Birth Defects Research最新文献_第8页

Microarray Application in Newborns With Multiple Congenital Anomalies: Genotype–Phenotype Correlation 微阵列在新生儿多重先天性异常中的应用：基因型-表型相关性

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-07-12 DOI: 10.1002/bdr2.2509

Ramazan Keçeci, Hayriye Nermin Keçeci, Müşerref Başdemirci

Background

Microarray is considered the first step in the diagnostic test in patients with multiple congenital anomalies (MCA). This technique can detect small copy number variations (CNVs) in DNA and help to understand the genetic causes in newborns.

Materials & Methods

The present study investigated a group of 63 newborns with MCA during the study period. Microarray analysis was performed on newborns with MCA after excluding those with examination results suggesting a recognizable numerical chromosome anomaly and a history of teratogenicity. The observed CNVs were examined in databases, pathogenicity evaluation was performed, and the variations were compared with the results reported in the patient database.

Results

A total of 11 of 50 patients (22%) included in the study had 13 CNVs. Variations in the literature were observed in nine of the previously described cases, while the other four CNVs were described for the first time. Among the detected CNVs, nine were pathogenic, one was likely pathogenic, and three were of uncertain clinical significance (VOUS). The variation in four patients was de novo, two were paternally inherited, and one was maternally inherited. All 11 patients with CNVs had congenital heart defects, 9 had craniofacial dysmorphism, 8 had extremity anomalies, 4 had hydronephrosis, 3 had cleft lip and/or palate, 2 had proximal hypospadias, and other rare congenital anomalies.

Conclusion

Microarray application in newborns with MCA is of great importance in terms of clinical guidance and genetic counseling. With the increase in relevant studies, the interpretation of previously unidentified CNVs with clinical results will contribute to patient management.

微阵列被认为是诊断多发性先天性异常（MCA）患者的第一步。这项技术可以检测DNA中的小拷贝数变异（CNVs），并有助于了解新生儿的遗传原因。材料,方法在研究期间对63例新生儿MCA进行调查。在排除检查结果显示可识别的数字染色体异常和致畸史的MCA新生儿后，对其进行微阵列分析。在数据库中检查观察到的CNVs，进行致病性评估，并将变异与患者数据库中报告的结果进行比较。结果纳入研究的50例患者中有11例（22%）有13个CNVs。在先前描述的9例病例中观察到文献中的差异，而其他4例CNVs是首次描述。在检测到的CNVs中，9个为致病性，1个可能致病性，3个临床意义不确定（VOUS）。4例患者的变异是从头开始的，2例是父系遗传，1例是母系遗传。11例CNVs患者均有先天性心脏缺陷，9例颅面畸形，8例四肢畸形，4例肾积水，3例唇裂和/或腭裂，2例近端尿道下裂，以及其他罕见的先天性异常。结论微阵列技术应用于新生儿MCA的临床指导和遗传咨询具有重要意义。随着相关研究的增加，对先前未识别的CNVs进行临床结果解释将有助于患者管理。

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引用次数: 0

Correction to Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12 修正食品强化在预防神经管缺陷方面的无效，原因是监管促进叶酸和维生素B12水平不足

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-07-11 DOI: 10.1002/bdr2.2510

Kancherla, V., P. Bhalla, S. K. Dutta, R. Mehta, R. M. Vora, and S. Karmarkar. 2025. “Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12.” Birth Defects Research 117, no. 7: e2498. https://doi.org/10.1002/bdr2.2498.

In the originally published article, an incorrect unit of measurement was given in Section 1. The corrected unit is given below. This has been corrected in the online version of the article.

Incorrect

The 2020 RDA proposed for vitamin B12 ranges between 1.2 and 2.5 mg for non-pregnant women, children, and men (FSSAI 2021).

Correct

The 2020 RDA proposed for vitamin B12 ranges between 1.2 and 2.5 mcg for non-pregnant women, children, and men (FSSAI 2021).

We apologize for this error.

Kancherla， V.， P. Bhalla， S. K. Dutta， R. Mehta， R. M. Vora和S. Karmarkar, 2025。“在印度，由于监管规定导致叶酸和维生素B12水平不足，食品强化在预防神经管缺陷方面无效。”出生缺陷研究117，no。7: e2498。https://doi.org/10.1002/bdr2.2498.In在最初发表的文章中，第1节给出了一个错误的度量单位。修正后的单位如下所示。这在文章的在线版本中已被更正。对于非孕妇、儿童和男性，2020年推荐的维生素B12日摄食量在1.2 - 2.5毫克之间（FSSAI 2021）。对非孕妇、儿童和男性，2020年推荐的维生素B12日摄食量在1.2至2.5微克之间（FSSAI 2021）。我们为这个错误道歉。

引用次数: 0

Functional Annotation of De Novo Variants Found Near GWAS Loci Associated With Cleft Lip With or Without Cleft Palate 唇裂伴或不伴腭裂的GWAS基因座附近新生变异的功能注释

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-07-09 DOI: 10.1002/bdr2.2499

Sarah W. Curtis, Laura E. Cook, Kitt Paraiso, Axel Visel, Justin L. Cotney, Jeffrey C. Murray, Terri H. Beaty, Mary L. Marazita, Jenna C. Carlson, Elizabeth J. Leslie-Clarkson

Background

Orofacial clefts (OFCs) are the most common craniofacial birth defects, affecting 1 in 700 births, and have a strong genetic basis with a high recurrence risk within families.

Aims

While many of the previous studies have associated common, noncoding genetic loci with OFCs, previous studies on de novo variants (DNVs) in OFC cases have focused on coding variants that could have a functional impact on protein structure, and the contribution of noncoding DNVs to the formation of OFCs has largely been ignored and is not well understood.

Materials and Methods

We reanalyzed an existing dataset of DNVs from 1409 trios with OFCs that had undergone targeted sequencing of known OFC-associated loci. We then annotated these DNVs with information from datasets of predicted epigenetic function during human craniofacial development.

Results

Of the 66 DNVs called in the targeted regions in this study, 17 (25.7%) were within a predicted enhancer or promoter region. Two DNVs fell within the same enhancer region (hs1617), which is more than expected by chance (p = 0.0017). The sequence changes caused by these hs1617 DNVs are predicted to create binding sites not seen in the reference sequence for transcription factors PAX6 and ZBTB7A and to disrupt binding sites for STAT1 and STAT3.

Discussion

The hs1617 enhancer region is within the same topologically associated domain as HHAT, SERTAD4, and IRF6, all of which are involved in craniofacial development. All three genes are highly expressed in human neural crest cells. Knockout mice for Hhat and Irf6 have abnormal embryonic development including a cleft palate, and variants in and around IRF6 are associated with nonsyndromic and syndromic forms of OFCs in humans.

Conclusion

Taken together, this suggests that noncoding DNVs contribute to the genetic architecture of OFCs, with an excess of DNVs in OFC trios in enhancer regions near known OFC-associated genes. Overall, this adds to our understanding of the genetic mechanisms that underlie OFC formation.

Orofacial cleft （OFCs）是最常见的颅面出生缺陷，每700个新生儿中就有1个受影响，并且具有很强的遗传基础，在家庭中具有很高的复发风险。虽然之前的许多研究都将常见的非编码基因位点与OFCs联系起来，但之前关于OFC病例中从头变异体（dnv）的研究主要集中在可能对蛋白质结构产生功能影响的编码变异体上，而非编码dnv对OFCs形成的贡献在很大程度上被忽视了，也没有得到很好的理解。材料和方法我们重新分析了现有的1409组带有ofc的dnv数据集，这些数据集已经对已知的ofc相关位点进行了靶向测序。然后，我们用来自人类颅面发育过程中预测的表观遗传功能数据集的信息对这些dnv进行注释。结果在本研究的66个dnv中，17个（25.7%）在预测的增强子或启动子区域内。两个dnv落在同一增强子区域（hs1617），概率大于预期（p = 0.0017）。预计这些hs1617 dnv引起的序列变化会产生转录因子PAX6和ZBTB7A参考序列中未见的结合位点，并破坏STAT1和STAT3的结合位点。hs1617增强子区域与HHAT、SERTAD4和IRF6处于相同的拓扑相关结构域，它们都参与颅面发育。这三种基因都在人类神经嵴细胞中高度表达。Hhat和Irf6基因敲除小鼠的胚胎发育异常，包括腭裂，Irf6及其周围的变异与人类非综合征型和综合征型OFCs有关。综上所述，这表明非编码dnv有助于OFC的遗传结构，在已知OFC相关基因附近增强子区域的OFC三联体中，dnv过量。总的来说，这增加了我们对OFC形成的遗传机制的理解。

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引用次数: 0

Prenatal Exposure to Methamphetamine and Its Association With Birth Outcomes: A Meta-Analysis 产前暴露于甲基苯丙胺及其与出生结局的关系：一项荟萃分析

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-07-08 DOI: 10.1002/bdr2.2488

Nima Rastegar-Pouyani, Fatemeh Fakhari, Armineh Rezagholi Lalani, Emad Jafarzadeh, Reza Zafari, Nader Rahimi, Ahmad Habibian Sezavar, Seyed Nasser Ostad

Purpose

The growing prevalence of methamphetamine abuse has been regarded as a matter of great concern due to its damaging impact on public health worldwide. Our study aimed to perform a systematic review of the literature with meta-analysis to evaluate the association between prenatal methamphetamine exposure, Preterm Birth (PTB) Low Birth Weight (LBW), and being Small for Gestational Age (SGA). Later on, we investigated the association between prenatal methamphetamine use and the aforementioned birth defects.

Methods

We conducted a systematic search of English-language articles in Web of Science, Scopus, and PubMed from inception to December 24, 2021, identifying 1223 observational studies. After removing duplicates, 911 articles remained for title and abstract screening, of which 868 were excluded. Following a full-text review of 43 studies, 35 were excluded due to insufficient data, leaving eight studies for meta-analysis. Data were analyzed using Stata 15.0, with Odds Ratio (OR) (95% Confidence Intervals (CI)) as effect sizes. Subgroup analysis was performed by sample type (urine, meconium, and …), and heterogeneity was assessed using the Chi-square test (I² more than 50% was considered heterogenic), applying fixed- or random-effects models accordingly. Publication bias was evaluated via Egger's test and funnel plots, and sensitivity analysis was conducted to assess result robustness.

Results

Prenatal exposure to methamphetamine was found to be associated with PTB (OR 2.64; 95% CI 1.89–3.70), LBW (OR 2.83; 95% CI 1.09–7.38), and SGA (OR 1.44; 95% CI 1.04–1.99).

Conclusion

Our meta-analysis shows a substantial association between prenatal exposure to methamphetamine and PTB, LBW, and being SGA.

甲基安非他明滥用现象日益普遍，因其对全世界公众健康的破坏性影响而被视为一个令人极为关切的问题。本研究旨在通过荟萃分析对文献进行系统回顾，以评估产前甲基苯丙胺暴露与早产（PTB）、低出生体重（LBW）和小胎龄（SGA）之间的关系。后来，我们调查了产前使用甲基苯丙胺和上述出生缺陷之间的关系。方法系统检索Web of Science、Scopus和PubMed网站从创办到2021年12月24日的英文文章，共1223篇观察性研究。去除重复后，仍有911篇文章进行标题和摘要筛选，其中868篇被排除。在对43项研究进行全文综述后，由于数据不足，35项研究被排除，剩下8项研究用于荟萃分析。使用Stata 15.0分析数据，以优势比（OR）（95%置信区间（CI））作为效应量。按样本类型（尿、胎便和…）进行亚组分析，并使用卡方检验评估异质性（I2大于50%被认为是异质性），相应应用固定效应或随机效应模型。通过Egger检验和漏斗图评估发表偏倚，并进行敏感性分析以评估结果的稳健性。结果产前暴露于甲基苯丙胺与PTB相关(OR 2.64；95% ci 1.89-3.70)，体重(或2.83；95% CI 1.09-7.38)和SGA (OR 1.44；95% ci 1.04-1.99)。结论：我们的荟萃分析显示，产前暴露于甲基苯丙胺与PTB、LBW和SGA之间存在实质性关联。

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引用次数: 0

Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12 在印度，由于叶酸和维生素B12水平不足，食品强化在预防神经管缺陷方面无效

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-28 DOI: 10.1002/bdr2.2498

Vijaya Kancherla, Parveen Bhalla, Subrata Kumar Dutta, Rajesh Mehta, Ravindra M. Vora, Santosh Karmarkar

Background

There is a high prevalence of neural tube defects (NTDs) and nutritional anemias that increase the risk of birth defects in India. The current staple food fortification regulations for folic acid and vitamin B12 are ineffective in the country. We provide an evidence-based viewpoint urging for WHO-recommended levels of fortificants (i.e., 1300 mcg of folic acid and 10 mcg of vitamin B12 per kilogram of wheat flour or rice) to be included in the regulation.

Methods

Micronutrient fortified foods are being distributed through various governmental safety-net programs under the National Food Security Act in India. Packaged flour produced by some private companies is fortified.

Results

Food fortification regulation, recommended in 2018 by the Food Safety and Standards Authority of India, allows adding 75–125 micrograms (mcg) of folic acid per kilogram (kg), and 0.75–1.25 mcg of vitamin B12 per kg, as fortificants in wheat flour or rice. These levels are 90% lower than what WHO recommends based on daily consumption of staple foods in India.

Conclusion

Re-setting fortification standards for folic acid and vitamin B12 to levels recommended by the WHO in India will avert thousands of NTD-associated pregnancies each year, as well as morbidity and mortality associated with them.

背景在印度，神经管缺陷（NTDs）和营养性贫血的患病率很高，这增加了出生缺陷的风险。目前的主食叶酸和维生素B12强化规定在国内是无效的。我们提供了一个基于证据的观点，敦促将世卫组织推荐的强化剂水平（即每公斤小麦粉或大米1300微克叶酸和10微克维生素B12）纳入该法规。方法根据印度《国家食品安全法》，通过各种政府安全网项目分发微量营养素强化食品。一些私人公司生产的包装面粉是强化的。印度食品安全和标准局于2018年推荐的食品强化法规允许在小麦粉或大米中每公斤添加75-125微克的叶酸和0.75-1.25微克的维生素B12作为强化剂。这些水平比世卫组织建议的印度主食每日消费量低90%。在印度，将叶酸和维生素B12的强化标准重新设定到世界卫生组织建议的水平，将每年避免数千例与热带病相关的怀孕，以及与之相关的发病率和死亡率。

{"title":"Food Fortification Ineffective in Preventing Neural Tube Defects in India due to Regulation Promoting Inadequate Levels of Folic Acid and Vitamin B12","authors":"Vijaya Kancherla, Parveen Bhalla, Subrata Kumar Dutta, Rajesh Mehta, Ravindra M. Vora, Santosh Karmarkar","doi":"10.1002/bdr2.2498","DOIUrl":"https://doi.org/10.1002/bdr2.2498","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There is a high prevalence of neural tube defects (NTDs) and nutritional anemias that increase the risk of birth defects in India. The current staple food fortification regulations for folic acid and vitamin B12 are ineffective in the country. We provide an evidence-based viewpoint urging for WHO-recommended levels of fortificants (i.e., 1300 mcg of folic acid and 10 mcg of vitamin B12 per kilogram of wheat flour or rice) to be included in the regulation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Micronutrient fortified foods are being distributed through various governmental safety-net programs under the National Food Security Act in India. Packaged flour produced by some private companies is fortified.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Food fortification regulation, recommended in 2018 by the Food Safety and Standards Authority of India, allows adding 75–125 micrograms (mcg) of folic acid per kilogram (kg), and 0.75–1.25 mcg of vitamin B12 per kg, as fortificants in wheat flour or rice. These levels are 90% lower than what WHO recommends based on daily consumption of staple foods in India.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Re-setting fortification standards for folic acid and vitamin B12 to levels recommended by the WHO in India will avert thousands of NTD-associated pregnancies each year, as well as morbidity and mortality associated with them.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 7","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144503109","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}

引用次数: 0

Adverse Events After COVID-19 Vaccination Between Pregnant and Nonpregnant Women 孕妇和非孕妇接种COVID-19疫苗后的不良事件

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-27 DOI: 10.1002/bdr2.2505

Hinpetch Daungsupawong, Viroj Wiwanitkit

引用次数: 0

Assessing the Readability, Credibility, and Accuracy of Online Vaccine Information for Pregnant and Lactating Individuals: A Cross-Platform Analysis 评估孕妇和哺乳期个体在线疫苗信息的可读性、可信度和准确性：一项跨平台分析

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-27 DOI: 10.1002/bdr2.2500

Ayhan Ceri

Background

Pregnant and lactating individuals frequently rely on online sources for vaccine information. However, the readability, credibility, and accuracy of such content vary widely, potentially influencing vaccine hesitancy. This study evaluates the accessibility and reliability of online vaccine information across different digital platforms.

Methods

A cross-sectional content analysis was conducted on vaccine-related content published between 2018 and 2022. Data were collected from official health websites (e.g., WHO, CDC), social media (Twitter, Facebook), blogs, and parenting forums. Readability was assessed using the Flesch–Kincaid (FK) and SMOG indices, while credibility was evaluated using the DISCERN tool and HONcode certification. Accuracy was determined by comparing claims against scientific evidence from authoritative health organizations. Statistical analyses, including one-way ANOVA and chi-square tests, were performed to examine readability differences and misinformation prevalence across platforms.

Results

Official health websites had the highest readability complexity (average FK grade level: 11.8 ± 1.2), while social media content was the most accessible (average FK grade level: 7.8 ± 1.0). However, social media also exhibited the highest misinformation prevalence (38%), whereas official sources maintained near-perfect accuracy (98% compliance with scientific evidence). Blogs and forums demonstrated moderate readability (FK grade level: 9.5 ± 1.4 and 8.7 ± 1.1, respectively) but varied in credibility (DISCERN scores: 40–50/80). Thematic analysis revealed dominant misinformation trends, including fear-based narratives (52% of misinformation cases) and scientific distortions (29%). Accessibility barriers were also identified, with only 10% of sources providing multilingual content, and disparities in digital health resources were observed between high- and low-income regions.

Conclusion

This study highlights the trade-off between readability and credibility in online vaccine information. While official sources provide reliable content, their complexity may hinder comprehension. Addressing accessibility gaps through plain-language communication and misinformation mitigation strategies is crucial for improving digital health literacy and supporting informed maternal vaccine decision-making.

背景：孕妇和哺乳期的人经常依赖在线来源获取疫苗信息。然而，这些内容的可读性、可信度和准确性差异很大，可能会影响疫苗的犹豫。本研究评估了不同数字平台上在线疫苗信息的可及性和可靠性。方法对2018 - 2022年发表的疫苗相关内容进行横断面内容分析。数据收集自官方卫生网站（如WHO、CDC）、社交媒体（Twitter、Facebook）、博客和育儿论坛。使用Flesch-Kincaid （FK）和SMOG指数评估可读性，而使用DISCERN工具和HONcode认证评估可信度。准确性是通过比较来自权威卫生组织的科学证据来确定的。统计分析包括单因素方差分析和卡方检验，以检验不同平台的可读性差异和错误信息的流行程度。结果官方健康网站的可读性复杂度最高（平均FK等级水平：11.8±1.2），而社交媒体内容的可读性最高（平均FK等级水平：7.8±1.0）。然而，社交媒体也显示出最高的错误信息流行率（38%），而官方来源保持近乎完美的准确性（98%符合科学证据）。博客和论坛表现出中等的可读性（FK等级水平分别为9.5±1.4和8.7±1.1），但可信度有所不同（DISCERN得分：40-50/80）。专题分析揭示了主要的错误信息趋势，包括基于恐惧的叙述（52%的错误信息案例）和科学扭曲（29%）。还发现了可访问性障碍，只有10%的资源提供多语言内容，并且在高收入地区和低收入地区之间观察到数字卫生资源的差异。结论本研究强调了在线疫苗信息的可读性和可信度之间的权衡。虽然官方来源提供了可靠的内容，但它们的复杂性可能会阻碍理解。通过简单的语言沟通和减少错误信息战略解决可及性差距，对于提高数字卫生素养和支持知情的孕产妇疫苗决策至关重要。

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引用次数: 0

Synthesizing Cohort Study Results to Promote Knowledge Transfer of Safety Data Regarding Gestational Antidepressant Exposure and Offspring Congenital Anomalies: A Test of Concept 综合队列研究结果促进妊娠期抗抑郁药物暴露和后代先天性异常安全数据的知识转移：概念检验

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2496

Eydie L. Moses-Kolko, Loreen Straub, Kelly Fung, Krista F. Huybrechts

Background

Health practitioners tend to overestimate potential risks to pregnancy from antidepressant (AD) exposure. Through a literature review focused on major congenital anomalies (MCA) and cardiac anomalies (CA) in association with gestational AD exposure, we evaluated the strength of the available evidence and explored ways to facilitate communication of the evidence to providers and patients.

Methods

In PubMed, we searched English language publications, from January 2013 to March 2024, using search terms for ADs and MCA to identify cohort studies that took steps to minimize confounding and misclassification bias. We extracted study relative risks (RR) for the association between ADs and anomalies. We meta-analyzed the RR and developed a fact box to streamline risk communication.

Results

Of 1308 articles identified, 111 were retained after abstract review, of which 13 met our inclusion criteria. The pooled RR values for any AD were 1.06 (95% CI: 1.00–1.13) for MCA and 1.10 (95% CI: 1.01–1.19) for CA. Results were similar when focusing on individual AD drug classes. Risks were depicted on the absolute scale using an icon array in a fact box.

Conclusions

Reassuring quantitative data regarding prenatal AD exposure and the risk of MCA/CA are buried within a large corpus of publications. The fact box provides a quantitative, visual, and verbal description of absolute risks, based on pooled estimates from cohort studies which took steps to minimize bias. Further study is needed to examine the potential for fact boxes to increase clinician knowledge, clinician confidence to engage in risk discussions with patients, and patient understanding of the risk data.

健康从业者倾向于高估抗抑郁药（AD）暴露对妊娠的潜在风险。通过对主要先天性异常（MCA）和心脏异常（CA）与妊娠AD暴露相关的文献回顾，我们评估了现有证据的强度，并探讨了促进证据与提供者和患者沟通的方法。方法在PubMed中，我们检索了2013年1月至2024年3月期间的英文出版物，使用ADs和MCA的搜索词来识别采取措施减少混淆和误分类偏差的队列研究。我们提取了研究相对危险度（RR）来说明ad与异常之间的关系。我们对RR进行了元分析，并开发了一个事实框来简化风险沟通。结果在1308篇纳入的文献中，摘要综述后保留111篇，其中13篇符合纳入标准。MCA的合并RR值为1.06 (95% CI: 1.00-1.13)， CA的合并RR值为1.10 （95% CI: 1.01-1.19）。当关注单个AD药物类别时，结果相似。在事实框中使用图标数组以绝对规模描述风险。结论关于产前AD暴露和MCA/CA风险的可靠定量数据隐藏在大量出版物中。事实框提供了绝对风险的定量、视觉和口头描述，基于队列研究的汇总估计，这些研究采取了尽量减少偏差的措施。需要进一步的研究来检验事实框的潜力，以增加临床医生的知识，临床医生与患者进行风险讨论的信心，以及患者对风险数据的理解。

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引用次数: 0

Comparing Folic Acid Interventions and Arsenic Reduction Strategies for Neural Tube Defect Prevention in Bangladesh: A Systematic Review and Decision Analysis 比较叶酸干预和砷减少策略神经管缺陷预防在孟加拉国：系统回顾和决策分析

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2494

Chih-Fu Wei, Ernani F. Choma, Xingyan Wang, Carrie G. Wade, Ya Luan Hsiao, Diane Bao, Sudipta K. Mukherjee, David C. Christiani, Marc G. Weisskopf, Liming Liang, Maitreyi Mazumdar

Background

Maternal intake of folic acid prevents most cases of neural tube defects (NTDs), and arsenic exposure may increase NTD risk. In Bangladesh, where arsenic exposures are high, understanding the potential impacts of arsenic reduction and folic acid-based interventions can guide decision-making.

Methods

We conducted a systematic review and meta-analysis to estimate the prevalence of NTDs in Bangladesh. We searched PubMed, Embase, Web of Science, Global Health, and Bangladesh Journals Online and extracted data using standardized forms. We used forest plots and random effects models to estimate the prevalence of all NTDs and spina bifida. Decision analysis used assumptions from the literature to compare expected NTD prevalence under strategies incorporating combinations of folic acid supplementation, fortification, and arsenic filters. Sensitivity analyses aimed to quantify the influence of adherence to supplements on estimates.

Results

Eleven studies were included. Prevalences of NTD and spina bifida were 27.4 and 11.2 per 10,000 births, respectively; however, when estimated from population red blood cell folate concentrations, NTD prevalence was higher in both high arsenic exposure (drinking water ≥ 50 μg/L) and lower arsenic exposure groups (34.3 and 25.3 per 10,000 births, respectively). Folic acid fortification reduced the prevalence of NTDs to 11.1 and 9.1 per 10,000 births among high exposure and low exposure groups, respectively. Arsenic filters provided little marginal benefit. Benefits of supplements equaled those of fortification when adherence to supplements exceeded 90%.

Conclusions

Bangladesh has high rates of NTDs and high arsenic exposures. Folic acid fortification is projected to be the most effective strategy for NTD prevention.

母体摄入叶酸可预防大多数神经管缺陷（NTDs），而砷暴露可能增加神经管缺陷的风险。在砷暴露量高的孟加拉国，了解减少砷和以叶酸为基础的干预措施的潜在影响可以指导决策。方法我们进行了系统回顾和荟萃分析，以估计孟加拉国被忽视热带病的患病率。我们检索了PubMed、Embase、Web of Science、Global Health和Bangladesh Journals Online，并使用标准化表格提取数据。我们使用森林图和随机效应模型来估计所有ntd和脊柱裂的患病率。决策分析使用文献中的假设来比较叶酸补充、强化和砷过滤器组合策略下预期的NTD患病率。敏感性分析旨在量化坚持服用补充剂对估计值的影响。结果纳入11项研究。NTD和脊柱裂的患病率分别为27.4 / 10000和11.2 / 10000；然而，当从人群红细胞叶酸浓度估计时，高砷暴露组（饮用水≥50 μg/L）和低砷暴露组（分别为34.3例和25.3例）的NTD患病率较高。在高暴露组和低暴露组中，叶酸强化将被忽视热带病的患病率分别降低至每1万名新生儿11.1例和9.1例。砷过滤器几乎没有边际效益。当坚持服用补充剂超过90%时，补充剂的益处与强化的益处相等。结论：孟加拉国的被忽视热带病发病率高，砷暴露量高。叶酸强化被认为是预防NTD最有效的策略。

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引用次数: 0

Hearing Loss Profiles in Sporadic and Familial Microtia: Clinical Insights From an Ecuadorian Cohort 散发性和家族性小耳聋的听力损失概况：来自厄瓜多尔队列的临床见解

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-06-24 DOI: 10.1002/bdr2.2501

Fabricio González-Andrade, Fausto Coello, Edwin Andrade, Henry Vásconez

Background

Microtia is a congenital anomaly of the external ear that often leads to hearing loss due to associated auditory canal and middle ear malformations. While right-ear predominance and conductive hearing loss are well-documented, few studies have compared anatomical and audiological differences between sporadic and familial cases, especially in underrepresented populations.

Objective

To compare the clinical, anatomical, and auditory characteristics of patients with sporadic versus familial microtia in an Ecuadorian cohort.

Methods

A cross-sectional study was conducted on 146 patients with microtia, classified as either sporadic or familial. Demographic, clinical, and risk factor data were collected through structured interviews. Audiological evaluations included auditory evoked potentials, otoacoustic emissions, tympanometry, pure-tone audiometry, and speech audiometry, based on patient age and canal patency. Statistical analysis included Mann–Whitney U and Chi-square tests (p < 0.05).

Results

Right-ear involvement was most common (45.45%). Grade 3 microtia was the most prevalent, while Grade 4 was observed exclusively in familial cases. Conductive hearing loss predominated (74.67% left ear, 83.33% right ear). Although no significant differences in hearing loss type or severity were found between groups, familial cases showed a trend toward more severe impairment. Otoacoustic emissions and stapedial reflexes were more frequently absent in right ears. Pure tone perception and speech recognition were also more impaired on the right side.

Conclusion

Microtia is most commonly right-sided and associated with significant conductive hearing loss. Familial cases may present with more severe features. Early diagnosis and intervention are essential to mitigate developmental consequences, particularly in resource-limited settings.

背景：小耳症是一种外耳先天性异常，常因相关的耳道和中耳畸形而导致听力损失。虽然右耳显性和传导性听力损失有充分的文献记载，但很少有研究比较散发性和家族性病例之间的解剖学和听力学差异，特别是在代表性不足的人群中。目的比较厄瓜多尔一群散发性和家族性小耳畸形患者的临床、解剖学和听觉特征。方法对146例散发性和家族性小耳畸形患者进行横断面研究。通过结构化访谈收集人口统计、临床和风险因素数据。听力学评估包括听觉诱发电位、耳声发射、鼓室测量、纯音测听和语音测听，基于患者年龄和耳管通畅程度。统计学分析采用Mann-Whitney U检验和卡方检验（p < 0.05）。结果右耳受累发生率最高（45.45%）。3级是最普遍的，而4级仅在家族病例中观察到。传导性听力损失占多数（左耳74.67%，右耳83.33%）。虽然听力损失的类型和严重程度在两组之间没有显著差异，但家族性病例显示出更严重的损害趋势。耳声发射和镫骨反射在右耳更为常见。右侧的纯音感知和语音识别也受到了更大的损害。结论小耳聋最常见于右侧，并伴有传导性听力损失。家族性病例可能表现出更严重的特征。早期诊断和干预对于减轻发展后果至关重要，特别是在资源有限的环境中。

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