Birth Defects Research最新文献

{"title":"Infant Mortality due to Congenital Diaphragmatic Hernia, United States 2007–2021","authors":"Ramesh Vidavalur,&nbsp;Kanekal S. Gautham","doi":"10.1002/bdr2.2544","DOIUrl":"10.1002/bdr2.2544","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To analyze temporal trends and geographic variations in infant mortality rate associated with congenital diaphragmatic hernia (CDH-IMR) in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>From 2007 to 2021, we used CDC-WONDER linked birth/death data to identify CDH-related infant deaths (ICD-10 code: Q79 as the underlying cause of death), analyze annual CDH-IMR trends, and explore associations with sex, gender, gestational age (GA), and U.S. state of birth. Descriptive statistics were derived, and bivariate analyses were conducted to discern differences in CDH-IMR by gender, race, and GA. CDH-IMR was expressed per 100,000 live births with Poisson-modeled 95% confidence intervals, and trends were assessed through joinpoint regression to extrapolate annual percent change (APC).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Between 2007 and 2021, 59,117,761 live births and 3391 CDH-related infant deaths were recorded. CDH infant deaths accounted for 0.96% of all infant deaths and occurred in 0.006% of live births. The mean CDH-IMR was 5.7 (95% CI: 5.5–5.9) per 100,000 live births, with a significant downward trend (APC: −1.3%, [95% CI: −2.0, −0.5, <i>p</i> &lt; 0.01]). Asian infants had a lower risk of mortality (RR 0.66 [95% CI: 0.55, 0.79]) compared to White infants, and higher GA at birth correlated with better survival. Regional analysis revealed a median CDH-IMR (IQR) of 5.9 (4.7, 7.2), with a three-fold variation across U.S. states.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In this national population-based U.S. study, we observed a decreasing trend in CDH-IMR. However, significant variation in CDH mortality persists by region, gender, and race. Despite evidence of current CDH care is associated with a decreasing trend in mortality, there remain many opportunities for equitable improvement in outcomes across race, gender and by geographic region.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-11-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145494475","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":"Expression Pattern Alterations of the Brain KCC2 Chloride Transporter in Male Rats Following Postnatal Extremely Low-Frequency Electromagnetic Field Exposure Associated With Behavioral Outcomes","authors":"Mozhdeh Nemati,&nbsp;Masoumeh Nozari,&nbsp;Fatemeh Darvishzadeh-Mahani,&nbsp;Meysam Ahmadi-Zeidabadi,&nbsp;Sepideh Ganjalikhan-hakemi,&nbsp;Hamideh Bashiri,&nbsp;Sara Haratizadeh","doi":"10.1002/bdr2.2546","DOIUrl":"10.1002/bdr2.2546","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Exposure to extremely low-frequency magnetic fields (ELF-MFs) has increased with technological development. Environmental factors are known to influence the K⁺–Cl⁻ cotransporter 2 (KCC2), which regulates neuronal chloride homeostasis and is essential for brain development through its role in the GABAergic shift. In this study, we investigated the effects of ELF-MF exposure on KCC2 expression and related behavioral and biochemical outcomes in Wistar rat pups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Wistar rat pups were exposed to ELF-MF (10 mT, 50 Hz) for 2 h per day from postnatal day (PND) 1 to 10.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Results indicated a significant reduction in KCC2 expression in the ELF-MF–exposed group. Furthermore, these animals exhibited enhanced anxiety-like behaviors, elevated brain malondialdehyde (MDA) levels, and shortened latency to tonic–clonic seizures compared with controls.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings suggest that early exposure to ELF-MFs disrupts KCC2 expression in the developing brain and induces behavioral and biochemical abnormalities in male rats.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-11-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145487623","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":"Maternal and Placental Inflammation Influence Formation of Neural Tube Defects in Quaternary Ammonium Compound Exposed Mice","authors":"Justin Kula,&nbsp;Ryan P. Seguin,&nbsp;Libin Xu,&nbsp;Dylan Davis,&nbsp;Sarah E. Payne,&nbsp;Chad E. Byrd,&nbsp;Terry C. Hrubec","doi":"10.1002/bdr2.2539","DOIUrl":"10.1002/bdr2.2539","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Quaternary ammonium compounds (QACs) are common chemicals used for their antimicrobial, antistatic, and surfactant properties. Two common QACs, alkyldimethylbenzyl ammonium chloride (ADBAC or BAC) and didecyldimethyl ammonium chloride (DDAC), cause neural tube defects (NTDs) in mice and are proinflammatory in both mice and humans. The maternal immune system plays an integral role in normal fetal development with cytokine mediators in the placenta directing both placental and fetal development. This study was conducted to determine whether maternal systemic or placental inflammation was involved in QAC-induced NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Pregnant CD-1 mice received either a single gavage dose on gestational day (GD) 8.5; two gavage doses, one on GD 7.5 and the other on GD 8.5; or were dosed in the feed prior to mating and throughout breeding and gestation. Maternal whole blood, maternal bone marrow-derived macrophages, placentas, GD 10.5 embryos, and GD 17.5 fetuses were collected for NTD, cytokine and QAC analysis. Cytokines IL-6, IL-10, IL-12, PlGF, and TNF-α were determined by ELISA. ADBAC and DDAC concentrations were determined by UPLC–MS/MS.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>ADBAC and DDAC concentrated in placental tissue. Placentas from exposed pregnancies demonstrated increased production of inflammatory IL-10, IL-6, and TNF-α in embryo–placental units with NTDs. Inflammatory IL-10, anti-inflammatory IL-10, IL-6, and TNF-α were increased in macrophages isolated from QAC-exposed mothers, and plasma IL-6, and TNF-α were correlated with NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The placenta is the target tissue for ADBAC and DDAC-induced teratogenicity. Both placental inflammation and maternal systemic inflammation are likely involved in QAC-induced NTD formation in mice.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12587467/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145443884","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 Immune Stimulation With Interferon-Gamma Limits Embryonic Valproic Acid Induced Apoptotic Gene Expression","authors":"Daniel Frascella,&nbsp;Murali K. Mallela,&nbsp;Robert Cullen,&nbsp;Terry C. Hrubec","doi":"10.1002/bdr2.2541","DOIUrl":"10.1002/bdr2.2541","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Neural tube defects (NTDs) are developmental malformations affecting 1300 newborns in the United States each year. Valproic acid (VA), a drug to treat seizures and mood disorders, can cause NTDs. Apoptosis is increased in the developing neural tubes (NTs) of embryos exposed to VA thereby identifying a possible mechanism for NTD formation. Numerous studies show that maternal immune stimulation (MIS) in the periconceptual period reduces birth defects including VA-induced NTDs. It is hypothesized that immunoregulatory cytokines may normalize the dysregulated apoptosis. This study examined maternal cytokine production and embryonic apoptotic gene expression following prebreeding stimulation with interferon-γ (IFN-γ) and gestational VA exposure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Concentrations of granulocyte monocyte colony stimulating factor (GM-CSF), IFN-γ, interleukin-6 (IL-6), interleukin-10 (IL-10), and tumor necrosis factor-α (TNFα) were determined in VA + IFN-γ-treated pregnant mice. Expression of pro-apoptotic and antiapoptotic pathway genes was determined in VA and VA + IFN-γ exposed embryos.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>NTDs decreased from 45.3% to 21.2% per litter with MIS. MIS altered the profiles of GM-CSF and IFN-γ throughout pregnancy and altered the profiles of GM-CSF, IL-6, and IL-10 over the time of NT closure. Pro-apoptotic genes were upregulated, and anti-apoptotic genes were downregulated in VA-exposed embryonic heads with open or closed NTs. Gene expression was normalized with VA + IFN-γ in embryonic heads with closed NTs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This study identified GM-CSF and IFN-γ as possible effectors of MIS and specifically GM-CSF, IL-6, and IL-10 in preventing NTDs. MIS normalized apoptotic gene expression in embryos with closed NTs identifying a possible molecular mechanism for the prevention of VA-induced NTDs.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-11-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2541","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145450906","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":"A Case Report: Co-Occurrence of TNRC6B Gene Variant and Xq28 Microdeletion Syndrome With Comprehensive Literature Review","authors":"Ying Deng,&nbsp;Chenchen Bu,&nbsp;Zhuoma Basang,&nbsp;Quzhen Zhaxi","doi":"10.1002/bdr2.2521","DOIUrl":"https://doi.org/10.1002/bdr2.2521","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>TNRC6B encodes a protein crucial for RNA silencing, and heterozygous variants of TNRC6B have been associated with developmental delay/intellectual disability, speech and language delay, fine and motor delay, and a range of neurobehavioral phenotypes, including autism and attention deficit and hyperactivity disorder (ADHD). Rett syndrome (RTT) is a neurodevelopmental disorder primarily affecting girls, characterized by loss of acquired speech and motor skills, repetitive hand movements, breathing irregularities, seizures, and is a prevalent cause of intellectual disability in females. Most RTT cases are due to pathogenic variants in the MECP2 gene located at Xq28, encoding methyl-CpG binding protein 2 (MeCP2). The phenotypic spectrum of heterozygous TNRC6B variants combined with MECP2 gene deletion has not been well described.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Presentation</h3>\u0000 \u0000 <p>A 17-month-old Chinese female patient with severe malnutrition and global developmental delay (GDD) was enrolled in this study. Whole-exome sequencing was conducted, and clinical data were obtained retrospectively from medical history and formal neuropsychological evaluation. The heterozygous TNRC6B variants (c.1409A &gt; G; p.Asp470Ser) and a 4.066 Kb intragenic deletion of Xq28 encompassing the MECP2 gene were found. This expands the genetic spectrum of TNRC6B variants. The patient exhibited GDD, behavioral abnormalities, stunting, underweight, microcephaly and facial dysmorphism, including low-set ears, wide-set eyes, upslanting lateral canthi, underbite and hypertonia. The patient has received feeding guidance and rehabilitation training, and is currently under regular follow-up. This case broadens the phenotypic spectrum associated with TNRC6B variants and MECP2 gene deletion.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This is the first report of a Xq28 microdeletion encompassing the MECP2 gene combined with heterozygous variants in TNRC6B. Our study expands the genotypic and phenotypic spectrum of TNRC6B deficiency syndrome and Rett syndrome. Our findings suggest that patients with TNRC6B and MECP2 gene deficiencies may experience more severe developmental delay and malnutrition.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145371872","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":"Combined Maternal and Paternal Low-Dose N-Nitrosodimethylamine Exposure: Maternal Alterations and Developmental Toxicity in Rats","authors":"Julia Tavares Alves,&nbsp;Luara Magalhães,&nbsp;Julia Vitoria Francisco de Aquino,&nbsp;Otávio Galassi Vitale,&nbsp;Giovanna Ferrari Rosalem,&nbsp;Giovanna Kugel Marraschi,&nbsp;Reggina Lorena Mellado Castro,&nbsp;Sara Tawany Caetano dos Santos,&nbsp;Livia Trippe Nagaoka,&nbsp;Julia Stein,&nbsp;Hamilton Hisano,&nbsp;Bárbara Campos Jorge,&nbsp;Arielle Cristina Arena","doi":"10.1002/bdr2.2540","DOIUrl":"10.1002/bdr2.2540","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>N-Nitrosodimethylamine (NDMA) is an organic xenobiotic compound and a well-established mutagen and carcinogen. Its potential to cause reproductive and developmental toxicity at low, relevant doses is unclear. This study evaluated the effects of combined maternal and paternal NDMA exposure, both preconceptionally and during gestation, on maternal health and embryotoxicity in rats.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Rats were treated orally with vehicle (5 males, 10 females) or NDMA (7.2 ng/kg/day; 5 males, 12 females). Both sexes were exposed from postnatal day (PND) 60 to 90 (31 days); females continued during mating, and pregnant females from gestational day (GD) 0 to 20. On GD 20, dams were euthanized for hemato-biochemical and embryofetal evaluations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Clinical toxicity, fertility indices, and embryofetal parameters did not differ between groups. In NDMA-exposed dams, hematological analyses showed a significant reduction in lymphocyte percentages, an increase in monocyte counts, and a decrease in basophils, accompanied by elevated serum urea levels and reduced alanine aminotransferase (ALT) activity. Placental analyses were comparable between groups. Female fetuses exhibited a reduction in appropriate for gestational age (AGA) classifications with a concomitant increase in large for gestational age (LGA), while in males a borderline increase in placental efficiency was detected. No significant external, visceral, or encephalic malformations were observed. However, skeletal analysis revealed a significantly increased incidence of supernumerary ribs in NDMA-exposed fetuses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Combined maternal and paternal exposure to low-dose NDMA produced measurable adverse effects on maternal health and specific aspects of fetal development, highlighting its potential risk even at environmentally relevant exposure levels.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2540","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343317","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":"Impact of TMPRSS6 Genetic Variants on Maternal Iron Status in Pregnancy: A Systematic Review","authors":"Rezky Fauzan,&nbsp; Defrin,&nbsp; Susmiati,&nbsp;Nur Indrawaty Lipoeto","doi":"10.1002/bdr2.2538","DOIUrl":"10.1002/bdr2.2538","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>The TMPRSS6 gene encodes matriptase-2, a serine protease that negatively regulates hepcidin and thus governs systemic iron homeostasis. Common polymorphisms have been implicated in altered iron indices in normal populations. To date, no systematic review has comprehensively assessed the impact of TMPRSS6 on maternal iron status and pregnancy outcomes. This review aims to elucidate the molecular mechanisms and clinical impact of TMPRSS6 variants on maternal iron status and obstetric complications.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic review was conducted in accordance with PRISMA guidelines. English-language articles published between 2015 and 2024 were retrieved from PubMed, Crossref, OpenAlex, and Google Scholar. Eligible studies assessed TMPRSS6 genotypes in relation to iron biomarkers and obstetric complications. Seven studies met inclusion criteria.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 1243 articles identified, seven studies (<i>n</i> = 1094 pregnant participants) met inclusion criteria. The rs855791 T-allele and rs4820268 G-allele consistently correlated with lower serum iron, reduced transferrin saturation, and elevated unsaturated iron-binding capacity. These variants increased risks of iron-deficiency anemia, gestational diabetes mellitus, and preeclampsia. Functional analyses indicated that altered matriptase-2 activity leads to inappropriately high hepcidin, impaired dietary iron absorption, and downstream metabolic disturbances.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>TMPRSS6 polymorphisms play a central role in disrupting iron regulation and contribute to obstetric complications. Incorporating TMPRSS6 genotyping into prenatal care may facilitate personalized risk stratification and optimized iron supplementation strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145298418","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":"Electrostimulation in Children With Neurogenic Bladder due to Spina Bifida: Systematic Review and Meta-Analysis","authors":"Paula Orduña-Martínez,&nbsp;David Hernández-Guillén,&nbsp;José-María Blasco,&nbsp;Sara Cortés-Amador,&nbsp;Mercè Balasch-Bernat,&nbsp;Laura Fuentes-Aparicio","doi":"10.1002/bdr2.2534","DOIUrl":"10.1002/bdr2.2534","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This systematic review and meta-analysis aimed to evaluate the efficacy of electrotherapy techniques in the treatment of neurogenic bladder in children with spina bifida.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A systematic search was conducted in MEDLINE, EMBASE, Web of Science, PEDro, and <i>Biblioteca Virtual</i> databases for studies published up to February 2025. Eligible studies included children aged 3–21 with neurogenic bladder due to spina bifida who underwent invasive or non-invasive electrotherapy. The outcomes included were bladder compliance, while secondary outcomes assessed cystometric capacity, detrusor pressure, detrusor leak point pressure, and lower urinary tract symptoms. Methodological quality was assessed using the PEDro scale and the Cochrane Risk of Bias Tool for randomized studies, and the ROBINS-I tool for non-randomized studies. This study was prospectively registered in the Prospero database (CRD-42021242845).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>9 studies involving 303 participants (180 receiving electrotherapy and 123 controls) were included, of which four were eligible for meta-analysis. Electrotherapy showed a moderate increase in bladder compliance (+2 mL/cmH2O, 95% CI: 0–5) and maximum cystometric capacity (+73 mL, 95% CI: 56–90). Detrusor pressure decreased (−22 cmH2O, 95% CI: 7–38), while detrusor leak point pressure increased (+13 cmH2O, 95% CI: 2–25). Lower urinary tract symptoms showed inconsistent improvements. The certainty of evidence was low to very low for most outcomes due to study heterogeneity and methodological limitations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Electrotherapy appears to improve bladder compliance, cystometric capacity, and detrusor pressure in children with neurogenic bladder due to spina bifida. However, due to the variability in study quality and intervention parameters, further high-quality research is needed to confirm its clinical efficacy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12519759/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145285608","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":"Risks of Birth Defects Following In Utero Exposures to Unregulated Brominated Haloacetic Acids","authors":"John A. Kaufman,&nbsp;J. Michael Wright","doi":"10.1002/bdr2.2537","DOIUrl":"10.1002/bdr2.2537","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Haloacetic acids (HAAs) are water disinfection byproducts (DBPs) regulated as a mixture of five species (HAA5) in the United States and Canada. To date, two brominated HAAs (BrHAAs) in HAA5 (monobromoacetic acid [MBAA], dibromoacetic acid [DBAA]) have been associated with birth defects in some epidemiologic studies, but the other four unregulated BrHAAs remain understudied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed registry-based case–control data on 16 birth defect phenotypes in relation to temporally weighted first-trimester exposures to the four unregulated BrHAAs (tribromoacetic acid [TBAA], bromochloroacetic acid [BCAA], bromodichloroacetic acid [BDCAA], chlorodibromoacetic acid [CDBAA]) and the sum of all six BrHAAs (HAA6 = TBAA + BCAA + BDCAA + CDBAA + MBAA + DBAA). We matched cases to controls 1:10 on the week of conception and estimated adjusted odds ratios (aORs) via conditional logistic regression.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observed some elevated aORs for dichotomized BrHAA exposures with certain outcomes, such as cleft palate alone (BDCAA aOR = 1.75 [95% confidence interval: 1.15, 2.66]), ventricular septal defects (BDCAA aOR = 1.28 [0.97, 1.68]), tetralogy of Fallot (BDCAA OR = 1.57 [0.93, 2.64]), and obstructive genitourinary defects (CDBAA aOR = 1.65 [1.07, 2.53]), and reduced aORs for hypospadias (e.g., BCAA aOR = 0.58 [0.40, 0.84]). Most other associations were closer to the null, and many lacked precision.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our observations warrant further investigation given their novelty and the paucity of data on health impacts of prenatal BrHAA exposures overall; ours is the first epidemiological study to investigate most of these exposure-outcome relationships. Future work would benefit from a longer study period to ascertain additional birth defect cases and more direct exposure assessment in areas served by water systems with higher bromide levels.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12516800/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278998","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":"Prevalence and Risk Factors of Pediatric Neurosurgical Congenital Anomalies at Mbeya Zonal Referral Hospital, Tanzania","authors":"Erasto Ndomba,&nbsp;Donath Damian","doi":"10.1002/bdr2.2536","DOIUrl":"https://doi.org/10.1002/bdr2.2536","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital neurosurgical anomalies, such as neural tube defects (NTDs) and hydrocephalus, are prevalent central nervous system disorders. This study investigates their prevalence and factors statistically associated with their occurrence.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective cross-sectional study at Mbeya Zonal Referral Hospital (MZRH) from May 2023 to April 2024 included 978 patients. Data from 145 children with CNS anomalies were analyzed using Microsoft Excel and STATA-15, with binary logistic regression to identify potential risk factors associated with these conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of congenital neurosurgical conditions was 14.3% (145/978). Hydrocephalus occurred in 8.3% (81/978), NTDs in 5.01% (49/978), Chiari malformations in 0.92% (9/978), and encephalocele in 0.61% (6/978). Logistic regression found that folate deficiency associated with delayed antenatal care was linked to a higher likelihood of NTDs and hydrocephalus (OR 2.56, <i>p</i> ≤ 0.005). Other factors showing statistical associations included prematurity, low birth weight, pregnancy infections, unprescribed drug use, malnutrition, gestational diabetes, and hypertension.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Key factors statistically associated with congenital CNS anomalies in this cohort include low birth weight, prematurity, inadequate folic acid intake, gestational diabetes, maternal hypertension, and unprescribed drug use. These findings highlight the importance of early prenatal care and maternal health optimization to potentially reduce the occurrence of these anomalies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 10","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-10-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145273027","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}