2.2396","DOIUrl":"10.1002/bdr2.2396","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Causative mutations of <i>PBX1</i> are associated with congenital abnormalities of the kidney and urinary tract (CAKUT), often accompanied by hearing loss, abnormal ear morphology, or developmental delay. The aim of the present investigation was to introduce a novel variant in the <i>PBX1</i> gene identified in a Chinese family, leading to recurrent neonatal mortality.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A pregnant woman (gravida 5, para 0), who had experienced recurrent neonatal deaths, sought genetic etiology diagnosis. Whole exome sequencing (WES) was conducted to identify sequence variants and copy number variants in the fetus presenting with posterior nuchal cystic hygroma and fetal hydrops.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A novel NM_002585.4:c.694G>C(p.D232H) in <i>PBX1</i> was identified in the fetus through trio whole exome sequencing (WES), revealing a paternal mosaic <i>PBX1</i> variant in blood at 11.54% (6/52 variants reads). Subsequent parental Sanger sequencing confirmed the variant detected by WES. Ultimately, the variant was classified as likely pathogenic, leading the family to elect pregnancy termination at 17 weeks gestation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The novel variant in the <i>PBX1</i> gene appears to be a significant factor contributing to recurrent neonatal deaths in the Chinese family. Such findings expand the spectrum of <i>PBX1</i> gene variants and provide valuable perinatal guidance for diagnosing fetuses with <i>PBX1</i> mutations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 8","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142072028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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