Birth Defects Research最新文献

{"title":"Perspectives on Implementing Virtual Control Groups in Developmental and Reproductive Toxicity Studies","authors":"L. David Wise,&nbsp;Alan M. Hoberman,&nbsp;Christopher J. Bowman,&nbsp;Elise M. Lewis","doi":"10.1002/bdr2.2479","DOIUrl":"https://doi.org/10.1002/bdr2.2479","url":null,"abstract":"<div>\u0000 \u0000 <p>The use of virtual control groups (VCGs) in nonclinical toxicology studies was first proposed in 2020 with the main purpose of reducing animal use while integrating historical control data (HCD) to enhance study interpretation. The use of VCGs has gained increasing attention as evidenced by an increasing number of publications that highlight implementation challenges. Laboratories that conduct harmonized studies with standardized procedures, consistent environmental conditions, and validated electronic databases are well-suited to implement VCGs in future nonclinical safety studies. We suggest that individual laboratories conducting rodent and rabbit developmental and reproductive toxicity studies should begin planning for VCG implementation. If possible, a harmonized approach to VCG implementation by multiple laboratories will lend credence to regulatory approval. We apply the six-step VCG implementation framework from Palazzi et al. to the routine GLP studies covered by international guidelines, which emphasize validation through retrospective and prospective trials. We discuss the risks and challenges to VCG implementation that have been previously presented. To address some of these concerns, a hybrid approach is proposed that combines a small concurrent control group (CCG) with multiple virtual control (VC) animals from the same test facility. The inclusion of a CCG addresses the need to monitor for disease and environmental changes and prevent depletion of HCD. Two approaches to the selection of VC animals are discussed. Given that developmental and reproductive toxicity studies use the most animals in nonclinical safety studies, we support the timely implementation of VCGs to significantly reduce these animal numbers.</p>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143905115","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}

{"title":"Racial and Ethnic Disparities in California's Use of Agricultural Pesticides","authors":"Caroline Cox,&nbsp;Jonathan K London","doi":"10.1002/bdr2.2480","DOIUrl":"https://doi.org/10.1002/bdr2.2480","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The objective of this study is to determine whether the current use of agricultural pesticides in California is unequally distributed with respect to race and ethnicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted the analysis using publicly available data from the California Department of Pesticide Regulation and the US Census Bureau. We used two relatively simple statistical techniques to conduct the analysis: concentration curves and linear regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We showed that agricultural pesticide use in California is not distributed equally with respect to racial and ethnic composition. Similar patterns held whether we looked at current data, data from past years, or individual pesticides of public health concern. Importantly for public health, the use of a group of pesticides that, according to California regulations, causes reproductive harm also was concentrated in areas with a lower percentage of non-Hispanic Whites. The percentage of the population that is Hispanic/Latinx is a strong statistical driver of these inequalities. The data also show similar patterns of inequity in pesticide use with respect to three socioeconomic factors: income, education level, and prevalence of agricultural employment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Policy and regulatory actions are needed to reduce these disparities and maintain California's leadership in environmental justice.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143909249","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}

{"title":"How Does Maternal Lipopolysaccharide Exposure Impact Prenatal Testicular Development in Rats, and Could α-Tocopherol Provide a Protective Effect? A Histological, Immunohistochemical and Biochemical Study","authors":"Shimaa Antar Fareed,&nbsp;Heba El-Sayed Mostafa,&nbsp;Yousif Mohamed Saleh,&nbsp;Yasmin Islam Magdi,&nbsp;Islam Mohamed Magdi Ammar","doi":"10.1002/bdr2.2469","DOIUrl":"https://doi.org/10.1002/bdr2.2469","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Lipopolysaccharides or endotoxins trigger proinflammatory cytokines and nitric oxide release, whereas α-tocopherol protects cells from oxidative damage. This study investigated the effects of maternal lipopolysaccharide exposure on prenatal testicular development in male rat offspring and assessed α-tocopherol's protective role.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Forty pregnant female rats were divided into four groups. Group I (control) included a negative control receiving normal saline and a positive control receiving 30 mg/kg of α-tocopherol intraperitoneally from the 3rd to 18th gestational day. Group II received 50 mg/kg of lipopolysaccharides intraperitoneally from the 13th to 17th gestational day, whereas Group III received both α-tocopherol and lipopolysaccharides at the same dosages. On the seventh day postpartum, fetuses were weighed, sexed, and dissected; sera from male fetuses were collected for biochemical analysis, and fetal testes were used for histology, immunohistochemistry, and morphometry.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Rats treated with lipopolysaccharide showed reduced body weight, testosterone, and luteinizing hormone levels, with histopathological changes, including thickened testicular capsules and abnormalities in the number, size, shape, and cellular components of seminiferous tubules. These adverse effects were improved by α-tocopherol supplementation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We concluded that lipopolysaccharide exposure during pregnancy impairs testicular development and steroidogenesis, which are ameliorated by α-tocopherol coadministration.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896961","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}

{"title":"Correction to “Cognitive, Behavioral and Educational Outcomes in Children Aged 5–11 Years With Spina Bifida in Northern Ireland”","authors":"","doi":"10.1002/bdr2.2478","DOIUrl":"https://doi.org/10.1002/bdr2.2478","url":null,"abstract":"<p>Parajuli, Y. G. and Sinclair, M. 2025. “Cognitive, Behavioral and Educational Outcomes in Children Aged 5–11 Years With Spina Bifida in Northern Ireland.” <i>Birth Defects Research</i> 117: e2434. https://doi.org/10.1002/bdr2.2434.</p><p>In the originally published article, the Acknowledgments section omitted some names. The correct Acknowledgments section is shown below.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-05-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2478","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143896962","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}

{"title":"Exome Sequencing to Identify Novel Susceptibility Genes for Nonsyndromic Split-Hand/Ft Malformation: A Report From the National Birth Defects Prevention Study","authors":"Tonia C. Carter,&nbsp;Denise M. Kay,&nbsp;Faith Pangilinan,&nbsp;Lynn M. Almli,&nbsp;Mary M. Jenkins,&nbsp;Elizabeth E. Blue,&nbsp;Pagna Sok,&nbsp;Janson J. White,&nbsp;Christopher M. Cunniff,&nbsp;A. J. Agopian,&nbsp;Michael J. Bamshad,&nbsp;Lorenzo D. Botto,&nbsp;Lawrence C. Brody,&nbsp;Muge Gucsavas-Calikoglu,&nbsp;Jessica X. Chong,&nbsp;Horacio Gomez-Acevedo,&nbsp;Philip J. Lupo,&nbsp;Cynthia A. Moore,&nbsp;Wendy N. Nembhard,&nbsp;Richard S. Olney,&nbsp;Andrew F. Olshan,&nbsp;Mohammed S. Orloff,&nbsp;Jennita Reefhuis,&nbsp;Paul A. Romitti,&nbsp;Gary M. Shaw,&nbsp;Martha M. Werler,&nbsp;Mahsa M. Yazdy,&nbsp;Marilyn L. Browne,&nbsp;Meredith M. Howley,&nbsp;University of Washington Center for Mendelian Genomics, NISC Comparative Sequencing Program, the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2472","DOIUrl":"https://doi.org/10.1002/bdr2.2472","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Split-hand/foot malformation (SHFM) is a rare, genetically heterogeneous, congenital limb defect. Some but not all associated genes are known; therefore, the aim was to identify genes underlying SHFM.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Buccal cell-derived DNA from 26 children with SHFM and their parents who participated in the National Birth Defects Prevention Study was exome sequenced. Family-based trio analyzes prioritized rare coding variants by inheritance patterns, predicted pathogenicity, and location within putative limb development genes. Copy-number variants in SHFM candidate genomic regions were also examined. Case–control analyzes compared coding variants between case children and 1191 controls (parents of children with non-limb birth defects). Variant validation was by Sanger sequencing or droplet digital polymerase chain reaction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>In family-based analyzes, the prioritized and validated variants (each in a single family) included likely damaging variants that were heterozygous and <i>de novo</i> in speckle type BTB/POZ protein (<i>SPOP</i>) and ubiquitin-like modifier activating enzyme 2 (<i>UBA2</i>), X-linked recessive in fibroblast growth factor 13 (<i>FGF13</i>) and RNA binding motif protein 10 (<i>RBM10</i>), and compound heterozygous in interleukin enhancer binding factor 3 (<i>ILF3</i>). Validation assays did not confirm predicted <i>de novo</i> copy-number gains at chromosomes 10q24 and 19p13.11. Case–control analyzes did not identify statistically significant associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Exome analysis nominated new susceptibility genes (<i>FGF13</i>, <i>ILF3</i>, <i>RBM10</i>, <i>SPOP</i>) and detected a variant in a known candidate gene (<i>UBA2</i>). Follow-up investigation is needed to ascertain damaging variants in these genes in additional cases with SHFM and evaluate the impact of the variants on gene expression, protein function, and limb development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143889015","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}

{"title":"Abstract Supplement","authors":"","doi":"10.1002/bdr2.2475","DOIUrl":"https://doi.org/10.1002/bdr2.2475","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 S1","pages":"S1-S100"},"PeriodicalIF":1.6,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143871852","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}

{"title":"Domestic Use of Solvents and Pesticides and the Risk of Hypospadias in Offspring: A Case–Control Study From Brittany, France","authors":"Flore-Anne Martin,&nbsp;Ronan Garlantezec,&nbsp;Cécile Chevrier,&nbsp;Adèle Bihannic,&nbsp;Patrick Pladys,&nbsp;Rémi Béranger,&nbsp;Florence Rouget","doi":"10.1002/bdr2.2476","DOIUrl":"https://doi.org/10.1002/bdr2.2476","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is a growing concern about the potential role of environmental exposure in congenital male anomalies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>We aimed to assess the association between the domestic use of products containing solvents or pesticides during pregnancy and the risk of hypospadias in the offspring.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We included newborns from the PENEW case–control study, which took place in Brittany, France, from October 2012 to December 2018. Newborns affected with hypospadias (<i>n</i> = 100) were matched with one to four controls (<i>n</i> = 283) according to the biological sex assigned at birth, center of birth, year, and season of birth. We assessed self-reported domestic exposure to solvents (cosmetics, house cleaning, and home renovation products) and pesticides (used indoors and outdoors) through a maternal questionnaire at birth. We performed multivariable conditional logistic regression, adjusting for potential confounders.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The self-reported use of indoor pesticides during pregnancy was associated with an increased risk of hypospadias in offspring (adjusted odds ratio [aOR] = 2.68, 95% CI = 1.5, 4.81), especially those against wood insects (aOR = 13.19, 95% CI = 1.11, 59.57), rodents (aOR = 4.61, 95% CI = 1.03, 20.7), and flying and crawling insects (aOR = 2.77, 95% CI = 1.46, 5.28). Other studies have shown that domestic exposure was not statistically significantly associated with a risk of hypospadias.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The use of indoor pesticides during pregnancy may be associated with a higher risk of hypospadias in offspring, especially those against flying and crawling insects. Further studies might be needed to identify specific molecules to target and confirm our results on a larger sample.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 5","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143871850","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}

{"title":"MotherToBaby and CDC: Partnering to Provide a Rapid and Personalized Response to COVID-19 Vaccine Inquiries During Pregnancy and Lactation","authors":"Kirstie Perrotta,&nbsp;Lorrie Harris-Sagaribay,&nbsp;Gretchen Bandoli","doi":"10.1002/bdr2.2477","DOIUrl":"https://doi.org/10.1002/bdr2.2477","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>When coronavirus disease 2019 (COVID-19) vaccines first became available, pregnancy and lactation data were lacking. This void was often filled by misinformation. Even as data about pregnancy outcomes following COVID-19 vaccination began to emerge, the public was often unsure how to interpret the information, and many pregnant women remained unclear on whether to get vaccinated. MotherToBaby and Centers for Disease Control and Prevention (CDC) quickly partnered to direct the public to MotherToBaby, a nationwide teratogen information service, for free and confidential discussions about COVID-19 vaccines in pregnancy and lactation. This paper describes the partnership between MotherToBaby and CDC and the resulting COVID-19 vaccine inquiries received.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Aggregate, deidentified data were extracted from a centralized database utilized by MotherToBaby to capture information about exposure inquiries. The data include exposure topics, caller characteristics, and specific questions about COVID-19 vaccination.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between March 1, 2021 and February 28, 2023, MotherToBaby answered 11,064 questions about COVID-19 vaccines. Most (68.5%) were related to vaccine safety, with common safety-related themes including perceived haste in vaccine development, hesitancy about mRNA technology, and concerns about infertility, miscarriage, and long-term effects on the child. Lessons learned include the essential role of partnerships to educate the public during emergencies, the importance of building staff capacity during nonemergency times, and the need for one-on-one conversations to counter vaccine misinformation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>During the COVID-19 pandemic, MotherToBaby met a critical need by providing individualized, evidence-based information to the public. During future public health emergencies, teratogen information services are uniquely suited to provide unbiased information about the risks and benefits of vaccines and other exposures.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865852","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}

{"title":"Using Residual Newborn Blood Spots to Investigate CpG Methylation in Relation to Air Pollution and Congenital Heart Defects","authors":"Thomas J. Luben,&nbsp;Kyle Roell,&nbsp;Cailee E. Harrington,&nbsp;Jeanette A. Stingone,&nbsp;Cavin K. Ward-Caviness,&nbsp;Tania A. Desrosiers,&nbsp;Rebecca C. Fry,&nbsp;Andrew F. Olshan","doi":"10.1002/bdr2.2473","DOIUrl":"https://doi.org/10.1002/bdr2.2473","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The prevalence of tetralogy of Fallot (TOF), a common congenital heart defect, has increased over the last two decades.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Genome-wide CpG methylation patterns were assessed and analyzed in relation to gestational air pollution exposure among 24 infants with TOF and 24 sex-matched control infants without a birth defect from a North Carolina population-based, case–control study of major structural birth defects (2006–2011). Air pollution exposure during obstetric weeks 3–8 was assigned based on self-reported residence. DNA was extracted from residual newborn blood spots, and DNA methylation levels were measured using the Illumina EPIC Array.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cases had higher exposure to both PM₂_.5 and O₃ compared to controls. No specific CpG loci were statistically significantly associated with TOF status or air pollution exposure; however, we observed associations between TOF case status and DNA methylation at specific genomic regions with genes enriched for functions in metabolism. Additionally, there were significant regions that displayed differential DNA methylation in relation to air pollution exposure within genes involved in apoptosis, necrosis, inflammation, and immune response pathways.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Generally, air pollution exposure and TOF were associated with differential DNA methylation in distinct genes. These results highlight suggestive links between the environment, epigenome, and TOF to be further investigated in larger studies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143865927","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}

{"title":"The Power and Importance of 25,000 Words","authors":"S. C. Fisher,&nbsp;W. N. Nembhard","doi":"10.1002/bdr2.2454","DOIUrl":"https://doi.org/10.1002/bdr2.2454","url":null,"abstract":"&lt;p&gt;Since 2000, the National Birth Defects Prevention Network (NBDPN), in collaboration with the U.S. National Center on Birth Defects and Developmental Disabilities at the Centers for Disease Control and Prevention, has published a special issue of &lt;i&gt;Birth Defects Research&lt;/i&gt; to highlight advances in birth defects surveillance data, methodology, and research applications. Conservatively, over the past 25 years, more than 350,000 words of this journal were dedicated to this purpose. These 350,000+ words are important; authors labored over them, reviewers critiqued them, and editors ultimately approved them. These words are also powerful; after being published, readers read and cited them, researchers developed hypotheses based on them, and policymakers crafted policy or changed public health practice based on them. Most importantly, those words represent the children, families, and communities that are included in surveillance systems and research projects, and they helped shape the programs designed to meet their needs. These families and their experiences are an integral part of the work presented here. And yet, their experiences—joys and sorrows from the birth or death of a child; heartbreak, fear, or anxiety from a diagnosis or surgical procedure; and frustration over yet one more extended hospital stay—can never be fully captured in the neat and orderly rows and columns filled with numbers in spreadsheets or databases. It is therefore researchers' responsibility to not just analyze data, but to represent people's stories when they translate those numbers into words. Words are powerful and important.&lt;/p&gt;&lt;p&gt;In this issue, Bascom and Agopian directly consider the power of words to tell stories about individuals with birth defects by reviewing the use of person-first language as opposed to identity-first language in papers published using NBDPN data between 2002 and 2024. The authors report that only 13% of published articles during this time period used person-first language when describing individuals with birth defects in epidemiologic studies. Although the use of this language has evolved over time, we can and should do better. This is not the first time the NBDPN special issue has highlighted the importance of word choice for the birth defects community. In our 2012 special issue, Mai et al. (&lt;span&gt;2012&lt;/span&gt;) explored public perception of birth defects terminology and reported that “birth defects,” although imperfect, is generally preferred over older terminology such as “congenital malformations” or “congenital anomalies.” More than a decade later, Bascom and Agopian's publication underscores the need to continue to practice introspection about how our word choices represent people affected by birth defects.&lt;/p&gt;&lt;p&gt;Also in this issue, we include original research articles about important issues for the birth defects field. Allred et al. (&lt;span&gt;2024&lt;/span&gt;) describe the prevalence and characteristics of children born with macrocephaly, an","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 4","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-04-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2454","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143845871","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}