Birth Defects Research最新文献

{"title":"A Supra-Numerary Limb Grafted Onto a Sacrococcygeal Mass in a Child With Spinal Dysraphism: Case Report, Dysmorphogenesis, and Management Review","authors":"Kaylene Freitas,&nbsp;Leonor Castro,&nbsp;Carla Pilar,&nbsp;Catarina Barreira,&nbsp;Rosete Nogueira,&nbsp;Jenny Gonçalves","doi":"10.1002/bdr2.2447","DOIUrl":"https://doi.org/10.1002/bdr2.2447","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Externally attached supra-numerary body structures are a rare congenital malformation. Dysmorphogenesis remains controversial, hence many different classifications have been proposed over the years. We report a case of a supra-numerary lower limb grafted onto a sacrococcygeal mass in a child with a myelomeningocele. Prevailing theories for its origin are revised as well as prenatal and postnatal management.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>The case relates to a female neonate with a third lower limb grafted to a lumbosacral mass found upon birth. Postnatal imaging revealed a lipomyelomeningocele and a supra-numerary limb. Surgical intervention was performed on day seven of life with removal of the supra-numerary limb and correction of the dural defect. Anatomopathologic study revealed mature and dysplastic tissues of the three germlines. The infant was discharged after 16 days to follow-up by a multidisciplinary team. In early follow-up, minor asymmetry in lower limb mobility, peri-anal anesthesia, and bladder incontinence was present. Currently 8 years old, the patient has no motor or sensory dysfunction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This case challenges the existing theories for conjoined twinning, as they do not fully explain the co-occurrence of neural tube defects in sacrally fused supra-numerary structures. Whether these malformations are entities of a single disease spectrum or the result of independent dysmorphogenesis is debated. Prenatal diagnosis with sequential investigation of morphogenesis as well as postnatal anatomopathological examination are crucial for a better understanding of complex biologic processes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143112119","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":"Evaluation of the Clinical and Genetic Characteristics of Primary Ciliary Dyskinesia Patients With Situs Inversus Totalis","authors":"Feyza Ustabas Kahraman,&nbsp;Uzeyir Jafarov,&nbsp;Hakan Yazan,&nbsp;Ismail Yurtsever,&nbsp;Erkan Cakir,&nbsp;Gozde Yesil Sayin","doi":"10.1002/bdr2.2444","DOIUrl":"https://doi.org/10.1002/bdr2.2444","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Situs inversus totalis (SIT) is present in approximately 40%–50% of patients with primary ciliary dyskinesia (PCD). We evaluated the relationships between novel genetic results and the clinical and radiological characteristics of PCD patients with SIT.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study included 48 patients diagnosed with PCD and SIT. Demographic and clinical features, disease-related scores (Bhalla, Primary Ciliary Dyskinesia Rule [PICADAR], and American Thoracic Society [ATS]), and genetic analyses were retrospectively assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The median age of patients was 13 (6.5–16) years, and parental consanguinity was observed in 43 (89.58%) patients. Bhalla score was available in 31 patients and “moderate and severe” score was observed in 19 (61.29%) patients. The median PICADAR score was 10 (8–11), and 34 (70.83%) patients had a high (≥ 10) PICADAR score. The ATS score was found to be 4 in 24 (50%) patients and 3 in 20 (43.75%) patients. Genetic data were available in 40 patients and mutations were found in 27 (67.5%) patients. The most common pathogenic variants were DNAH5 in 8 (20%), CCDC103 in 4 (10%), and CCDC39 in 3 (7.5%) patients. Subjects with any genetic variants may be older, have a greater frequency of parental consanguinity, higher Bhalla score, and higher ATS score (<i>p</i> &lt; 0.05). DNAH5 mutation was associated with a lower likelihood of neonatal ICU stay and neonatal respiratory distress-related symptoms (<i>p</i> = 0.036 and 0.015, respectively).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Situs abnormalities may be a warning sign for the early diagnosis of PCD. Early diagnosis of PCD through genetic analysis is important for preventing chronic lung pathologies and predicting prognosis and may improve the quality of life.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143112121","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":"Risk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study","authors":"E.-A. Cifuentes,&nbsp;A. Beau,&nbsp;A. Caillet,&nbsp;F. Frémont,&nbsp;A. J. Neville,&nbsp;E. Ballardini,&nbsp;H. Dolk,&nbsp;M. Loane,&nbsp;E. Garne,&nbsp;B. Khoshnood,&nbsp;N. Lelong,&nbsp;A. Rissmann,&nbsp;M. O'Mahony,&nbsp;A. Pierini,&nbsp;M. Gatt,&nbsp;J. E. H. Bergman,&nbsp;M. R. Krawczynski,&nbsp;A. Latos Bielenska,&nbsp;L.-J. Echevarría González de Garibay,&nbsp;C. Cavero Carbonell,&nbsp;M.-C. Addor,&nbsp;D. Tucker,&nbsp;S. Jordan,&nbsp;E. Den Hond,&nbsp;V. Nelen,&nbsp;I. Barisic,&nbsp;F. Rouget,&nbsp;H. Randrianaivo,&nbsp;J. Hoareau,&nbsp;I. Perthus,&nbsp;M. Courtade-Saïdi,&nbsp;C. Damase-Michel,&nbsp;C. Dubucs","doi":"10.1002/bdr2.2435","DOIUrl":"10.1002/bdr2.2435","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In Europe, the prevalence of congenital ocular anomaly (COA) is estimated at 3.7 per 10,000 births. While certain COAs have a genetic origin, the cause for most patients remains unknown. The role of medications administered during pregnancy in COA genesis in humans is unclear.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To investigate any association between fetal exposure in the first trimester of pregnancy to medications and the occurrence of COA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a case-malformed-control study using data on 298,351 cases registered as having congenital anomalies (CA) from 19 registries and one healthcare database in 13 European countries. Two analyses were performed: (i) A signal confirmation analysis of signals from the literature, examining associations between COA and specific medications (nitrofurantoin, NSAIDs, opioids, alprazolam, antihypertensives, asthma medications, pyridoxine, and hydroxyethylrutoside). (ii) A signal detection analysis of all medications reported in the database.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 4185 COA cases and 232,718 nongenetic and 38,409 genetic controls. We confirmed the association between prenatal opioid exposure and COA (aROR: 2.66, 95% CI: 1.18, 6.02, and 3.22, 95% CI: 1.35, 7.69, for nongenetic and genetic controls, respectively). Signal detection analysis revealed consistent associations for antiglaucoma preparations and miotics (<i>p</i> &lt; 0.01) related to COA. Other associations included congenital cataracts and lens anomalies with desloratadine, congenital glaucoma with antiepileptics, and eyelid malformations with dermatological hydrocortisone.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This pharmacoepidemiological study in Europe analyzing COA following fetal medication exposure confirmed reported signals regarding opioids and COA and identified new associations. Validation in independent datasets is necessary to consolidate these findings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073839","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":"A Generalized Machine Learning Model for Identifying Congenital Heart Defects (CHDs) Using ICD Codes","authors":"Haoming Shi,&nbsp;Wendy M. Book,&nbsp;Lindsey C. Ivey,&nbsp;Fred H. Rodriguez III,&nbsp;Cheryl Raskind-Hood,&nbsp;Karrie F. Downing,&nbsp;Sherry L. Farr,&nbsp;Courtney E. McCracken,&nbsp;Vinita O. Leedom,&nbsp;Susan E. Haynes,&nbsp;Sandra Amouzou,&nbsp;Reza Sameni,&nbsp;Rishikesan Kamaleswaran","doi":"10.1002/bdr2.2440","DOIUrl":"10.1002/bdr2.2440","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>International Classification of Diseases</i> (ICD) codes utilized for congenital heart defect (CHD) case identification in datasets have substantial false-positive (FP) rates. Incorporating machine learning (ML) algorithms following case selection by ICD codes may improve the accuracy of CHD identification, enhancing surveillance efforts.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Traditional ML methods were applied to four encounter-level datasets, 2010–2019, for 3334 patients with validated diagnoses and with at least one CHD ICD code identified. A 5-fold cross-validation approach was applied to the dataset to determine the set of overlapping important features best classifying CHD cases. Training and testing combinations were explored to determine the approach yielding the most accurate CHD classification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>CHD ICD positive predictive values (PPVs) by site ranged from 53.2% to 84.0%. The ML algorithm achieved a PPV of 95% (1273/1340) for the four-site dataset with a false-negative (FN) rate of 33% (639/1912) by choosing an operating point prioritizing PPV from the PPV–FN rate curve. XGBoost reduced 2105 Clinical Classification Software (CCS) features to 137 that identified those with true-positive (TP) CHD and false-positive FP classification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Applying ML algorithms following case selection by CHD-related ICD codes improved the accuracy of identifying TP true-positive CHD cases.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143073838","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":"Pre- and Postnatal Development Study of Nemolizumab, a Humanized Anti-Interleukin-31 Receptor A Monoclonal Antibody, in Cynomolgus Monkey","authors":"Ryuichi Katagiri,&nbsp;Saori Matsuo,&nbsp;Hisashi Ikegami,&nbsp;Akihisa Kaneko,&nbsp;Akihiro Arima,&nbsp;Shuichi Chiba,&nbsp;Masanori Sasaki","doi":"10.1002/bdr2.2442","DOIUrl":"10.1002/bdr2.2442","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Nemolizumab, a humanized monoclonal antibody against interleukin-31 receptor A (IL-31RA), is used to treat atopic dermatitis and prurigo nodularis. These inflammatory skin diseases affect a wide range of age groups, including pregnant women and children; however, little is known about their biological effects on pre- and postnatal development. Therefore, we report and discuss the results of an enhanced pre- and postnatal development study in cynomolgus monkeys treated with nemolizumab, which also incorporates an assessment of juvenile toxicities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Nemolizumab was subcutaneously administered at doses of 1 or 25 mg/kg to pregnant cynomolgus monkeys once every 2 weeks (biweekly) from Gestation Day 20 until delivery, to investigate the potential toxicities on pre- and postnatal development. Additionally, their offspring were subcutaneously dosed biweekly with 1 or 25 mg/kg from approximately 1 to 7 months after birth to investigate the potential toxicities on juveniles, considering the age of the target patient population. The examination included tests for immune function and nervous system involvement by IL-31, as well as the standard assessments outlined in the ICH S5 guideline to comprehensively assess the safety profile.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No nemolizumab-related toxicities were observed in both dams and offspring up to 25 mg/kg. Maternal plasma nemolizumab concentrations were well maintained during the gestation period, gradually decreasing after delivery. Plasma concentrations in the offspring, higher than in dams, was maintained until scheduled necropsy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Blocking IL-31 signaling with repeated dosing of nemolizumab did not adversely affect pregnancy, parturition, nursing, or postnatal physical and functional development in cynomolgus monkeys.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045574","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":"Comorbidities and Healthcare Utilization Among Young Adults With Congenital Heart Defects by Down Syndrome Status—Congenital Heart Survey to Recognize Outcomes, Needs, and wellbeinG, 2016–2019","authors":"Vanessa I. Villamil,&nbsp;Karrie F. Downing,&nbsp;Matthew E. Oster,&nbsp;Jennifer G. Andrews,&nbsp;Maureen K. Galindo,&nbsp;Jenil Patel,&nbsp;Scott E. Klewer,&nbsp;Wendy N. Nembhard,&nbsp;Sherry L. Farr","doi":"10.1002/bdr2.2439","DOIUrl":"10.1002/bdr2.2439","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Almost half of individuals born with Down syndrome (DS) have congenital heart defects (CHDs). Yet, little is known about the health and healthcare needs of adults with CHDs and DS. Therefore, we examined comorbidities and healthcare utilization of this population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data were from the 2016–2019 Congenital Heart Survey to Recognize Outcomes, Needs, and well-beinG (CH STRONG), a survey of 19–38-year-olds with CHDs identified through birth defects registries in Arkansas, Arizona, and Atlanta. Outcome estimates were standardized to the CH STRONG eligible population. Multivariable Poisson regression generated adjusted prevalence ratios (aPRs) for associations between DS and each outcome, adjusting for covariates, including CHD severity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 1500 respondents, 9.1% had DS. Compared to those without DS, respondents with DS were more commonly male (55.5% vs. 45.0%), &lt; 25 years old (51.8% vs. 42.7%), non-Hispanic White (72.3% vs. 69.3%), and publicly insured (77.4% vs. 22.8%; all <i>p</i> &lt; 0.05). Of adults with CHDs and DS, 5.5% had cardiac comorbidities, 19.3% had emergency room (ER) visits, 6.2% had hospital admissions, and 1.2% had cost-related delays in care in the last year; 0.1 to 0.6 times lower than adults with CHDs without DS. Additionally, 26.7% had non-cardiac comorbidities (aPR = 1.25 [0.92–1.72]), most commonly sleep apnea (13.7% vs. 3.2%, aPR = 3.67 [2.02–6.67]). Receipt of cardiology care in the last 2 years was similarly low (52.7% vs. 44.7%).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Adults with CHDs and DS comprise a substantial percentage of adults with CHDs and have unique health and healthcare needs. Half of adults with CHDs and DS are not receiving recommended routine cardiac care.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143045488","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":"Cognitive, Behavioral and Educational Outcomes in Children Aged 5–11 Years With Spina Bifida in Northern Ireland","authors":"Yogesh Gopal Parajuli,&nbsp;Marlene Sinclair","doi":"10.1002/bdr2.2434","DOIUrl":"10.1002/bdr2.2434","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>While improved medical and surgical care for children with spina 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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>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>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-18","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 Substantiated Garey, 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":"10.1002/bdr2.2430","url":null,"abstract":"&lt;p&gt;\u0000 &lt;span&gt;Garey, J.&lt;/span&gt;, &lt;span&gt;Damkier, P.&lt;/span&gt;, &lt;span&gt;Scialli, A.&lt;/span&gt;, &lt;span&gt;Lusskin, S.&lt;/span&gt;, &lt;span&gt;Braddock, S.&lt;/span&gt;, &lt;span&gt;Chouchana, L.&lt;/span&gt;, &lt;span&gt;Cleary, B.&lt;/span&gt;, &lt;span&gt;Conover, E.&lt;/span&gt;, &lt;span&gt;Diav-Citrin, O.&lt;/span&gt;, &lt;span&gt;Dragovich, R.&lt;/span&gt;, &lt;span&gt;Garcia-Bournissen, F.&lt;/span&gt;, &lt;span&gt;Hodson, K.&lt;/span&gt;, &lt;span&gt;Kennedy, D.&lt;/span&gt;, &lt;span&gt;Lamm, S.&lt;/span&gt;, &lt;span&gt;Lavigne, S.&lt;/span&gt;, &lt;span&gt;Običan, S.&lt;/span&gt;, &lt;span&gt;Panchaud, A.&lt;/span&gt;, &lt;span&gt;Perrotta, K.&lt;/span&gt;, &lt;span&gt;Romeo, A.&lt;/span&gt;, &lt;span&gt;Shechtman, S.&lt;/span&gt; and &lt;span&gt;Weber-Schoendorfer, C.&lt;/span&gt; (&lt;span&gt;2024&lt;/span&gt;), &lt;span&gt;Paternal Valproate Treatment and Risk of Childhood Neurodevelopmental Disorders: Precautionary Regulatory Measures Are Insufficiently Substantiated&lt;/span&gt;. &lt;i&gt;Birth Defects Research&lt;/i&gt;, &lt;span&gt;116&lt;/span&gt;: e2392. https://doi.org/10.1002/bdr2.2392\u0000 &lt;/p&gt;&lt;p&gt;In the originally published article, the affiliations for Shari Lusskin, Stephen R. Braddock, Laurent Chouchana, and Brian Cleary were given incorrectly. The correct authors and affiliations are given below:&lt;/p&gt;&lt;p&gt;Joan D. Garey&lt;sup&gt;1&lt;/sup&gt;, Per Damkier&lt;sup&gt;2,3&lt;/sup&gt;, Anthony R. Scialli&lt;sup&gt;1&lt;/sup&gt;, Shari Lusskin&lt;sup&gt;4&lt;/sup&gt;, Stephen R. Braddock&lt;sup&gt;5&lt;/sup&gt;, Laurent Chouchana&lt;sup&gt;6&lt;/sup&gt;, Brian Cleary&lt;sup&gt;7,8&lt;/sup&gt;, | Elizabeth A. Conover&lt;sup&gt;9&lt;/sup&gt;, Orna Diav-Citrin&lt;sup&gt;10,11&lt;/sup&gt;, Rachel S. Dragovich&lt;sup&gt;12&lt;/sup&gt;, Facundo Garcia-Bournissen&lt;sup&gt;13&lt;/sup&gt;, Ken Hodson&lt;sup&gt;14&lt;/sup&gt;, Debra Kennedy&lt;sup&gt;15&lt;/sup&gt;, Steven H. Lamm&lt;sup&gt;16&lt;/sup&gt;, Sharon A. Lavigne&lt;sup&gt;17&lt;/sup&gt;, Sarah G. Običan&lt;sup&gt;18&lt;/sup&gt;, Alice Panchaud&lt;sup&gt;19,20&lt;/sup&gt;, Kirstie Perrotta&lt;sup&gt;21&lt;/sup&gt;, Alfred N. Romeo&lt;sup&gt;22&lt;/sup&gt;, Svetlana Shechtman&lt;sup&gt;10&lt;/sup&gt;, Corinna Weber-Schoendorfer&lt;sup&gt;23&lt;/sup&gt;.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;1&lt;/sup&gt;Reproductive Toxicology Center, A Non-Profit Foundation, Washington, DC, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;2&lt;/sup&gt;Department of Clinical Research, University of Southern Denmark, Odense, Denmark.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;3&lt;/sup&gt;Department of Clinical Pharmacology, Odense University Hospital, Odense, Denmark.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;4&lt;/sup&gt;Departments of Psychiatry and Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;5&lt;/sup&gt;Division of Medical Genetics, Department of Pediatrics, Saint Louis University School of Medicine, St. Louis, Missouri, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;6&lt;/sup&gt;Regional Center of Pharmacovigilance, Department of Pharmacology, Cochin Port Royal Hospital, APHP, Paris, France.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;7&lt;/sup&gt;The Rotunda Hospital, Dublin, Ireland.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;8&lt;/sup&gt;School of Pharmacy and Biomedical Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;9&lt;/sup&gt;Division of Clinical Genetics, Munroe Meyer Institute, University of Nebraska Medical Center, Omaha, Nebraska, USA.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;10&lt;/sup&gt;The Israeli Teratology Information Service, Ministry of Health, Jerusalem, Israel.&lt;/p&gt;&lt;p&gt;&lt;sup&gt;11&lt;/sup&gt;The Hebrew University Hadassah Medical School, Jerusalem, ","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2430","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":"OA","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 Fistula ElHassan, 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":"10.1002/bdr2.2431","url":null,"abstract":"<p>This article was originally published with the incorrect title “Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Atresia.” It has now been corrected to “Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Fistula.” The online version of the article has been updated with the correct title.</p><p>We apologize for this error.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2431","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"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,&nbsp;Kirstie Perrotta,&nbsp;Elizabeth Conover,&nbsp;Christine Perdan Curran,&nbsp;Sarah G. Običan","doi":"10.1002/bdr2.2433","DOIUrl":"10.1002/bdr2.2433","url":null,"abstract":"&lt;p&gt;In April of 2020, the Society for Birth Defects Research and Prevention (BDRP) and the Organization of Teratology Information Specialists (OTIS) published a joint position statement acknowledging the critical role that vaccines play in improving health, including the health of pregnant persons and their children (Rasmussen, Kancherla, and Conover &lt;span&gt;2020&lt;/span&gt;). Since the publication of that statement, new information has emerged that has prompted an update to our 2020 position statement, including additional data that further substantiate the value provided by vaccines, and the availability of two new vaccines to protect pregnant persons and their infants from infectious disease. Challenges to vaccination have increased, with the COVID-19 pandemic leading to a rapid escalation of vaccine misinformation spread online. These challenges have led to declining vaccination rates, which threaten decades of improvements in health (Marks and Califf &lt;span&gt;2024&lt;/span&gt;). Therefore, we have updated our statement to provide our organizations' continued support for vaccination as an essential strategy to protect the health of pregnant persons and their children.&lt;/p&gt;&lt;p&gt;Since our previous position statement, evidence has continued to accumulate regarding the value of vaccinations in reducing morbidity and mortality. A global modeling study estimated that vaccination averted 154 million deaths between 1974 and 2024, including 146 million deaths among children under 5 years of age, with 101 million of those being infants less than 1 year of age. The authors noted that measles vaccination was responsible for the greatest number of lives saved during this time period (93.7 million), accounting for 60.8% of the total (Shattock et al. &lt;span&gt;2024&lt;/span&gt;). Specific to COVID-19, which was excluded from the previous modeling study, an analysis demonstrated that COVID-19 vaccination prevented 14.4 million deaths in the first year that vaccines were available (Watson et al. &lt;span&gt;2022&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;Additional data in support of human papillomavirus (HPV) vaccination have also been published. The clinical trials supporting approval of the quadrivalent HPV vaccine demonstrated its efficacy in the prevention of high-grade cervical lesions, which are precursors to cervical cancer (Future II Study Group &lt;span&gt;2007&lt;/span&gt;). More recent data have gone further to document the vaccine's ability to prevent cervical cancer. In a study in Sweden of nearly 1.7 million participants, vaccination of girls before the age of 17 years with the quadrivalent HPV vaccine was associated with a nearly 90% reduction in cervical cancer incidence compared to those who had not been vaccinated (Lei et al. &lt;span&gt;2020&lt;/span&gt;).&lt;/p&gt;&lt;p&gt;Of particular interest to our societies, global progress toward elimination of rubella and congenital rubella syndrome, a constellation of birth defects caused by rubella infection during pregnancy, continues. During 2012–2022, the percentage of the world's infants va","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2433","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":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}