Birth Defects Research最新文献_第4页

Associations Between Exposure to Extreme Ambient Heat During Periconception and Gastroschisis in Georgia, USA: A Population-Based, Matched Case–Control Study 在美国乔治亚州，孕周暴露于极端环境高温与腹裂之间的关系：一项基于人群的匹配病例对照研究。

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-17 DOI: 10.1002/bdr2.2531

Sarah LaPointe, Xiaping Zheng, Vijaya Kancherla, Howard H. Chang, Audrey J. Gaskins

Introduction

Epidemiologic evidence on extreme ambient temperature exposures and gastroschisis is limited and conflicting.

Methods

This case–control study included records for liveborn infants in the state of Georgia, USA from 2008 to 2017. Cases included any live births with isolated gastroschisis matched 1:4 to controls free of birth defects based on county of residence and maternal age. Exposure to extreme ambient heat was defined using the 95th percentile of the county-level climatological temperature averages during periconception. Multivariable conditional logistic regression models estimated the adjusted odds ratios (aORs) and 95% confidence intervals (95% CI) for the associations between extreme ambient heat exposure during periconception and isolated gastroschisis.

Results

There were 191 cases of isolated gastroschisis and 764 controls in our study. Compared to no days of extreme heat exposure in the periconception period, exposure to 1–3, 4–7, and ≥ 8 days of extreme apparent temperatures was associated with 19% (aOR = 1.19; 95% CI 1.03, 1.38), 42% (aOR = 1.42; 95% CI 1.06, 1.91), and 70% (aOR = 1.70; 95% CI 1.09, 2.63) higher odds of isolated gastroschisis, respectively. Exposure to two or more and three or more consecutive days of extreme apparent temperature was associated with 58% (aOR = 1.58; 95% CI 1.08, 2.30) and 66% (aOR = 1.66; 95% CI 1.14, 2.41) higher odds of isolated gastroschisis, respectively.

Conclusions

We observed a positive association between exposure to extreme ambient heat and the odds of isolated gastroschisis. These findings highlight the need for more research on these associations and potential interventions to protect mothers and babies.

关于极端环境温度暴露和胃裂的流行病学证据有限且相互矛盾。方法：本病例对照研究纳入了2008年至2017年美国佐治亚州活产婴儿的记录。病例包括根据居住县和产妇年龄与无出生缺陷的对照组匹配1:4的孤立性腹裂活产婴儿。暴露于极端环境高温的定义是使用围孕期县级气候温度平均值的第95个百分位数。多变量条件logistic回归模型估计了围孕期极端环境热暴露与孤立性胃裂之间的校正优势比（aORs）和95%置信区间（95% CI）。结果：本组分离性腹裂191例，对照组764例。与感觉期无极端高温暴露天数相比，暴露于极端表面温度1-3、4-7和≥8天的患儿发生孤立性胃裂的几率分别增加19% （aOR = 1.19; 95% CI 1.03, 1.38）、42% （aOR = 1.42; 95% CI 1.06, 1.91）和70% （aOR = 1.70; 95% CI 1.09, 2.63）。暴露于连续两天或更长时间的极端表面温度和连续三天或更长时间的极端表面温度分别与58% （aOR = 1.58; 95% CI 1.08, 2.30）和66% （aOR = 1.66; 95% CI 1.14, 2.41）孤立性胃裂的几率增加相关。结论：我们观察到暴露于极端环境高温与孤立性胃裂的几率呈正相关。这些发现强调需要对这些关联和潜在的干预措施进行更多的研究，以保护母亲和婴儿。

{"title":"Associations Between Exposure to Extreme Ambient Heat During Periconception and Gastroschisis in Georgia, USA: A Population-Based, Matched Case–Control Study","authors":"Sarah LaPointe, Xiaping Zheng, Vijaya Kancherla, Howard H. Chang, Audrey J. Gaskins","doi":"10.1002/bdr2.2531","DOIUrl":"10.1002/bdr2.2531","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Epidemiologic evidence on extreme ambient temperature exposures and gastroschisis is limited and conflicting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This case–control study included records for liveborn infants in the state of Georgia, USA from 2008 to 2017. Cases included any live births with isolated gastroschisis matched 1:4 to controls free of birth defects based on county of residence and maternal age. Exposure to extreme ambient heat was defined using the 95th percentile of the county-level climatological temperature averages during periconception. Multivariable conditional logistic regression models estimated the adjusted odds ratios (aORs) and 95% confidence intervals (95% CI) for the associations between extreme ambient heat exposure during periconception and isolated gastroschisis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>There were 191 cases of isolated gastroschisis and 764 controls in our study. Compared to no days of extreme heat exposure in the periconception period, exposure to 1–3, 4–7, and ≥ 8 days of extreme apparent temperatures was associated with 19% (aOR = 1.19; 95% CI 1.03, 1.38), 42% (aOR = 1.42; 95% CI 1.06, 1.91), and 70% (aOR = 1.70; 95% CI 1.09, 2.63) higher odds of isolated gastroschisis, respectively. Exposure to two or more and three or more consecutive days of extreme apparent temperature was associated with 58% (aOR = 1.58; 95% CI 1.08, 2.30) and 66% (aOR = 1.66; 95% CI 1.14, 2.41) higher odds of isolated gastroschisis, respectively.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We observed a positive association between exposure to extreme ambient heat and the odds of isolated gastroschisis. These findings highlight the need for more research on these associations and potential interventions to protect mothers and babies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145074414","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

Examination of Preconception Care Awareness and Knowledge of Couples Preparing for Marriage: A Cross-Sectional Study 准备结婚的夫妇孕前护理意识和知识的检验：一项横断面研究

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-13 DOI: 10.1002/bdr2.2529

Merve Ceren, Döndü Batkın Ertürk

Objective

This study aimed to examine the preconception care awareness and knowledge of couples preparing for marriage.

Methods

The sample of this cross-sectional study consisted of 240 engaged couples who applied for marriage to the marriage directorate of a central district municipality in the Mediterranean Region of Türkiye. The researchers collected the data through face-to-face interviews using the “Personal Information Form” and “Preconception Care Awareness and Information Form.”

Results

While 71.7% of women and 45.4% of men are 25 years old and below, 76.3% of women and 64.6% of men have a high school education or above. It was reported that 54.2% of women and 56.3% of men planned to have children immediately or 1 year after marriage. It was found that 8.8% of women and 4.2% of men had heard of the concept of preconception care, and there was a significant difference between women and men in terms of hearing the concept of preconception care (p < 0.05). The mean preconception care knowledge score of the participants was 59.26 ± 31.85 (possible scores are between 0 and 100). In this study, gender, educational status, occupation, presence of a disease that may affect health during pregnancy, presence of a genetic disease in the family, and planned time to have a child after marriage were determined as factors affecting knowledge of preconception care.

Conclusion

In this study, the rate of hearing the concept of preconception care among couples preparing for marriage is quite low, while their knowledge regarding its content and benefits is at an intermediate level. It is important to increase the awareness of preconception care in couples preparing for marriage and to eliminate the information gap.

目的了解拟结婚夫妇的孕前保健意识及相关知识。方法本横断面研究的样本包括240对向基耶省地中海地区某中心区市政婚姻局申请结婚的订婚夫妇。研究人员使用“个人信息表”和“孕前护理意识和信息表”通过面对面访谈收集数据。结果71.7%的女性和45.4%的男性年龄在25岁及以下，76.3%的女性和64.6%的男性具有高中及以上文化程度。据报道，54.2%的女性和56.3%的男性计划在婚后立即或一年内要孩子。调查发现，有8.8%的女性和4.2%的男性听说过孕前护理概念，男女在听说过孕前护理概念方面差异有统计学意义（p < 0.05）。调查对象的孕前护理知识平均得分为59.26±31.85分（可能分值在0 ~ 100分之间）。在这项研究中，性别、教育状况、职业、是否患有可能影响怀孕期间健康的疾病、家族中是否存在遗传性疾病以及婚后计划生育时间被确定为影响孕前保健知识的因素。结论本研究中，准备结婚夫妇对孕前保健概念的知晓率较低，对孕前保健内容和益处的了解处于中等水平。重要的是要提高准备结婚的夫妇对孕前保健的认识，并消除信息差距。

{"title":"Examination of Preconception Care Awareness and Knowledge of Couples Preparing for Marriage: A Cross-Sectional Study","authors":"Merve Ceren, Döndü Batkın Ertürk","doi":"10.1002/bdr2.2529","DOIUrl":"https://doi.org/10.1002/bdr2.2529","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study aimed to examine the preconception care awareness and knowledge of couples preparing for marriage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The sample of this cross-sectional study consisted of 240 engaged couples who applied for marriage to the marriage directorate of a central district municipality in the Mediterranean Region of Türkiye. The researchers collected the data through face-to-face interviews using the “Personal Information Form” and “Preconception Care Awareness and Information Form.”</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>While 71.7% of women and 45.4% of men are 25 years old and below, 76.3% of women and 64.6% of men have a high school education or above. It was reported that 54.2% of women and 56.3% of men planned to have children immediately or 1 year after marriage. It was found that 8.8% of women and 4.2% of men had heard of the concept of preconception care, and there was a significant difference between women and men in terms of hearing the concept of preconception care (<i>p</i> < 0.05). The mean preconception care knowledge score of the participants was 59.26 ± 31.85 (possible scores are between 0 and 100). In this study, gender, educational status, occupation, presence of a disease that may affect health during pregnancy, presence of a genetic disease in the family, and planned time to have a child after marriage were determined as factors affecting knowledge of preconception care.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In this study, the rate of hearing the concept of preconception care among couples preparing for marriage is quite low, while their knowledge regarding its content and benefits is at an intermediate level. It is important to increase the awareness of preconception care in couples preparing for marriage and to eliminate the information gap.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038390","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

Effect of Nigella sativa Consumption During Pregnancy on Fertility, Morphological and Behaviors of Mice Offspring 妊娠期食用黑草对小鼠后代生育能力、形态和行为的影响

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-13 DOI: 10.1002/bdr2.2530

Jawad Laadraoui, Mehdi Ait Laaradia, Zineb El Gabbas, Bilal El Mansoury, Taoufik El Rasafi, Hamid Kabdy, Abdelfatah Ait Baba, El Yazouli Loubna, Abderrahman Chait

Introduction

The use of medicinal plants during pregnancy, including Nigella sativa (Ns), or black seed, has gained interest for its therapeutic properties such as antioxidant, anti-inflammatory, and neuroprotective effects. However, its safety and effects on pregnancy and offspring development remain unclear. This study aimed to assess the effects of maternal Ns consumption on fertility, morphological growth, and behavioral development of mouse offspring.

Methods

Pregnant Swiss mice were given 300 mg/kg of Ns methanolic extract daily by gavage throughout gestation. Reproductive outcomes (litter size, birth viability, gestation period), physical growth, and behavioral reflexes of offspring were evaluated.

Results

Ns consumption significantly reduced litter size while birth viability was not significantly affected, and extended the gestation period. Morphological assessments revealed increased body weight and length of Ns-exposed offspring but delayed hair growth. Behavioral tests, including surface righting, negative geotaxis, and swimming development, showed delayed neuromotor reflexes in Ns-treated pups.

Conclusion

Ns has both growth-promoting and neurodevelopmentally disruptive effects when consumed during pregnancy. While it enhances certain physical growth parameters, it negatively affects reproductive outcomes and delays neuromotor reflex development. These findings highlight the need for caution to ensure its safe and beneficial use during gestation.

在怀孕期间使用药用植物，包括黑籽（Nigella sativa, Ns）或黑籽，因其抗氧化、抗炎和神经保护作用等治疗特性而受到关注。然而，其安全性及其对妊娠和后代发育的影响尚不清楚。本研究旨在评估母体氮消耗对小鼠后代生育能力、形态生长和行为发育的影响。方法妊娠小鼠每天灌胃给予Ns甲醇提取物300 mg/kg。评估后代的生殖结果（产仔数、生育能力、妊娠期）、身体发育和行为反射。结果n消耗显著降低了产仔数，但对产仔能力无显著影响，延长了妊娠期。形态学评估显示，暴露于硝态氮的后代体重和长度增加，但毛发生长延迟。行为测试，包括表面翻正、负地向性和游泳发育，显示ns治疗的幼鼠神经运动反射延迟。结论妊娠期摄入n具有促进生长和破坏神经发育的双重作用。虽然它增强了某些身体生长参数，但它对生殖结果产生了负面影响，并延缓了神经运动反射的发育。这些发现强调需要谨慎确保其在妊娠期间的安全和有益使用。

{"title":"Effect of Nigella sativa Consumption During Pregnancy on Fertility, Morphological and Behaviors of Mice Offspring","authors":"Jawad Laadraoui, Mehdi Ait Laaradia, Zineb El Gabbas, Bilal El Mansoury, Taoufik El Rasafi, Hamid Kabdy, Abdelfatah Ait Baba, El Yazouli Loubna, Abderrahman Chait","doi":"10.1002/bdr2.2530","DOIUrl":"https://doi.org/10.1002/bdr2.2530","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The use of medicinal plants during pregnancy, including <i>Nigella sativa</i> (<i>Ns</i>), or black seed, has gained interest for its therapeutic properties such as antioxidant, anti-inflammatory, and neuroprotective effects. However, its safety and effects on pregnancy and offspring development remain unclear. This study aimed to assess the effects of maternal <i>Ns</i> consumption on fertility, morphological growth, and behavioral development of mouse offspring.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Pregnant Swiss mice were given 300 mg/kg of <i>Ns</i> methanolic extract daily by gavage throughout gestation. Reproductive outcomes (litter size, birth viability, gestation period), physical growth, and behavioral reflexes of offspring were evaluated.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p><i>Ns</i> consumption significantly reduced litter size while birth viability was not significantly affected, and extended the gestation period. Morphological assessments revealed increased body weight and length of <i>Ns</i>-exposed offspring but delayed hair growth. Behavioral tests, including surface righting, negative geotaxis, and swimming development, showed delayed neuromotor reflexes in <i>Ns</i>-treated pups.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p><i>Ns</i> has both growth-promoting and neurodevelopmentally disruptive effects when consumed during pregnancy. While it enhances certain physical growth parameters, it negatively affects reproductive outcomes and delays neuromotor reflex development. These findings highlight the need for caution to ensure its safe and beneficial use during gestation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038454","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

Cancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review 唇腭裂患者及其家庭的癌症风险和遗传关联：一个叙述性的回顾

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-12 DOI: 10.1002/bdr2.2528

Cesar Ghadbane, Elisia Maalouf, Tigresse Boutros, Elie Ghadban

Background

Orofacial clefts (OFCs) are among the most common craniofacial birth defects and have been investigated for possible associations with increased cancer risk in affected individuals and their families.

Method

This narrative review synthesizes current evidence from epidemiological, familial, and genetic studies.

Results

Population-based and registry analyses have reported elevated risks of breast, brain, lung, oral, colorectal, and hematologic cancers, while meta-analyses highlight inconsistent findings and frequent null associations. Familial clustering studies provide stronger support, with excess colorectal and gastric cancers observed in AXIN2- and CDH1-positive pedigrees and an increased prevalence of cancer among relatives of non-syndromic cleft lip and palate patients. At the genetic level, variants in AXIN2, CDH1, FOXE1, BRCA1/2, BRIP1, and E2F1 have been implicated in both craniofacial development and tumorigenesis. Evidence also points to the modifying role of environmental exposures, particularly maternal smoking, which may interact with susceptibility variants to amplify risk. Current research is limited by small sample sizes, subtype heterogeneity, and underrepresentation of late-onset cancers. Larger, subtype-specific studies integrating genomic and environmental data are needed to clarify risk pathways and guide the development of targeted screening strategies for individuals with OFCs and their families.

Orofacial cleft （OFCs）是最常见的颅面出生缺陷之一，已经研究了其与受影响个体及其家庭癌症风险增加的可能关联。方法本综述综合了流行病学、家族学和遗传学研究的现有证据。基于人群和登记分析报告了乳腺癌、脑癌、肺癌、口腔癌、结直肠癌和血液癌的风险升高，而荟萃分析强调了不一致的发现和频繁的零关联。家族聚类研究提供了更有力的支持，在AXIN2-和cdh1阳性的家系中观察到较多的结直肠癌和胃癌，并且在非综合征型唇腭裂患者的亲属中癌症患病率增加。在遗传水平上，AXIN2、CDH1、FOXE1、BRCA1/2、BRIP1和E2F1的变异都与颅面发育和肿瘤发生有关。证据还指出，环境暴露，特别是母亲吸烟，可能与易感性变异相互作用，扩大风险的调节作用。目前的研究受到样本量小、亚型异质性和迟发性癌症代表性不足的限制。需要整合基因组和环境数据的更大规模的亚型特异性研究来明确风险途径，并指导OFCs患者及其家庭的靶向筛查策略的制定。

{"title":"Cancer Risk and Genetic Associations in Individuals With Cleft Lip and Palate and Their Families: A Narrative Review","authors":"Cesar Ghadbane, Elisia Maalouf, Tigresse Boutros, Elie Ghadban","doi":"10.1002/bdr2.2528","DOIUrl":"https://doi.org/10.1002/bdr2.2528","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Orofacial clefts (OFCs) are among the most common craniofacial birth defects and have been investigated for possible associations with increased cancer risk in affected individuals and their families.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This narrative review synthesizes current evidence from epidemiological, familial, and genetic studies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Population-based and registry analyses have reported elevated risks of breast, brain, lung, oral, colorectal, and hematologic cancers, while meta-analyses highlight inconsistent findings and frequent null associations. Familial clustering studies provide stronger support, with excess colorectal and gastric cancers observed in <i>AXIN2</i>- and <i>CDH1</i>-positive pedigrees and an increased prevalence of cancer among relatives of non-syndromic cleft lip and palate patients. At the genetic level, variants in <i>AXIN2</i>, <i>CDH1</i>, <i>FOXE1</i>, <i>BRCA1</i>/2, <i>BRIP1</i>, and <i>E2F1</i> have been implicated in both craniofacial development and tumorigenesis. Evidence also points to the modifying role of environmental exposures, particularly maternal smoking, which may interact with susceptibility variants to amplify risk. Current research is limited by small sample sizes, subtype heterogeneity, and underrepresentation of late-onset cancers. Larger, subtype-specific studies integrating genomic and environmental data are needed to clarify risk pathways and guide the development of targeted screening strategies for individuals with OFCs and their families.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145038419","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

Correction to Teratogenic Effects of Serotonin Receptor 2B Disruption on the Migration and Cardiac Derivatives of the Cardiac Neural Crest 修正5 -羟色胺受体2B干扰对心脏神经嵴迁移和心脏衍生物的致畸作用

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-08 DOI: 10.1002/bdr2.2519

Wells, B. K., G. K. Garramone, A. Mahomed, and M. Ezin. 2025. “Teratogenic Effects of Serotonin Receptor 2B Disruption on the Migration and Cardiac Derivatives of the Cardiac Neural Crest.” Birth Defects Research 117, no. 7: e2506. https://doi.org/10.1002/bdr2.2506.

The Data Availability Statement for this article has been updated from the originally-published version:

Incorrect:

Data Availability Statement

The data that support the findings of this study are available from the corresponding author upon reasonable request.

Correct:

Data Availability Statement

The data that support the findings of this study are available in the Supporting Information of this article.

The data for this article are available on the publisher's website, and the online version of the article has been updated.

We apologize for this error.

Wells, b.k., g.k. Garramone， A. Mahomed和M. Ezin, 2025。5 -羟色胺受体2B干扰对心脏神经嵴迁移和心脏衍生物的致畸作用出生缺陷研究117，no。7: e2506。https://doi.org/10.1002/bdr2.2506.The本文的数据可用性声明已从原始发布的版本更新：错误：数据可用性声明支持本研究结果的数据可根据通讯作者的合理要求获得。正确：数据可用性声明支持本研究结果的数据可在本文的支持信息中找到。这篇文章的数据可以在出版商的网站上找到，文章的在线版本已经更新了。我们为这个错误道歉。

引用次数: 0

Association Between Socioeconomic Status and Major Congenital Anomalies: A Two-Sample Mendelian Randomization Study 社会经济地位与先天性畸形之间的关系：一项双样本孟德尔随机化研究

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-05 DOI: 10.1002/bdr2.2524

Daniel Linares, Qun Miao, Beatriz Luna

Background

Traditional observational studies suggest that socioeconomic status (SES) may influence the risk of congenital anomalies; however, an association remains unclear due to residual confounding. This study used Mendelian randomization (MR) to explore the potential causal relationship between SES indicators and specific congenital anomalies.

Methods

We performed two-sample MR analyses to explore whether three indicators of SES—educational attainment, household income, and the Townsend Deprivation Index—have a relationship with the risk of major congenital anomalies. Genetic variants associated with these SES indicators were obtained from the MRC Integrative Epidemiology Unit (IEU) OpenGWAS database, based on UK Biobank data. Genetic associations with nine categories of congenital anomalies were sourced from the FinnGen study. The primary MR method was inverse-variance weighted (IVW), with sensitivity analyses and Bonferroni correction applied to account for multiple testing.

Results

Prior to correction for multiple testing, higher educational attainment was associated with reduced risk of congenital heart defects (CHDs) (OR = 0.60, 95% CI: 0.41–0.88; p = 0.001), congenital respiratory system malformations (OR = 0.20, 95% CI: 0.06–0.62; p = 0.005), and musculoskeletal malformations (OR = 0.47, 95% CI: 0.29–0.76; p = 0.002). A lower Townsend Deprivation Index was unexpectedly associated with a higher risk of congenital digestive tract anomalies (OR = 4.53, 95% CI: 1.10–18.63; p = 0.036). However, after Bonferroni correction, only the association between educational attainment and CHDs remained significant (adjusted p = 0.02).

Conclusions

We found limited evidence on the association between SES and congenital anomalies. Only higher educational attainment was significantly associated with reduced risk of CHDs after multiple testing correction. Further research with refined methods is needed to clarify these associations.

传统的观察性研究表明，社会经济地位（SES）可能影响先天性异常的风险；然而，由于残留的混淆，其关联仍不清楚。本研究采用孟德尔随机化（MR）方法探讨SES指标与特定先天性异常之间的潜在因果关系。方法采用两样本磁共振分析，探讨ses的三个指标——受教育程度、家庭收入和汤森剥夺指数——是否与重大先天性异常的风险有关。与这些SES指标相关的遗传变异来自MRC综合流行病学单位（IEU） OpenGWAS数据库，基于UK Biobank数据。与九类先天性异常的遗传关联来源于FinnGen研究。主要MR方法是反方差加权（IVW），采用敏感性分析和Bonferroni校正来解释多重检验。结果在校正多重测试之前，较高的教育程度与先天性心脏缺陷（CHDs）（OR = 0.60, 95% CI: 0.41-0.88; p = 0.001）、先天性呼吸系统畸形（OR = 0.20, 95% CI: 0.06-0.62; p = 0.005）和肌肉骨骼畸形（OR = 0.47, 95% CI: 0.29-0.76; p = 0.002）的风险降低相关。汤森剥夺指数越低，先天性消化道异常的风险越高（OR = 4.53, 95% CI: 1.10-18.63; p = 0.036）。然而，经Bonferroni校正后，只有受教育程度与冠心病之间的关系仍然显著（调整p = 0.02）。结论：我们发现有限的证据表明SES与先天性异常之间存在关联。在多次测试校正后，只有较高的教育程度与降低冠心病风险显著相关。需要用更精确的方法进行进一步的研究来澄清这些关联。

{"title":"Association Between Socioeconomic Status and Major Congenital Anomalies: A Two-Sample Mendelian Randomization Study","authors":"Daniel Linares, Qun Miao, Beatriz Luna","doi":"10.1002/bdr2.2524","DOIUrl":"https://doi.org/10.1002/bdr2.2524","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Traditional observational studies suggest that socioeconomic status (SES) may influence the risk of congenital anomalies; however, an association remains unclear due to residual confounding. This study used Mendelian randomization (MR) to explore the potential causal relationship between SES indicators and specific congenital anomalies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We performed two-sample MR analyses to explore whether three indicators of SES—educational attainment, household income, and the Townsend Deprivation Index—have a relationship with the risk of major congenital anomalies. Genetic variants associated with these SES indicators were obtained from the MRC Integrative Epidemiology Unit (IEU) OpenGWAS database, based on UK Biobank data. Genetic associations with nine categories of congenital anomalies were sourced from the FinnGen study. The primary MR method was inverse-variance weighted (IVW), with sensitivity analyses and Bonferroni correction applied to account for multiple testing.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Prior to correction for multiple testing, higher educational attainment was associated with reduced risk of congenital heart defects (CHDs) (OR = 0.60, 95% CI: 0.41–0.88; <i>p</i> = 0.001), congenital respiratory system malformations (OR = 0.20, 95% CI: 0.06–0.62; <i>p</i> = 0.005), and musculoskeletal malformations (OR = 0.47, 95% CI: 0.29–0.76; <i>p</i> = 0.002). A lower Townsend Deprivation Index was unexpectedly associated with a higher risk of congenital digestive tract anomalies (OR = 4.53, 95% CI: 1.10–18.63; <i>p</i> = 0.036). However, after Bonferroni correction, only the association between educational attainment and CHDs remained significant (adjusted <i>p</i> = 0.02).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We found limited evidence on the association between SES and congenital anomalies. Only higher educational attainment was significantly associated with reduced risk of CHDs after multiple testing correction. Further research with refined methods is needed to clarify these associations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144998684","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

Helical Body Axis Orientations in Human Embryonic Development 人类胚胎发育中的螺旋体轴取向

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-05 DOI: 10.1002/bdr2.2527

Sena Fujii, Shigehito Yamada, Tetsuya Takakuwa

Background

In mouse embryos, the body axis typically follows a right-handed helical pattern; however, a definitive orientation in human embryos has not been established. This study aimed to characterize the body axis orientation in human embryos (CS13–CS17) from the Kyoto Collection.

Methods

Embryos were classified as right-helical (RH), left-helical (LH), and middle (M) using MRI-based morphological assessment.

Results

RH orientation was predominant at CS13, whereas it became comparable to LH at CS14. From CS15 to CS17, LH became dominant, nearly doubling the frequency of RH by CS15. The proportion of M-pattern embryos increased with advancing Carnegie Stages, reaching 70% at CS17. As vertebral column chondrification begins at CS17–18, these findings suggest that the helical body axis is established before chondrogenesis, particularly during CS13–CS15. Internal organ laterality (stomach, heart, intestines, and liver) appeared consistent among body axis orientations in CS15–CS17 embryos.

Conclusion

The results demonstrate substantial variability in human embryonic body axis orientation, in contrast to the well-defined pattern in mice, and provide insights into body axis formation in human embryos and their potential role in left–right asymmetry.

在小鼠胚胎中，身体轴通常遵循右旋螺旋模式；然而，在人类胚胎中尚未确定明确的定向。本研究旨在对京都收集的人类胚胎（CS13-CS17）的体轴取向进行表征。方法采用mri形态学鉴定方法将胚胎分为右螺旋形（RH）、左螺旋形（LH）和中螺旋形(M)。结果CS13以RH取向为主，CS14与LH取向相当。从CS15到CS17， LH成为优势，RH的频率几乎是CS15的两倍。m型胚的比例随着卡内基期的推进而增加，在CS17时达到70%。由于脊柱软骨形成开始于CS17-18，这些发现表明螺旋体轴在软骨形成之前就已经建立，特别是在CS13-CS15期间。内脏器官侧向（胃、心、肠和肝）在CS15-CS17胚胎中呈现一致的体轴方向。结论人类胚胎体轴方向与小鼠不同，具有明显的差异性，为人类胚胎体轴的形成及其在左右不对称中的潜在作用提供了新的思路。

{"title":"Helical Body Axis Orientations in Human Embryonic Development","authors":"Sena Fujii, Shigehito Yamada, Tetsuya Takakuwa","doi":"10.1002/bdr2.2527","DOIUrl":"https://doi.org/10.1002/bdr2.2527","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In mouse embryos, the body axis typically follows a right-handed helical pattern; however, a definitive orientation in human embryos has not been established. This study aimed to characterize the body axis orientation in human embryos (CS13–CS17) from the Kyoto Collection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Embryos were classified as right-helical (RH), left-helical (LH), and middle (M) using MRI-based morphological assessment.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>RH orientation was predominant at CS13, whereas it became comparable to LH at CS14. From CS15 to CS17, LH became dominant, nearly doubling the frequency of RH by CS15. The proportion of M-pattern embryos increased with advancing Carnegie Stages, reaching 70% at CS17. As vertebral column chondrification begins at CS17–18, these findings suggest that the helical body axis is established before chondrogenesis, particularly during CS13–CS15. Internal organ laterality (stomach, heart, intestines, and liver) appeared consistent among body axis orientations in CS15–CS17 embryos.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The results demonstrate substantial variability in human embryonic body axis orientation, in contrast to the well-defined pattern in mice, and provide insights into body axis formation in human embryos and their potential role in left–right asymmetry.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144997895","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

Spontaneous Resolution of Molar Tissue in Complete Hydatidiform Mole With a Coexisting Fetus 与胎儿共存的完整葡萄胎中磨牙组织的自发溶解

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-04 DOI: 10.1002/bdr2.2525

Paz Ahumada-Droguett, Trinidad Arancibia, Helga Vera, Daniel Martin, Francisco Sánchez, Juan Carlos Bustos

Background

Complete hydatidiform mole with a coexisting fetus (CMCF) is a rare form of twin pregnancy associated with high maternal and perinatal risks, posing complex diagnostic and therapeutic challenges. The standard approach ranges from termination of pregnancy to conservative management to fetal viability. Recent evidence suggests that spontaneous regression of molar tissue may occur, supporting conservative treatment in selected cases. We present a new case and discuss the clinical consequences of this phenomenon.

Case

We report a 29-year-old woman with a history of a previous molar pregnancy who presented with CMCF during her second gestation. The diagnosis was established at 21 weeks' gestation based on ultrasound findings and an elevated beta-hCG level of 454,000 mIU/mL. After multidisciplinary counseling, expectant management was indicated with close clinical, sonographic, and biochemical surveillance. By 30 weeks, significant regression in molar tissue was observed, and by 36 weeks, the appearance on ultrasound was like a normal placenta with decreased beta-hCG levels. At 37 weeks, a cesarean section was performed, resulting in the delivery of a healthy female infant weighing 2585 g. The placenta was normal and small, necrotic-appearing placental tissue. Histopathological analysis confirmed the presence of gestational trophoblastic disease with extensive necrosis.

Conclusions

This is the third reported case of spontaneous regression of molar tissue in CMCF, with resolution occurring in the third trimester. This finding opens a new perspective for the management of these complex pregnancies, suggesting that conservative strategies may be justified in selected patients under close surveillance.

背景完全葡萄胎合并胎儿（CMCF）是一种罕见的双胎妊娠，具有较高的母体和围产期风险，具有复杂的诊断和治疗挑战。标准的方法包括从终止妊娠到保守管理到胎儿生存能力。最近的证据表明，磨牙组织可能发生自发退化，支持保守治疗。我们提出一个新的病例，并讨论这种现象的临床后果。病例我们报告了一位29岁的女性，她有过磨牙妊娠史，在她的第二次妊娠期间出现了CMCF。根据超声检查结果和45.4万mIU/mL的β - hcg水平升高，在妊娠21周时确诊。多学科咨询后，准管理指示密切的临床，超声和生化监测。到30周时，观察到磨牙组织明显退化，到36周时，超声外观与正常胎盘相似，β - hcg水平降低。37周时，进行了剖宫产手术，生下了一名体重2585克的健康女婴。胎盘正常，胎盘组织小，呈坏死状。组织病理学分析证实存在妊娠滋养细胞疾病伴广泛坏死。结论：这是第三例报道的CMCF磨牙组织自发消退的病例，在妊娠晚期出现消退。这一发现为这些复杂妊娠的管理开辟了一个新的视角，表明在密切监测下，保守策略可能是合理的。

{"title":"Spontaneous Resolution of Molar Tissue in Complete Hydatidiform Mole With a Coexisting Fetus","authors":"Paz Ahumada-Droguett, Trinidad Arancibia, Helga Vera, Daniel Martin, Francisco Sánchez, Juan Carlos Bustos","doi":"10.1002/bdr2.2525","DOIUrl":"https://doi.org/10.1002/bdr2.2525","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Complete hydatidiform mole with a coexisting fetus (CMCF) is a rare form of twin pregnancy associated with high maternal and perinatal risks, posing complex diagnostic and therapeutic challenges. The standard approach ranges from termination of pregnancy to conservative management to fetal viability. Recent evidence suggests that spontaneous regression of molar tissue may occur, supporting conservative treatment in selected cases. We present a new case and discuss the clinical consequences of this phenomenon.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case</h3>\u0000 \u0000 <p>We report a 29-year-old woman with a history of a previous molar pregnancy who presented with CMCF during her second gestation. The diagnosis was established at 21 weeks' gestation based on ultrasound findings and an elevated beta-hCG level of 454,000 mIU/mL. After multidisciplinary counseling, expectant management was indicated with close clinical, sonographic, and biochemical surveillance. By 30 weeks, significant regression in molar tissue was observed, and by 36 weeks, the appearance on ultrasound was like a normal placenta with decreased beta-hCG levels. At 37 weeks, a cesarean section was performed, resulting in the delivery of a healthy female infant weighing 2585 g. The placenta was normal and small, necrotic-appearing placental tissue. Histopathological analysis confirmed the presence of gestational trophoblastic disease with extensive necrosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the third reported case of spontaneous regression of molar tissue in CMCF, with resolution occurring in the third trimester. This finding opens a new perspective for the management of these complex pregnancies, suggesting that conservative strategies may be justified in selected patients under close surveillance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144935358","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

Leveraging Health Insurance Claims Data to Complement the Centers for Disease Control and Prevention Surveillance System for Birth Defects 利用健康保险索赔数据补充疾病控制和预防中心的出生缺陷监测系统

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-09-02 DOI: 10.1002/bdr2.2523

Sharon Ng, Jeremy P. Brown, Loreen Straub, Brian Bateman, Kathryn J. Gray, Krista F. Huybrechts, Sonia Hernández-Díaz

Background

Birth defect surveillance can help identify temporo-spatial clusters and teratogenic signals to inform subsequent investigations or interventions. In the United States, state surveillance systems exist but collect limited information, prompting a complementary use of health insurance claims data to describe national birth defect prevalence trends and investigate signals.

Methods

The Merative MarketScan Commercial Claims and Encounters (MarketScan) database was used to identify liveborn infants from 2016 to 2022, with linkage to maternal health care records during pregnancy. Birth defects were identified using ICD-10-CM codes recorded in the first 3 months of life, and prevalence estimates with 95% confidence intervals were generated for birth defect categories and select birth defects.

Results

The study population included 943,855 liveborn infants. From 2016 to 2022, the prevalence increased for cardiac, central nervous system, ear, genital, urinary, musculoskeletal, and limb birth defect categories. Stable prevalence over the study period was observed for chromosomal, oral cleft, respiratory, gastrointestinal, vascular, and eye defects. For specific defects, we observed an increased prevalence of both ankyloglossia and lip-tie over the study period and a transient higher prevalence of omphalocele over 2017 and 2018. Within genital birth defects, we observed increasing prevalence trends for congenital malformations of the penis, while hypospadias and cryptorchidism remained relatively stable.

Conclusion

Health care utilization databases can complement existing surveillance systems by generating, confirming, or refuting signals based on ecological trends or clusters. The availability of patient information in claims databases can allow for further investigation of signals to inform birth defect etiology.

出生缺陷监测可以帮助识别时空集群和致畸信号，为后续调查或干预提供信息。在美国，虽然存在州监测系统，但收集的信息有限，这促使人们补充使用健康保险索赔数据来描述国家出生缺陷流行趋势和调查信号。方法使用Merative MarketScan商业索赔和遭遇（MarketScan）数据库识别2016年至2022年的活产婴儿，并与妊娠期间的孕产妇保健记录相关联。使用出生前3个月记录的ICD-10-CM代码确定出生缺陷，并对出生缺陷类别和选定的出生缺陷产生95%置信区间的患病率估计。结果研究人群包括943,855名活产婴儿。从2016年到2022年，心脏、中枢神经系统、耳部、生殖器、泌尿、肌肉骨骼和肢体出生缺陷类别的患病率有所上升。在研究期间，观察到染色体、口腔裂、呼吸、胃肠道、血管和眼睛缺陷的稳定患病率。对于特定缺陷，我们观察到在研究期间，紧张症和唇系带的患病率均有所增加，而在2017年和2018年，脐膨出的患病率短暂上升。在生殖器出生缺陷中，我们观察到先天性阴茎畸形的患病率呈上升趋势，而尿道下裂和隐睾则保持相对稳定。结论卫生保健利用数据库可通过生成、确认或反驳基于生态趋势或群集的信号来补充现有的监测系统。索赔数据库中患者信息的可用性可以允许进一步调查信号，以告知出生缺陷病因。

{"title":"Leveraging Health Insurance Claims Data to Complement the Centers for Disease Control and Prevention Surveillance System for Birth Defects","authors":"Sharon Ng, Jeremy P. Brown, Loreen Straub, Brian Bateman, Kathryn J. Gray, Krista F. Huybrechts, Sonia Hernández-Díaz","doi":"10.1002/bdr2.2523","DOIUrl":"https://doi.org/10.1002/bdr2.2523","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Birth defect surveillance can help identify temporo-spatial clusters and teratogenic signals to inform subsequent investigations or interventions. In the United States, state surveillance systems exist but collect limited information, prompting a complementary use of health insurance claims data to describe national birth defect prevalence trends and investigate signals.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The Merative MarketScan Commercial Claims and Encounters (MarketScan) database was used to identify liveborn infants from 2016 to 2022, with linkage to maternal health care records during pregnancy. Birth defects were identified using ICD-10-CM codes recorded in the first 3 months of life, and prevalence estimates with 95% confidence intervals were generated for birth defect categories and select birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study population included 943,855 liveborn infants. From 2016 to 2022, the prevalence increased for cardiac, central nervous system, ear, genital, urinary, musculoskeletal, and limb birth defect categories. Stable prevalence over the study period was observed for chromosomal, oral cleft, respiratory, gastrointestinal, vascular, and eye defects. For specific defects, we observed an increased prevalence of both ankyloglossia and lip-tie over the study period and a transient higher prevalence of omphalocele over 2017 and 2018. Within genital birth defects, we observed increasing prevalence trends for congenital malformations of the penis, while hypospadias and cryptorchidism remained relatively stable.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Health care utilization databases can complement existing surveillance systems by generating, confirming, or refuting signals based on ecological trends or clusters. The availability of patient information in claims databases can allow for further investigation of signals to inform birth defect etiology.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 9","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-09-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144927445","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

Reply to Correspondence “Beyond Aggregate Risk: Drug- and Organ-Specific Nuances in Counseling on Antidepressant Teratogenicity” (Tsai et al. 2025) 回复信函“超越总体风险：抗抑郁药物致畸性咨询中药物和器官特异性的细微差别”（Tsai et al. 2025）

IF 1.6 4区医学 Q4 DEVELOPMENTAL BIOLOGY

Birth Defects Research

Pub Date : 2025-08-28 DOI: 10.1002/bdr2.2522

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

We thank the authors for their positive feedback on our recent publication “Synthesizing cohort study results to promote knowledge transfer of safety data regarding gestational antidepressant exposure and offspring congenital anomalies: A test of concept” (Moses-Kolko et al. 2025). We appreciate the commendation for our test-of-concept fact box that we used to illustrate a strategy to facilitate prescriber-patient communication regarding potential benefits and risks of use of antidepressants during pregnancy. The idea of a layered fact box is intriguing. Because many patient encounters are virtual, technology could indeed be harnessed to create and display digital image layers during a risk discussion (Tsai et al. 2025).

The authors raise the important point that we mention in our discussion; that presenting pooled relative risks for overall major congenital anomalies and cardiac anomalies can obscure specific risk data regarding individual drugs as well as anomalies in specific organ systems and subsystems. As the manuscript title implies, we presented the example of gestational antidepressant exposure and the risk of major congenital malformations overall and cardiac malformations as a test of concept. We agree that it would be meaningful to extend the example we provided in the manuscript to organ-specific malformations as well as specific drugs. Ideally, there would be ample studies which minimize confounding and misclassification bias available to generate pooled risk estimates on specific drug exposure-organ malformation outcomes for use in a fact box. As we mention in the manuscript, a current challenge for summarizing data for specific drugs, for new drugs, or for rare anomalies is the paucity of high-quality evidence (Covington et al. 2004).

The authors cite several studies they believe provide clinically actionable signals. One study is misquoted. The Huybrechts study (Huybrechts et al. 2014) did not report an organ-specific and agent-specific increase in risk. They reported an adjusted RR of 0.94 (95% CI 0.73–1.21) for the association between paroxetine and cardiac anomalies and an adjusted RR of 0.73 (95% CI 0.49–1.09) for the association with ventricular septal defects and 1.07 (95% CI 0.59–1.93) for the association with right ventricular outflow tract obstruction, specifically.

An important direction of pharmacoepidemiology research is the harmonization across studies of exposure and outcome definitions as well as methods to address confounding and bias (Richardson et al. 2025) to make replication and meta-analysis possible in future research. We eagerly anticipate such research advances that will generate greater confidence in drug and organ-specific signals that can be incorporated into clinical risk discussions as well as into clinically useful fact boxes.

K.F.H. reports being an investigator on grants to her institution from UCB, GSK, and

我们感谢作者对我们最近发表的“综合队列研究结果以促进妊娠期抗抑郁药暴露和后代先天性异常安全数据的知识转移：概念测试”（Moses-Kolko et al. 2025）的积极反馈。我们感谢对我们的概念测试事实盒的赞扬，我们用它来说明一种策略，以促进医生和病人就怀孕期间使用抗抑郁药的潜在益处和风险进行沟通。分层事实盒的想法很有趣。由于许多患者的接触是虚拟的，技术确实可以用来在风险讨论期间创建和显示数字图像层（Tsai et al. 2025）。作者提出了我们在讨论中提到的重要观点；总体主要先天性异常和心脏异常的综合相对风险可能会模糊个别药物以及特定器官系统和子系统异常的具体风险数据。正如论文标题所暗示的那样，我们提出了妊娠期抗抑郁药暴露与主要先天性畸形和心脏畸形风险的例子，作为概念的检验。我们同意将我们在手稿中提供的例子扩展到器官特异性畸形以及特定药物将是有意义的。理想情况下，应该有充分的研究，尽量减少混淆和错误分类偏差，以产生特定药物暴露-器官畸形结果的综合风险估计，用于事实框。正如我们在论文中提到的，当前总结特定药物、新药或罕见异常数据的挑战是缺乏高质量的证据（Covington et al. 2004）。作者引用了几项研究，他们认为这些研究提供了临床可操作的信号。一项研究被错误引用。Huybrechts研究（Huybrechts et al. 2014）没有报告器官特异性和药物特异性的风险增加。他们报道帕罗西汀与心脏异常相关的校正RR为0.94 (95% CI 0.73 - 1.21)，与室间隔缺损相关的校正RR为0.73 (95% CI 0.49-1.09)，与右室流出道梗阻相关的校正RR为1.07 （95% CI 0.59-1.93）。药物流行病学研究的一个重要方向是协调暴露和结果定义的研究，以及解决混淆和偏倚的方法（Richardson et al. 2025），以便在未来的研究中进行复制和荟萃分析。我们热切地期待着这样的研究进展，这将对药物和器官特异性信号产生更大的信心，这些信号可以纳入临床风险讨论以及临床有用的事实箱。报告称她是UCB， GSK和武田向她的机构提供资助的研究员，与这项工作无关。L.S.报告说，她是葛兰素史克向她的机构提供的一项拨款的研究员，与这项工作无关。E.L.M.-K。和K.F.没有商业或财务利益冲突。

{"title":"Reply to Correspondence “Beyond Aggregate Risk: Drug- and Organ-Specific Nuances in Counseling on Antidepressant Teratogenicity” (Tsai et al. 2025)","authors":"Eydie L. Moses-Kolko, Loreen Straub, Kelly Fung, Krista F. Huybrechts","doi":"10.1002/bdr2.2522","DOIUrl":"https://doi.org/10.1002/bdr2.2522","url":null,"abstract":"<p>We thank the authors for their positive feedback on our recent publication “Synthesizing cohort study results to promote knowledge transfer of safety data regarding gestational antidepressant exposure and offspring congenital anomalies: A test of concept” (Moses-Kolko et al. <span>2025</span>). We appreciate the commendation for our test-of-concept fact box that we used to illustrate a strategy to facilitate prescriber-patient communication regarding potential benefits and risks of use of antidepressants during pregnancy. The idea of a layered fact box is intriguing. Because many patient encounters are virtual, technology could indeed be harnessed to create and display digital image layers during a risk discussion (Tsai et al. <span>2025</span>).</p><p>The authors raise the important point that we mention in our discussion; that presenting pooled relative risks for overall major congenital anomalies and cardiac anomalies can obscure specific risk data regarding individual drugs as well as anomalies in specific organ systems and subsystems. As the manuscript title implies, we presented the example of gestational antidepressant exposure and the risk of major congenital malformations overall and cardiac malformations as a test of concept. We agree that it would be meaningful to extend the example we provided in the manuscript to organ-specific malformations as well as specific drugs. Ideally, there would be ample studies which minimize confounding and misclassification bias available to generate pooled risk estimates on specific drug exposure-organ malformation outcomes for use in a fact box. As we mention in the manuscript, a current challenge for summarizing data for specific drugs, for new drugs, or for rare anomalies is the paucity of high-quality evidence (Covington et al. <span>2004</span>).</p><p>The authors cite several studies they believe provide clinically actionable signals. One study is misquoted. The Huybrechts study (Huybrechts et al. <span>2014</span>) did not report an organ-specific and agent-specific increase in risk. They reported an adjusted RR of 0.94 (95% CI 0.73–1.21) for the association between paroxetine and cardiac anomalies and an adjusted RR of 0.73 (95% CI 0.49–1.09) for the association with ventricular septal defects and 1.07 (95% CI 0.59–1.93) for the association with right ventricular outflow tract obstruction, specifically.</p><p>An important direction of pharmacoepidemiology research is the harmonization across studies of exposure and outcome definitions as well as methods to address confounding and bias (Richardson et al. <span>2025</span>) to make replication and meta-analysis possible in future research. We eagerly anticipate such research advances that will generate greater confidence in drug and organ-specific signals that can be incorporated into clinical risk discussions as well as into clinically useful fact boxes.</p><p>K.F.H. reports being an investigator on grants to her institution from UCB, GSK, and","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 8","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2522","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144910490","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}

引用次数: 0