Birth Defects Research最新文献

{"title":"Updated Joint Position Statement on Vaccines From the Society for Birth Defects Research and Prevention and the Organization of Teratology Information Specialists.","authors":"Sonja A Rasmussen, Kirstie Perrotta, Elizabeth Conover, Christine Perdan Curran, Sarah G Običan","doi":"10.1002/bdr2.2433","DOIUrl":"https://doi.org/10.1002/bdr2.2433","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2433"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000032","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 6Rs of EFDT Studies.","authors":"L David Wise","doi":"10.1002/bdr2.2429","DOIUrl":"https://doi.org/10.1002/bdr2.2429","url":null,"abstract":"<p><p>Given the increased concerns over reproducibility, replicability, and reliability of scientific studies, the embryo-fetal developmental toxicity (EFDT) study was examined from this perspective together with the classic 3Rs. These 6Rs contribute to external validity (i.e., applicability to human safety). Species differences and experimental conditions lower the validity of all preclinical studies to variable extents. The apparent lack/paucity of demonstrated replicate EFDT studies lowers reliability and thus validity. I make suggestions intended to add reliability for the continued use of these studies, which are a cornerstone for assessing safety during human pregnancies. Experienced readers will recognize that the suggestions would also apply to other guideline-mandated developmental and reproductive toxicity and toxicity studies.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2429"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909005","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":"Patterns of Co-Occurring Birth Defects in Chinese Infants With Congenital Diaphragmatic Hernia: A National Hospital-Based Surveillance Study.","authors":"Zhi-Yu Chen, Wen-Li Xu, Yu-Yang Gao, Wen-Yan Li, Zhen Liu, Jia-Yuan Zhou, Li Dai","doi":"10.1002/bdr2.2432","DOIUrl":"10.1002/bdr2.2432","url":null,"abstract":"<p><strong>Background: </strong>The landscape of co-occurring birth defects among infants with congenital diaphragmatic hernia (CDH) remains underexplored.</p><p><strong>Aims: </strong>This study aims to elucidate the complex patterns of co-occurring defects in Chinese population.</p><p><strong>Materials and methods: </strong>We analyzed cases from the Chinese Birth Defects Monitoring Network (2007-2019) with CDH that presented along with at least one additional defect but without a syndromic diagnosis. Adjusted observed-to-expected prevalence (O/E) ratios were calculated for all two- to five-way combinations to discern patterns of co-occurring defects with CDH more frequently than expected by chance.</p><p><strong>Results: </strong>Among 1235 CDH cases associated with other birth defects, the top 30 combinations with the highest adjusted O/E ratios included musculoskeletal, cardiovascular, central nervous system, facial, and renal defects. Cardiovascular defects were involved in 76.7% of the top combinations, followed by central nervous system (23.3%) and musculoskeletal defects (20.0%). The combination of polydactyly and syndactyly anomalies exhibited the highest adjusted O/E ratio of 5963.37 (95% confidence interval: 5960.00-5966.73).</p><p><strong>Discussion: </strong>The relationship between musculoskeletal malformation and CDH may be explained from the aspects of epidemiology, embryology and pathogenesis. And mechanisms for the co-occurrence of cardiovascular and CDH may involve disruption of common pathways.</p><p><strong>Conclusion: </strong>Our analyses describe the co-occurrence patterns of birth defects in CDH infants and reveal several noteworthy patterns. The observed patterns can guide further study and enhance our comprehension understanding of the developmental mechanisms underlying multiple defects.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2432"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11734095/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142982679","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":"Cognitive, Behavioral and Educational Outcomes in Children Aged 5-11 Years With Spina Bifida in Northern Ireland.","authors":"Yogesh Gopal Parajuli, Marlene Sinclair","doi":"10.1002/bdr2.2434","DOIUrl":"https://doi.org/10.1002/bdr2.2434","url":null,"abstract":"<p><strong>Introduction: </strong>While improved medical and surgical care for children with pina bifida has improved their survival, some may have lower cognitive, behavioral and educational performance. The paper assesses the effect of spina bifida on cognitive, behavioral, and educational outcomes in 5-11 year olds.</p><p><strong>Methods: </strong>A cross-sectional study design was used where data were collected from parents/guardians and teachers using Behavior Rating Inventory of Executive Function, second edition (BRIEF2), Strengths and Difficulties Questionnaire (SDQ), and Teacher Academic Attainment Scale (TAAS).</p><p><strong>Results: </strong>Nineteen parental and 13 teacher responses were received for children with spina bifida, and 8 parental and seven teacher responses for children without Spina Bifida. Overall, the majority of the sample were female. Children in both groups performed at a similar level across subscales of BRIEF2 with the exception of Working Memory. No group differences were found in SDQ scales as assessed by parents; teacher assessment of conduct problems. Hyperactivity/inattention and peer problems were higher for children with spina bifida. Anticipated matched analysis was not possible due to unequal number of participants between the groups. Children with spina bifida performed similarly as peers without spina bifida in all subjects across the curriculum with the exception of English, Mathematics, and History.</p><p><strong>Discussion: </strong>Based on this small sample, a potential need for evidence-based interventions to assist children with spina bifida in the cognitive area of working memory and also in English, Mathematics and History is postulated. Larger longitudinal studies are required to confirm these findings.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2434"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11742512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999970","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":"Correction to Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently SubstantiatedGarey, J., Damkier, P., Scialli, A., Lusskin, S., Braddock, S., Chouchana, L., Cleary, B., Conover, E., Diav-Citrin, O., Dragovich, R., Garcia-Bournissen, F., Hodson, K., Kennedy, D., Lamm, S., Lavigne, S., Običan, S., Panchaud, A., Perrotta, K., Romeo, A., Shechtman, S. and Weber-Schoendorfer, C. (2024), Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated. Birth Defects Research, 116: e2392. https://doi.org/10.1002/bdr2.2392.","authors":"","doi":"10.1002/bdr2.2430","DOIUrl":"https://doi.org/10.1002/bdr2.2430","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2430"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999960","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":"Seasonal Fluctuation in the Incidence of Congenital Hypothyroidism Across Different Temperate Zones of China.","authors":"Yongna Yao, Kui Deng, Jun Zhu, Qi Li, Liangcheng Xiang, Xuelian Yuan, Yanping Wang, Zheng Liu, Huiwen Tan, Xiaohong Li","doi":"10.1002/bdr2.2437","DOIUrl":"https://doi.org/10.1002/bdr2.2437","url":null,"abstract":"<p><strong>Background: </strong>Seasonality in the incidence of congenital hypothyroidism (CH) has been identified in several countries and different conclusions have been drawn. The objective of this study was to examine whether this seasonality is also observable in China and how it manifests across different temperate zones.</p><p><strong>Methods: </strong>Data on CH cases and screened neonates between January 1, 2014, and September 30, 2022, by year and season, were sourced from the Chinese Newborn Screening Information System. The overall CH incidence and incidence across different temperate zones was analyzed by using the seasonal unit root test, seasonal decomposition, and deterministic seasonal means regression model.</p><p><strong>Results: </strong>A total of 29,259 CH cases were reported nationwide from season one of 2014 to season three of 2022. Quarterly CH incidence showed an upward time trend and significant seasonality among all zones, but with different patterns. Overall, season one was the peak period with an incidence rate of 7.09 per 10,000 neonates, whilst season two was the trough period with an incidence rate of 5.89. Subtropical, warm, and medium temperate zones had one peak period in season one, whilst the tropical zone had two peak periods in seasons one and three. In comparison, the plateau zone had a trough season in season one.</p><p><strong>Conclusion: </strong>Our study found the quarterly CH incidence exhibited clear seasonality, temperate zone-specific patterns, and an upward time trend in China. This finding is particularly concerning given China's decline in the number of births, underscoring the urgency of allocating resources appropriately in screening programs.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2437"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143000017","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 Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal FistulaElHassan, N.O., Cen, R., Pugh, C.P., Akmyradov, C., Ying, J., Goudie, A. and Nembhard, W.N. (2024), Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Fistula. Birth Defects Research, 116: e2417. https://doi.org/10.1002/bdr2.2417.","authors":"","doi":"10.1002/bdr2.2431","DOIUrl":"https://doi.org/10.1002/bdr2.2431","url":null,"abstract":"","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":"e2431"},"PeriodicalIF":1.6,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142999956","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":"Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect","authors":"Birsen Konukcu","doi":"10.1002/bdr2.2421","DOIUrl":"10.1002/bdr2.2421","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or in conjunction with heart defects and forebrain abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>A standard second-trimester ultrasound exam was recommended for, a 23-year-old primigravida woman who was at 22 weeks gestation. The oral fissure was “pinhole-shaped,” the mouth was incredibly small, and the usual lower jaw and lower lip had vanished from the S-curve. On the front of the neck were the two ears. Amniocentesis revealed a 46,XY normal karyotype. The family opted for a medically assisted termination. At 23 weeks, the pregnancy was ended by vaginal delivery. Observation of the specimen revealed that the ear placements were remarkably low, and the specimen's observation revealed that the two earlobes were joined at the front of the neck.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Identifying the development of the mandible and locating auricles during prenatal ultrasound diagnosis was particularly challenging could be a better way to phrase this like in our recent example, the combination of two-dimensional and three-dimensional ultrasound was able to confirm the prenatal diagnosis of AOC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852573","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":"Factor Analysis of the Missed Diagnosis of Total Anomalous Pulmonary Venous Connection in Prenatal Echocardiography","authors":"Qichang Zhou,&nbsp;Dongmei Liu,&nbsp;Jiawei Zhou,&nbsp;Qiao Guo,&nbsp;Hongxia Yuan,&nbsp;Yinchun Luo,&nbsp;Ling Wang,&nbsp;Chan Yin,&nbsp;Zhongshi Wu,&nbsp;Qinghai Peng,&nbsp;Zhang Ming,&nbsp;Zeng Shi,&nbsp;Xu Ganqiong,&nbsp;Dan Zhou,&nbsp;Yang Yang","doi":"10.1002/bdr2.2426","DOIUrl":"10.1002/bdr2.2426","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This study investigated the major factors contributing to the missed diagnosis of total anomalous pulmonary venous connection (TAPVC) in fetal echocardiography.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analyzed the prenatal ultrasonic images of 32 fetuses with missed diagnoses of TAPVC, compared them with autopsy and postnatal surgical records, and summarized the most likely reasons leading to the missed diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We studied a total of 157 fetuses with TAPVC, 32 (20.3%) of whom were missed in prenatal echocardiography. The main factors for the missed diagnoses of TAPVC in the 32 fetuses were anatomic variants leading to the formation of a false pulmonary venous horn-like structure, the combination of TAPVC with other intracardiac anomalies, difficulty or inability to show the course and abouchement of TAPVC on conventional color Doppler flow imaging (CDFI), and excessive color flow gain, with a rate of approximately 53.1% (17/32). A decreased left atrial size and augmentation of the PLAS index may be indicators of false pulmonary venous horn-like structure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>False pulmonary venous horn-like structures due to anatomic variants are a major factor in the missed diagnosis of fetal TAPVC. The presence of pulmonary venous horn-like structure in a four-chamber view does not completely exclude TAPVC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845986","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":"Life Course Considerations in Environmental Health: Developmental Neurotoxicity of Domoic Acid at Doses Below Acute Effect Levels in Adult Humans","authors":"Marlissa A. Campbell,&nbsp;Shannon R. Murphy,&nbsp;Susan A. Klasing,&nbsp;Yassaman Niknam,&nbsp;Poorni Iyer,&nbsp;Beckye Stanton,&nbsp;Lauren Zeise","doi":"10.1002/bdr2.2419","DOIUrl":"10.1002/bdr2.2419","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Current US federal action levels for domoic acid (DA) in seafood are based on acute toxicity observed in exposed adult humans. Life course considerations have not been incorporated. The potential for developmental neurotoxicity (DNT) at permissible DA levels has previously been noted, but not methodically assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Studies of DNT following DA exposure in experimental and wild animals were identified through a comprehensive search strategy. Evidence from papers meeting inclusion criteria was evaluated for specific outcomes reported for doses at which adverse effects were observed. Exposure levels associated with DNT were compared with those known to cause adult toxicity. The findings are discussed in the context of the well-characterized mechanism of DA neurotoxicity, as well as the toxicokinetics of DA across species and life stages.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>DNT outcomes were reported with a no observed adverse effect level (NOAEL) 10 times lower than the NOAEL of 0.75 mg DA/kg for acute effects in adults. Apart from reviewing current regulatory action levels, public health outreach messaging to health care professionals and sensitive populations, such as pregnant or breastfeeding women, should be considered as a means of increasing awareness about risk for DNT from consumption of potentially DA-contaminated seafood.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11639046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817039","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}