Nataša Karas Kuželički, Alenka Šmid, Maša Vidmar Golja, Tina Kek, Andreja Eberlinc, Borut Geršak, Uroš Mazič, Irena Mlinarič-Raščan, Ksenija Geršak
Background
Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.
Methods
We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings.
Results
Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the FPGS gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate–methionine cycles.
Conclusions
Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate–methionine cycles, indicating polygenic and possibly multifactorial inheritance.
{"title":"Higher Incidence of Common Polymorphisms in the Genes of Folate and Methionine Cycles in Children With Orofacial Clefs and Congenital Heart Defects Compared to their Unaffected Siblings","authors":"Nataša Karas Kuželički, Alenka Šmid, Maša Vidmar Golja, Tina Kek, Andreja Eberlinc, Borut Geršak, Uroš Mazič, Irena Mlinarič-Raščan, Ksenija Geršak","doi":"10.1002/bdr2.2408","DOIUrl":"10.1002/bdr2.2408","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Uninterrupted folate metabolism plays a vital role in embryonic development, ensuring a supply of one-carbon-activated folate cofactors for essential processes. Folate deficiency has been implicated in the development of orofacial clefts (OFC) and congenital heart disease (CHD). Although both malformations have been extensively studied in lieu of folate deficiency, the results of corresponding studies are ambiguous due to the interplay of maternal and fetal genomes controlling folate metabolism in the developing fetus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used the innovative study design to compare affected and unaffected siblings from the same mother, thus minimizing the effect of the maternal genome. Thus, it might be possible to identify genetic markers of congenital malformations that pertain exclusively to the child. This study compared demographic and environmental factors between OFC or CHD-affected and unaffected pregnancies as well as the presence of polymorphisms in genes of folate metabolism between OFC or CHD-affected and unaffected siblings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Only the maternal fever in the first trimester was a risk factor for OFC, whereas the maternal advanced age, medication administration, and common polymorphism in the <i>FPGS</i> gene increased the risk of CHD formation. Both OFC and CHD formation were associated with a higher number of variant loci in genes of folate–methionine cycles.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Both OFC and CHD formation were associated with a higher number of mutated loci in genes of folate–methionine cycles, indicating polygenic and possibly multifactorial inheritance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2408","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142543605","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}
Ava D. Mandelbaum, Raphael C. Sun, Amanda J. H. Kim, Roya Sohaey, Melanie Hakar, Saharnaz Tavoosi, Lucy Ward, Monica Rincon, Allison J. Allen, Stephanie Dukhovny, Andrew H. Chon
Objective
The objective of this study is to evaluate outcomes of fetal sacrococcygeal teratoma (SCT) from an academic tertiary center.
Study Design
This is a retrospective study evaluating pregnancy and postnatal outcomes of fetal SCT management at a single institution between 2006 and 2023. Results are reported as median (range).
Results
Fourteen patients with fetal SCT were studied. Hydrops fetalis occurred in 2 (14.3%) cases. Pregnancy course included expectant management in 12 (85.7%) and palliative preterm induction in 1 patient (7.1%). Indications for delivering timing included fetal deterioration in 7 patients (50%), preeclampsia in 3 (21.4%), elective induction of delivery in 3 (21.4%), and preterm labor in 1 (7.1%). Delivery GA was 36.4 weeks (26.4–40.1 weeks), with 11 (78.5%) cesareans and 3 (21.4%) vaginal deliveries. There were 13 (92.9%) live births and 11 (78.6%) long-term survivors. Postnatal resection pathology demonstrated 7 (53.8%) mature, 3 (23.1%) immature, and 3 (23.1%) malignant SCTs. Of the 11 long-term survivors, 3 (27.3%) had teratoma recurrences, including 2 (18.2%) with metastatic disease requiring chemotherapy. Notable long-term complications involved gastrointestinal (n = 7, 63.6%), genitourinary (n = 4, 36.4%), and musculoskeletal (n = 2, 18.2%) systems.
Conclusion
SCT confers significant morbidity to both the pregnant patient and neonate. Multidisciplinary prenatal and postnatal care is needed to comprehensively manage this complex condition.
{"title":"Pregnancy and Long-Term Postnatal Outcomes of Congenital Sacrococcygeal Teratoma: A Single Institution's 18-Year Experience","authors":"Ava D. Mandelbaum, Raphael C. Sun, Amanda J. H. Kim, Roya Sohaey, Melanie Hakar, Saharnaz Tavoosi, Lucy Ward, Monica Rincon, Allison J. Allen, Stephanie Dukhovny, Andrew H. Chon","doi":"10.1002/bdr2.2405","DOIUrl":"https://doi.org/10.1002/bdr2.2405","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The objective of this study is to evaluate outcomes of fetal sacrococcygeal teratoma (SCT) from an academic tertiary center.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Study Design</h3>\u0000 \u0000 <p>This is a retrospective study evaluating pregnancy and postnatal outcomes of fetal SCT management at a single institution between 2006 and 2023. Results are reported as median (range).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Fourteen patients with fetal SCT were studied. Hydrops fetalis occurred in 2 (14.3%) cases. Pregnancy course included expectant management in 12 (85.7%) and palliative preterm induction in 1 patient (7.1%). Indications for delivering timing included fetal deterioration in 7 patients (50%), preeclampsia in 3 (21.4%), elective induction of delivery in 3 (21.4%), and preterm labor in 1 (7.1%). Delivery GA was 36.4 weeks (26.4–40.1 weeks), with 11 (78.5%) cesareans and 3 (21.4%) vaginal deliveries. There were 13 (92.9%) live births and 11 (78.6%) long-term survivors. Postnatal resection pathology demonstrated 7 (53.8%) mature, 3 (23.1%) immature, and 3 (23.1%) malignant SCTs. Of the 11 long-term survivors, 3 (27.3%) had teratoma recurrences, including 2 (18.2%) with metastatic disease requiring chemotherapy. Notable long-term complications involved gastrointestinal (<i>n</i> = 7, 63.6%), genitourinary (<i>n</i> = 4, 36.4%), and musculoskeletal (<i>n</i> = 2, 18.2%) systems.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>SCT confers significant morbidity to both the pregnant patient and neonate. Multidisciplinary prenatal and postnatal care is needed to comprehensively manage this complex condition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142451772","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}
Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan
Objective
N6-methyladenosine (m6A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m6A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).
Methods
The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m6A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.
Results
We identified that rs8078195 (A > C) in METTL16 was suggestively associated with the increased risk of NSOCs (OR = 1.32, p = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with METTL16 in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that METTL16 contributed to the development of NSOCs probably by regulating cell cycle process.
Conclusions
Rs8078195 in METTL16 was associated with the occurrence of NSOCs.
{"title":"Genetic Variants in METTL16 Affect the Risk of Non-Syndromic Orofacial Clefts","authors":"Xinze Xu, Xiaofeng Li, Minxuan Han, Changyue Xing, Guirong Zhu, Xing Cui, Lin Wang, Shu Lou, Yongchu Pan","doi":"10.1002/bdr2.2403","DOIUrl":"https://doi.org/10.1002/bdr2.2403","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>N6-methyladenosine (m<sup>6</sup>A) is the most prevalent modification of RNA in eukaryotes which is associated with many cellular processes and diseases. Here, our objective is to explore whether genetic variants in m<sup>6</sup>A modification genes are associated with the risk of non-syndrome orofacial clefts (NSOCs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The transmission disequilibrium test (TDT) was performed to calculate the association between single nucleotide polymorphisms (SNPs) in m<sup>6</sup>A modification genes and NSOCs risk in 944 case-parent trios. The function of SNP was predicted by HaploReg, RegulomeDB and histone enrichment data. The expression quantitative trait locus (eQTL) analysis was examined using Genotype-Tissue Expression (GTEx) and eQTLGen. The role of gene in the development of NSOCs was assessed with correlation and enrichment analysis based on gene expression data in mice craniofacial tissue and zebrafish embryo.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified that rs8078195 (A > C) in <i>METTL16</i> was suggestively associated with the increased risk of NSOCs (OR = 1.32, <i>p</i> = 1.80E − 03). The region surrounding rs8078195 was subjected to deoxyribonuclease hypersensitivity and enriched with multiple histone modifications. In addition, it had a significant eQTL effect with <i>METTL16</i> in skin tissue and human peripheral blood, which played an important role in NSOCs development. Bioinformatic analysis indicated that <i>METTL16</i> contributed to the development of NSOCs probably by regulating cell cycle process.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Rs8078195 in <i>METTL16</i> was associated with the occurrence of NSOCs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142439054","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}
María Alejandra Aguirre Martínez, Luisa Fernanda Cano Bautista, Mauricio Hernández-Carrillo, Armicson Felipe Solano Montero
Objective
To identify cardiovascular ultrasound predictors for brain anomalies in fetuses with heart disease.
Methods
A literature search was performed in the following databases: MEDLINE through OVID, EMBASE, Cochrane Registry Center for Controlled Trials (CENTRAL), and LILACS, from their inception until May 2023. Clinical studies, cross-sectional studies, case–control studies, cohorts, and systematic reviews were included. Data extraction was performed, and the risk of bias was assessed using the QUADAS-2 tool.
Results
Among 2705 studies evaluated, after filtering information, 10 articles were selected that met the inclusion criteria. These studies noted the following outcomes: a decrease in fetal head circumference, changes in brain maturation measured in days, decreased depth of brain fissures, and a decrease in total brain volume. The studies show a statistically significant correlation with the presence of the following cardiovascular predictors: low or mixed oxygen content in the ascending aorta (p < 0.001), retrograde flow in the aortic arch (p < 0.001), lower z values of the MCA-PI (p < 0.05), higher UA-PI z values (p < 0.01), and lower CPR (p < 0.05). In addition, lower values of left ventricular flow (p < 0.01), ductus arteriosus (p < 0.0001), and combined cardiac output index (p < 0.01) were reported.
Conclusions
This review describes the most relevant evidence correlating the effects of hemodynamic changes that lead to states of chronic hypoxia related to the aforementioned changes in the central nervous system.
目的 确定心血管超声预测心脏病胎儿脑异常的指标。 方法 在以下数据库中进行文献检索：MEDLINE through OVID、EMBASE、Cochrane Registry Center for Controlled Trials (CENTRAL) 和 LILACS。纳入了临床研究、横断面研究、病例对照研究、队列研究和系统综述。进行了数据提取，并使用 QUADAS-2 工具评估了偏倚风险。 结果 在评估的 2705 项研究中，经过信息筛选，选出了 10 篇符合纳入标准的文章。这些研究指出了以下结果：胎儿头围减小、以天数为单位的大脑成熟度变化、脑裂深度减小以及大脑总体积减小。这些研究显示，以下心血管预测因素与胎儿的存在有显著的统计学相关性：升主动脉氧含量低或混合（p < 0.001）、主动脉弓逆流（p < 0.001）、MCA-PI z 值低（p < 0.05）、UA-PI z 值高（p < 0.01）和心肺复苏率低（p < 0.05）。此外，左心室血流（p <0.01）、动脉导管（p <0.0001）和合并心输出量指数（p <0.01）的值也较低。 结论 本综述描述了最相关的证据，这些证据表明，导致慢性缺氧状态的血液动力学变化的影响与中枢神经系统的上述变化有关。
{"title":"Cardiovascular Ultrasound Predictors for Brain Alterations in Fetuses With Heart Disease: An Exploratory Review of the Literature","authors":"María Alejandra Aguirre Martínez, Luisa Fernanda Cano Bautista, Mauricio Hernández-Carrillo, Armicson Felipe Solano Montero","doi":"10.1002/bdr2.2402","DOIUrl":"https://doi.org/10.1002/bdr2.2402","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To identify cardiovascular ultrasound predictors for brain anomalies in fetuses with heart disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A literature search was performed in the following databases: MEDLINE through OVID, EMBASE, Cochrane Registry Center for Controlled Trials (CENTRAL), and LILACS, from their inception until May 2023. Clinical studies, cross-sectional studies, case–control studies, cohorts, and systematic reviews were included. Data extraction was performed, and the risk of bias was assessed using the QUADAS-2 tool.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 2705 studies evaluated, after filtering information, 10 articles were selected that met the inclusion criteria. These studies noted the following outcomes: a decrease in fetal head circumference, changes in brain maturation measured in days, decreased depth of brain fissures, and a decrease in total brain volume. The studies show a statistically significant correlation with the presence of the following cardiovascular predictors: low or mixed oxygen content in the ascending aorta (<i>p</i> < 0.001), retrograde flow in the aortic arch (<i>p</i> < 0.001), lower <i>z</i> values of the MCA-PI (<i>p</i> < 0.05), higher UA-PI <i>z</i> values (<i>p</i> < 0.01), and lower CPR (<i>p</i> < 0.05). In addition, lower values of left ventricular flow (<i>p</i> < 0.01), ductus arteriosus (<i>p</i> < 0.0001), and combined cardiac output index (<i>p</i> < 0.01) were reported.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This review describes the most relevant evidence correlating the effects of hemodynamic changes that lead to states of chronic hypoxia related to the aforementioned changes in the central nervous system.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142435537","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}
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}
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