Birth Defects Research最新文献

{"title":"Subdivided Historical Data to Assess Replicability of the Rat Embryo-Fetal Developmental Toxicity Study","authors":"L. David Wise","doi":"10.1002/bdr2.2461","DOIUrl":"https://doi.org/10.1002/bdr2.2461","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>A key aspect of scientific reliability includes replicability, that is, obtaining consistent results when an experiment is repeated. In embryo-fetal developmental toxicity (EFDT) studies, replicability can be assessed using in vitro models, targeted in vivo studies, and/or the second species study. This work assesses the replicability of whole-animal studies using historic rat data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data for two endpoints from five full studies were downloaded from the National Toxicology Program (NTP) website. Each full group was divided into two replicate sets (based on odd/even and top/bottom animal order) to evaluate within-study replicability. Analyses included summary statistics, scatter plots, a modified Levene's test for homogeneity of variances, and Cohen's <i>d</i> to assess effect sizes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Replicate means deviated from the original study by only 0.4%–3.7% and differed by ≤ 7% between replicates (with differences &lt; 5% in 87% of groups). Coefficients of variation (CV%) were generally consistent across subgroups, with few above 10%. Variance testing revealed significant differences in two of the five studies, and one study exhibited opposite fetal weight effects in the odd/even subgroup only. Evaluations of adjusted maternal weight gain were comparable across subgroups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The observed 5%–7% differences between these idealized replicates may represent the lower bound for acceptable variability when merging replicate data sets. This work lays the groundwork for more robust evaluations of replicability in EFDT studies and may inform future regulatory guidance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143581818","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":"Machine Learning and Natural Language Processing to Improve Classification of Atrial Septal Defects in Electronic Health Records","authors":"Yuting Guo,&nbsp;Haoming Shi,&nbsp;Wendy M. Book,&nbsp;Lindsey Carrie Ivey,&nbsp;Fred H. Rodriguez III,&nbsp;Reza Sameni,&nbsp;Cheryl Raskind-Hood,&nbsp;Chad Robichaux,&nbsp;Karrie F. Downing,&nbsp;Abeed Sarker","doi":"10.1002/bdr2.2451","DOIUrl":"https://doi.org/10.1002/bdr2.2451","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>International Classification of Disease (ICD) codes can accurately identify patients with certain congenital heart defects (CHDs). In ICD-defined CHD data sets, the code for secundum atrial septal defect (ASD) is the most common, but it has a low positive predictive value for CHD, potentially resulting in the drawing of erroneous conclusions from such data sets. Methods with reduced false positive rates for CHD among individuals captured with the ASD ICD code are needed for public health surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We propose a two-level classification system, which includes a CHD and an ASD classification model, to categorize cases with an ASD ICD code into three groups: ASD, other CHD, or no CHD (including patent foramen ovale). In the proposed approach, a machine learning model that leverages structured data is combined with a text classification system. We compare performances for three text classification strategies: support vector machines (SVMs) using text-based features, a robustly optimized Transformer-based model (RoBERTa), and a scalable tree boosting system using non-text-based features (XGBoost).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Using SVM for both CHD and ASD resulted in the best performance for the ASD and no CHD group, achieving <i>F</i>₁ scores of 0.53 (±0.05) and 0.78 (±0.02), respectively. XGBoost for CHD and SVM for ASD classification performed best for the other CHD group (<i>F</i>₁ score: 0.39 [±0.03]).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study demonstrates that it is feasible to use patients' clinical notes and machine learning to perform more fine-grained classification compared to ICD codes, particularly with higher PPV for CHD. The proposed approach can improve CHD surveillance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143535832","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":"Development of a Thoracoscopic Model for Birth Defect Esophageal Atresia and Tracheoesophageal Fistula Using Fresh Sheep Tissues","authors":"Mustafa Azizoglu,&nbsp;Mehmet Hanifi Okur","doi":"10.1002/bdr2.2458","DOIUrl":"https://doi.org/10.1002/bdr2.2458","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This study aimed to develop an esophageal atresia (EA) model using fresh sheep esophagus, trachea, and lungs to simulate a realistic thoracoscopic surgical environment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A thoracoscopic trainer box was used with fresh sheep tissues (esophagus, trachea, and lungs) to create an EA and tracheoesophageal fistula (TEF) model. The distal esophagus was anastomosed to the trachea, and a bicycle pump was integrated to simulate lung function. Additional components, such as a simulated azygos vein and parietal pleura, enhanced the model's realism for surgical training.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The developed EA-TEF model was created in six steps, including pleural dissection, azygos vein control, TEF division, and esophageal anastomosis. The procedure used a thoracoscopic trainer box, sheep tissues, and standard instruments. A bicycle pump simulated lung function, and careful techniques were employed for vein ligation and esophageal anastomosis. After the posterior wall was sutured, an 8 Fr feeding tube was inserted. The total cost of the model was $260, with reusable equipment and a $10 recurring cost for sheep tissues.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study successfully developed a cost-effective and anatomically accurate thoracoscopic model for EA and TEF repair using fresh sheep tissue.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143497326","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":"Educational Attainment and Employment Status of Adults Living With Congenital Heart Disease in the United States, CH STRONG 2016–2019","authors":"Karrie F. Downing,&nbsp;Anthony Goudie,&nbsp;Wendy N. Nembhard,&nbsp;Jennifer G. Andrews,&nbsp;R. Thomas Collins,&nbsp;Matthew E. Oster,&nbsp;Argelia Benavides,&nbsp;Mir M. Ali,&nbsp;Sherry L. Farr","doi":"10.1002/bdr2.2452","DOIUrl":"https://doi.org/10.1002/bdr2.2452","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Our objective was to characterize the education and employment history of young adults with congenital heart defects (CHD) living in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The 2016–2019 Congenital Heart Survey To Recognize Outcomes, Needs, and well-beinG collected data from young adults (ages 19–38) with CHD identified from active birth defect in Arkansas, Arizona, and Atlanta, Georgia. Educational attainment, employment history, and special education between kindergarten and 12th grade were self-/proxy-reported. Respondent percentages were standardized to the eligible population by CHD severity, birth year, site, sex, and maternal race/ethnicity and compared by CHD severity using <i>p</i> values from <i>Z</i>-scores. Log-binomial prevalence ratios (aPRs) assessed associations between respondent characteristics and outcomes, adjusting for CHD severity, age group, sex, race/ethnicity, and site. Employment models also adjusted for education. Point estimates were compared to the 2018 American Community Survey (ACS) 5-year general population estimates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 1438 respondents, 28.3% attained ≥ bachelor's degree and 22.1% were unemployed for ≥ 12 months. Estimates were comparable by CHD severity (aPRs ~1.0) and similar to general population estimates (in ACS, 21% attained ≥ bachelor's degree and 26% were unemployed). About 25.3% of adults with CHD received special education, more commonly adults with severe (32.9%) than nonsevere CHD (23.5%, <i>p</i> = 0.01).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Among young adults with CHD, educational attainment and employment did not substantially differ by CHD severity or from general population rates. One in four used special education between kindergarten and 12th grade. Clinical guidelines recommend ongoing educational and vocational support to individuals with CHD as needed so this population continues to thrive.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143481540","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":"Vaccines in Pregnancy: An Update on Recommendations From CDC's Advisory Committee on Immunization Practices","authors":"Sonja A. Rasmussen,&nbsp;Jiyoung Kim,&nbsp;Denise J. Jamieson","doi":"10.1002/bdr2.2459","DOIUrl":"https://doi.org/10.1002/bdr2.2459","url":null,"abstract":"<div>\u0000 \u0000 <p>Vaccinations in pregnancy are an essential part of prenatal care and play a critical role in protecting both pregnant persons and their infants from certain infectious diseases. In the United States, recommendations for vaccines are made through a comprehensive review of currently available scientific literature, including clinical trials and post-marketing surveillance data, by the Advisory Committee on Immunization Practices (ACIP). The ACIP is an advisory committee to the US Centers for Disease Control and Prevention (CDC), comprised of medical and public health experts who develop evidence-based recommendations and guidelines for vaccinations, including for pregnant persons. The ACIP has several work groups that review scientific evidence on an ongoing basis, and full-committee public meetings are held at least three times a year. As more data regarding the safety and efficacy of vaccines in pregnancy become available, these recommendations continue to evolve. To develop these recommendations, the ACIP carefully considers the risks of exposure to infectious agents against the potential risks of vaccination. We review here current ACIP recommendations for vaccinations and their use in pregnant persons. Recommendations are divided into four categories: vaccines recommended during pregnancy, vaccines recommended during pregnancy under certain circumstances, vaccines not recommended or contraindicated during pregnancy, and vaccines without specific ACIP recommendations. To ensure optimal care during pregnancy, healthcare providers who care for pregnant persons need to be familiar with these recommendations.</p>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143481539","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":"Case–Control Study of Congenital Anomalies: Study Methods and Nonresponse Bias Assessment","authors":"Amanda Eng,&nbsp;Andrea 't Mannetje,&nbsp;Lis Ellison-Loschmann,&nbsp;Barry Borman,&nbsp;Soo Cheng,&nbsp;Deborah A. Lawlor,&nbsp;Jeroen Douwes,&nbsp;Neil Pearce","doi":"10.1002/bdr2.2457","DOIUrl":"https://doi.org/10.1002/bdr2.2457","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>To describe the methods of a congenital anomalies case–control study conducted in New Zealand, discuss the encountered methodological difficulties, and evaluate the potential for nonresponse bias.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The potential cases (<i>n</i> = 2710) were New Zealand live births in 2007–2009 randomly selected from the New Zealand Congenital Anomalies Registry. The potential controls (<i>n</i> = 2989) included live births identified from the Maternity and Newborn Information System, frequency matched to cases by the child's year of birth and sex. Mothers were invited to complete an interview covering demographic, lifestyle, and environmental factors. Response probabilities for case and control mothers were evaluated in relation to maternal age, deprivation, occupation, and ethnicity, available from the Electoral Roll, and inverse probability weights (IPWs) for participation were calculated. Odds ratios (ORs) for key demographic and selected risk factors were estimated through unconditional logistic regression, with and without IPW.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 652 (24%) of case mothers and 505 (17%) of control mothers completed the interview. Younger and more deprived mothers were underrepresented among the participants, particularly for controls, resulting in inflated ORs of associations with congenital anomalies for younger age, Māori ethnicity, deprivation, and risk factors under study, such as blue-collar occupations and smoking, indicative of nonresponse bias. Nonresponse bias was minimized through IPW, resulting in ORs and exposure prevalence estimates similar to those based on the prerecruitment sample.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Attaining high participation rates was difficult in this study that was conducted in new mothers, particularly for the controls. The resulting nonresponse bias was minimized through IPW.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2457","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143446918","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":"Prenatal Opioid Use Disorder and the Risk of Congenital Anomalies in Offspring: A Population-Based Study","authors":"Kaylee Ramage,&nbsp;Jennifer Yee,&nbsp;Sebastian Srugo,&nbsp;Julian Little,&nbsp;Shiliang Liu","doi":"10.1002/bdr2.2456","DOIUrl":"https://doi.org/10.1002/bdr2.2456","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To examine whether prenatal opioid use disorder (OUD) diagnosis is associated with the risk of congenital anomalies (CAs) in offspring.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a population-based study of mother–newborn dyads comprising.</p>\u0000 \u0000 <p>4143 761 births delivered in Canada from 2006 to 2021. We used robust Poisson regression to examine the association between prenatal OUD diagnosis and risk of non-chromosomal CAs, adjusted for maternal age, parity, multiple gestation, co-morbidities (including mental health disorders, chronic illnesses and other substance use disorders), and infant sex.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified a total of 21, 638 births to persons who were diagnosed with prenatal OUD and 65, 992 (159.3 per 10,000) newborns with CAs. The overall risk of CAs was 2.3 times higher in infants born to birthing persons with a diagnosis of OUD (95% CI 2.2, 2.5). Compared to those without OUD diagnoses, births to persons with a diagnosis of OUD had a higher risk of specific types of congenital microcephaly (aRR 5.2, 95% CI 4.1, 6.6), cleft palate (RR 4.8, 95% CI 3.7, 6.1), pulmonary valve atresia with intact ventricular septum (aRR 2.7, 95% CI 1.1, 6.7), and atrial septal defect (aRR 3.1, 95% CI 2.8, 3.5), among others. In particular, infants born to those with an OUD diagnosis had a 1.8 (95% CI 1.4, 2.3)-fold increased risk of having severe congenital heart disease.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our findings suggest an association between prenatal OUD diagnosis and certain CAs in the offspring. Future research is necessary to better understand the role of socio-demographic factors on these associations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2456","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143446917","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":"Maternal Diarrhea During the Periconceptional Period and the Risk of Birth Defects, National Birth Defects Prevention Study, 2006–2011","authors":"Dorothy Kim Waller,&nbsp;Nithya Lakshmi Mohan Dass,&nbsp;Omobola O. Oluwafemi,&nbsp;A. J. Agopian,&nbsp;Ji Yun Tark,&nbsp;Adrienne T. Hoyt,&nbsp;Angela E. Scheuerle,&nbsp;Mark A. Canfield,&nbsp;the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2438","DOIUrl":"https://doi.org/10.1002/bdr2.2438","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The primary objective of this study was to assess associations between maternal reports of diarrhea during early pregnancy and a range of different birth defects, most of which have not been assessed in previous studies. The secondary objective was to determine whether associations were modified by maternal use of multivitamins.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed data on 16,675 mothers who participated in the National Birth Defects Prevention Study (NBDPS) and delivered between 2006 and 2011. Logistic regression was used to evaluate associations between maternal report of diarrhea during the periconceptional period and 32 categories of birth defects. Odds ratios were adjusted for nine covariates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Eleven percent of women reported having diarrhea during the periconceptional period. We observed elevated associations (<i>p</i> &lt; 0.10) between maternal report of diarrhea lasting 1–5 days and 9 of 32 independent categories of birth defects (hypoplastic left heart, muscular ventricular septal defect, single ventricle complex, secundum atrial septal defect, esophageal atresia, diaphragmatic hernia, omphalocele, gastroschisis, and amniotic band syndrome). The elevated adjusted odds ratios (aORs) ranged from 1.45 to 2.62. There were no decreased associations between maternal report of diarrhea lasting 1–5 days and any of the 32 birth defects. There was no evidence for a significant linear trend of stronger associations between maternal diarrhea and birth defects among mothers who had inadequate or suboptimal use of multivitamins.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our results are consistent with modest associations between shorter, but not longer, bouts of maternal diarrhea and specific categories of birth defects. These results add to existing evidence, suggesting maternal diarrhea and gastrointestinal infections during early pregnancy are associated with a higher frequency of some birth defects.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143446916","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":"Perinatal Outcomes in Patients With Neural Tube Defects in a Middle-Income Setting","authors":"Berenice Velazquez-Torres,&nbsp;Sandra I. Pacheco-Ruiz,&nbsp;Sandra Acevedo-Gallegos,&nbsp;Mario I. Lumbreras-Marquez,&nbsp;Rolando Jimenez-Guerra,&nbsp;Jose A. Ramirez-Calvo,&nbsp;Maria J. Rodriguez-Sibaja,&nbsp;Yubia Amaya-Guel","doi":"10.1002/bdr2.2455","DOIUrl":"https://doi.org/10.1002/bdr2.2455","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neural tube defects (NTDs) are the second most common congenital malformation. Periconceptional, prenatal, and perinatal interventions have been implemented to reduce their incidence and improve those affected's survival and quality of life. The study aims to describe this population's prevalence, interventions performed, clinical management, and perinatal outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective review of all prenatally diagnosed neural tube defect cases from January 2018 to April 2024 at a perinatal referral center in Mexico City was conducted.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>One hundred seventy-two cases were identified with a prevalence of 9.8/1000 births, including anencephaly (17.26%), myeloschisis (8.63%), myelomeningocele (56.83%), encephalocele (12.94%), meningocele (4.31%) and lipomyelomeningocele (0.71%), with a median gestational age at diagnosis of 28.4 weeks; 39.57% had normal pregestational weight. Maternal characteristics in the sample included epilepsy (4.32%), diabetes (15.83%), history of a child with NTD (1.43%), exposure to teratogens (4.32%), and folic acid intake after 8 weeks gestation (21.58%). Myelomeningocele had a higher survival rate to discharge of 93.40%, as well as associated defects (53.1%), with bilateral clubfoot being the highest (29.1%); Nine patients (6.47%) received palliative care. The median in-hospital length of stay was 21.5 days. Post-surgical complications were reported in 10.9% of patients with myelomeningocele. 25.8% received pediatric rehabilitation assessment, 5.7% presented with neurogenic bladder, and 3rd-level hospitals were the highest referral units.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Managing NTDs involves preconception strategies, prenatal diagnosis, postnatal care, timely surgical interventions, and early pediatric rehabilitation. Likewise, proper referral to complex tertiary care to manage complications and additional morbidity in these cases could improve short- and long-term patient outcomes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2455","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143438796","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":"Assessing Environmental Risks Factors in Anorectal Malformations: Case Report and Literature Review","authors":"Claudia Ortiz-Fernandez,&nbsp;Ferran Campillo i López,&nbsp;Stephan Otto Schneider,&nbsp;Bernardo Núñez,&nbsp;Anton Foguet i Vidal","doi":"10.1002/bdr2.2445","DOIUrl":"https://doi.org/10.1002/bdr2.2445","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Anorectal malformations are birth defects that affect 1 in 5000 live births. Despite the research, the cause is still unknown, but genetic and environmental factors have been described to contribute to its pathogenesis. We report the case of a child with an anterior ectopic anus in which prenatal environmental factors were systematically assessed using a screening evaluation interview, the Green Page, and a complete Pediatric Environmental History.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>A first born of a 29 year old woman with a history of epilepsy treated with high doses of lamotrigine, levetiracetam, and clobazam, and a subclinical hypothyroidism treated with levothyroxine. Periconceptional supplementation with 400mcg of folic acid, maternal and paternal smoking habit, and some occupational exposures to chemical hazards. No personal or family history of congenital malformations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Some previously related environmental factors were found, such as mother's epilepsy, high lamotrigine dose, tobacco exposure, air pollution, and in a lesser risk the use of levothyroxine. The Green Page and the Pediatric Environmental History could contribute to identifying and reducing environmental risks related to birth defects.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143431397","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}