Dianna Contreras, Brandon Miura-Akagi, Michael Gibbons, Glenda M. Ramirez
Introduction
Timely, accurate reporting is essential for population-based surveillance of birth defects. Searching specific diagnosis codes in hospital discharge data is standard practice for identifying potential cases; however, it lacks the confidence obtained through chart review for case confirmation. While inarguably valuable, case confirmation is time-consuming. This study aimed to assess the value of diagnosis and procedure codes for case confirmation using various combinations of ICD-10-CM/PCS codes (henceforth termed ICD-10).
Methods
For birth years 2021 and 2022, Arizona used two databases for case-finding and case confirmation analysis. The authors used the Arizona Hospital Discharge Database to identify potential gastroschisis cases, querying ICD-10 codes Q793, 0WQF0ZZ, and 0WUF0JZ. Arizona's Birth Defect Registry (BDR) database represents our gold standard for true cases, as they are all confirmed via medical chart review. Arizona used standard epidemiology practices for comparing the data, focusing on positive predictive value (PPV) to compare two cohorts: Diagnosis Only and Diagnosis + Procedure.
Results
The traditional query of diagnosis code only yielded a PPV of 68.8%, whereas the new query using both diagnosis code and 1 or 2 procedure codes produced a PPV of 100.0%.
Discussion
The combination of codes produced results with more confidence than just the typical case-finding process, and could feasibly be used to confirm cases without chart reviews.
Conclusion
Using the diagnosis code and procedure code simultaneously enables a more efficient gastroschisis case-confirmation process and potentially improves overall surveillance.
及时、准确的报告对以人群为基础的出生缺陷监测至关重要。在出院数据中搜索特定的诊断代码是识别潜在病例的标准做法；然而，它缺乏通过图表审查来确定病例的信心。毋庸置疑，病例确认是非常耗时的。本研究旨在评估使用ICD-10- cm /PCS代码（以下称为ICD-10）的各种组合进行病例确认的诊断和程序代码的价值。方法：对于出生年份2021年和2022年，亚利桑那州使用两个数据库进行病例发现和病例确认分析。作者使用亚利桑那州医院出院数据库来识别潜在的胃裂病例，查询ICD-10代码q7993、0WQF0ZZ和0WUF0JZ。亚利桑那州的出生缺陷登记（BDR）数据库代表了我们对真实病例的黄金标准，因为它们都是通过医疗图表审查确认的。亚利桑那采用标准的流行病学方法来比较数据，重点关注阳性预测值（PPV）来比较两个队列：仅诊断和诊断+手术。结果：传统诊断码查询的PPV仅为68.8%，而同时使用诊断码和1或2个程序码的新查询的PPV为100.0%。讨论：代码的组合产生的结果比典型的病例发现过程更有信心，并且可以在没有图表审查的情况下可行地用于确认病例。结论：同时使用诊断码和程序码可以提高腹裂病例确诊过程的效率，并有可能提高整体监测水平。
{"title":"Gastroschisis: Is the Combination of Diagnosis and Procedure Code Sufficient for Case-Confirmation?","authors":"Dianna Contreras, Brandon Miura-Akagi, Michael Gibbons, Glenda M. Ramirez","doi":"10.1002/bdr2.70018","DOIUrl":"10.1002/bdr2.70018","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Timely, accurate reporting is essential for population-based surveillance of birth defects. Searching specific diagnosis codes in hospital discharge data is standard practice for identifying potential cases; however, it lacks the confidence obtained through chart review for case confirmation. While inarguably valuable, case confirmation is time-consuming. This study aimed to assess the value of diagnosis and procedure codes for case confirmation using various combinations of ICD-10-CM/PCS codes (henceforth termed ICD-10).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>For birth years 2021 and 2022, Arizona used two databases for case-finding and case confirmation analysis. The authors used the Arizona Hospital Discharge Database to identify potential gastroschisis cases, querying ICD-10 codes Q793, 0WQF0ZZ, and 0WUF0JZ. Arizona's Birth Defect Registry (BDR) database represents our gold standard for true cases, as they are all confirmed via medical chart review. Arizona used standard epidemiology practices for comparing the data, focusing on positive predictive value (PPV) to compare two cohorts: Diagnosis Only and Diagnosis + Procedure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The traditional query of diagnosis code only yielded a PPV of 68.8%, whereas the new query using both diagnosis code and 1 or 2 procedure codes produced a PPV of 100.0%.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>The combination of codes produced results with more confidence than just the typical case-finding process, and could feasibly be used to confirm cases without chart reviews.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Using the diagnosis code and procedure code simultaneously enables a more efficient gastroschisis case-confirmation process and potentially improves overall surveillance.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146040201","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}
Shuyue Deng, Xinyi Liu, Siyu Chen, LinXiao Wan, Wenbin Dong, Lan Kang
Objective
To explore the influence of choline and its derivatives (betaine, phospholipids) on the occurrence and development of neural tube defects.
Methods
A narrative review of the available research evidence (including both animal and human studies), based on literature identified through structured searches of databases (e.g., PubMed) and relevant references.
Results
Choline is an essential nutrient and plays a key role in a variety of physiological processes. Neural tube defects (e.g., anencephaly, spina bifida) are severe congenital malformations of the central nervous system. Folate deficiency is recognized as a major risk factor. Emerging evidence suggests that choline deficiency may become an important risk factor for neural tube defects even in populations where folic acid fortification is implemented. Studies in animals and humans have shown that choline supplementation during pregnancy significantly reduces the risk for neural tube defects.
Conclusion
Choline and its derivatives are essential for neural tube development. Choline deficiency is an important potential risk factor for neural tube defects, especially in the context of folic acid supplementation, and choline supplementation during pregnancy may be effective in reducing its risk.
{"title":"Explore the Role of Choline in the Pathogenesis of Neural Tube Defects","authors":"Shuyue Deng, Xinyi Liu, Siyu Chen, LinXiao Wan, Wenbin Dong, Lan Kang","doi":"10.1002/bdr2.70019","DOIUrl":"10.1002/bdr2.70019","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To explore the influence of choline and its derivatives (betaine, phospholipids) on the occurrence and development of neural tube defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A narrative review of the available research evidence (including both animal and human studies), based on literature identified through structured searches of databases (e.g., PubMed) and relevant references.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Choline is an essential nutrient and plays a key role in a variety of physiological processes. Neural tube defects (e.g., anencephaly, spina bifida) are severe congenital malformations of the central nervous system. Folate deficiency is recognized as a major risk factor. Emerging evidence suggests that choline deficiency may become an important risk factor for neural tube defects even in populations where folic acid fortification is implemented. Studies in animals and humans have shown that choline supplementation during pregnancy significantly reduces the risk for neural tube defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Choline and its derivatives are essential for neural tube development. Choline deficiency is an important potential risk factor for neural tube defects, especially in the context of folic acid supplementation, and choline supplementation during pregnancy may be effective in reducing its risk.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146028223","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}
We reported a rare case of 1p36 deletion syndrome diagnosed using whole-exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource-limited settings.
Methods
Clinical and genetic investigations were conducted on a female neonate presenting with a severe polymalformative syndrome. WES was performed to detect potential genetic abnormalities, followed by validation through fluorescence in situ hybridization (FISH). Variant annotation and classification were done in accordance with ACMG guidelines.
Results
WES identified a heterozygous interstitial deletion in the 1p36 region, spanning 11.64 Mb and affecting 155 coding genes, including key genes such as MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B, and CASZ1. The deletion was classified as pathogenic, and FISH analysis confirmed its presence. Clinically, the patient exhibited intrauterine growth restriction, neonatal epilepsy, craniofacial dysmorphia, congenital heart defect, and agenesis of the corpus callosum.
Conclusion
This is the first reported case in Tunisia of a 1p36 deletion identified via short-read WES. The findings support the expanding role of WES in structural variant detection and underscore its diagnostic value, especially in settings with limited access to chromosomal microarray or genome sequencing technologies.
{"title":"First Detection of 1p36 Deletion by Whole-Exome Sequencing in a Tunisian Patient","authors":"Nesrine Kerkeni, Maher Kharrat, Lilia Kraoua, Ahlem Achour, Faouzi Maazoul, Ridha Mrad, Mediha Trabelsi","doi":"10.1002/bdr2.70017","DOIUrl":"10.1002/bdr2.70017","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Study Objective</h3>\u0000 \u0000 <p>We reported a rare case of 1p36 deletion syndrome diagnosed using whole-exome sequencing (WES) in a Tunisian neonate, and to highlight the utility of WES in detecting structural variants, particularly in resource-limited settings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical and genetic investigations were conducted on a female neonate presenting with a severe polymalformative syndrome. WES was performed to detect potential genetic abnormalities, followed by validation through fluorescence in situ hybridization (FISH). Variant annotation and classification were done in accordance with ACMG guidelines.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>WES identified a heterozygous interstitial deletion in the 1p36 region, spanning 11.64 Mb and affecting 155 coding genes, including key genes such as <i>MMP23B, GABRD, SKI, PRDM16, KCNAB2, RERE, UBE4B,</i> and <i>CASZ1.</i> The deletion was classified as pathogenic, and FISH analysis confirmed its presence. Clinically, the patient exhibited intrauterine growth restriction, neonatal epilepsy, craniofacial dysmorphia, congenital heart defect, and agenesis of the corpus callosum.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>This is the first reported case in Tunisia of a 1p36 deletion identified via short-read WES. The findings support the expanding role of WES in structural variant detection and underscore its diagnostic value, especially in settings with limited access to chromosomal microarray or genome sequencing technologies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12817151/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003019","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}
Elizabeth M. Boos, Meredith Howley, Tomoko Udo, Alexa Freedman, Wilson Miranda, Charles Gonzalez, Rachel Hart-Malloy
Background
Chlamydia trachomatis (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects.
Methods
Using de-identified matched data from the New York State (NYS) Sexually Transmitted Infection Surveillance Registry and live births reported to the NYS Birth Defects Registry from 2010 to 2020, we conducted a retrospective cohort study among pregnancies with one first-trimester CT diagnosis to assess the impact of adequate CT treatment on the risk of selected birth defects.
Results
Pregnancies with evidence of adequate CT treatment during the first trimester were more likely (adjusted risk ratio [ARR]: 3.0, 95% confidence interval [CI]: 1.7–5.2) to have an infant with at least one selected birth defect. This association was attenuated in sensitivity analyses including pregnancies with evidence of adequate treatment any time during pregnancy (ARR: 1.2, 95% CI: 0.7–2.1) and evidence of adequate treatment through the second trimester (ARR: 1.9, 95% CI: 0.8–4.9).
Conclusion
Results did not support the hypothesis that adequate first-trimester CT treatment was associated with a decreased risk of selected birth defects. However, additional investigation is warranted to understand if an association is driven by the timing of infection or treatment.
{"title":"The Impact of Chlamydia Treatment During Pregnancy on Birth Defects in New York State","authors":"Elizabeth M. Boos, Meredith Howley, Tomoko Udo, Alexa Freedman, Wilson Miranda, Charles Gonzalez, Rachel Hart-Malloy","doi":"10.1002/bdr2.70012","DOIUrl":"10.1002/bdr2.70012","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p><i>Chlamydia trachomatis</i> (CT) diagnoses are highest among females of reproductive age. Yet, little is known about adverse infant outcomes associated with treatment for CT infections during pregnancy, including birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using de-identified matched data from the New York State (NYS) Sexually Transmitted Infection Surveillance Registry and live births reported to the NYS Birth Defects Registry from 2010 to 2020, we conducted a retrospective cohort study among pregnancies with one first-trimester CT diagnosis to assess the impact of adequate CT treatment on the risk of selected birth defects.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Pregnancies with evidence of adequate CT treatment during the first trimester were more likely (adjusted risk ratio [ARR]: 3.0, 95% confidence interval [CI]: 1.7–5.2) to have an infant with at least one selected birth defect. This association was attenuated in sensitivity analyses including pregnancies with evidence of adequate treatment any time during pregnancy (ARR: 1.2, 95% CI: 0.7–2.1) and evidence of adequate treatment through the second trimester (ARR: 1.9, 95% CI: 0.8–4.9).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Results did not support the hypothesis that adequate first-trimester CT treatment was associated with a decreased risk of selected birth defects. However, additional investigation is warranted to understand if an association is driven by the timing of infection or treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12816446/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146003060","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}
Paul J. Villeneuve, Ann Aschengrau, Michelle L. Bell, Yang Cao, Mark Elwood, Guy Eslick, Shelley Harris, Leeka Kheifets, Babak Khoshnood, Robert Norman, Nelson Pace, Johan Reutfors, Jeremy M. Schraw, Jose R. Suarez-Lopez, Gunnar Toft, R. Douglas Wilson, Christopher R. Kirman, Tyler Carneal, Sean M. Hays
Background
Adverse birth outcomes are important public health measures and account for a substantial public health burden. There is considerable diversity of these health endpoints, as well as in the many factors suspected or recognized to increase their risk. This diversity renders it challenging to synthesize the totality of the evidence by carrying out a systematic review.
Methods
We undertook an expert elicitation to characterize the state of the literature on this topic, the interconnections amongst risk factors, and identify those that are a priority for future research. A panel of 30 scientists and physicians with expertise in birth outcome epidemiology were solicited to identify a series of health outcomes, and associated risk factors.
Results
This resulted in a listing of 15 birth outcomes, and 247 possible risk factors in total, with varying numbers of risk factors for each health outcome. Each panel member was asked to score the weight of evidence (WOE) of each risk factor and birth outcome combination (n = 1127) on a scale of 1 (no evidence) to 5 (strong evidence) for which the expert had a working knowledge of the literature. Not all experts scored each/every outcome/risk factor combination, reflecting the different types of expertise on the panel. The compilation of these WOE scores was used to create a publicly available database for birth outcomes risk factors (https://scipinion-rfbo.onrender.com) that is intended to be updated over time so as to serve as an up to date resource for the research and medical community.
Conclusions
This expert approach serves as a unique and valuable approach to data reduction that can help to inform research priorities, while providing an open access resource to identify risk factors that may act as confounders and/or modifiers in future epidemiology studies and clinical trials.
{"title":"The Creation of a Weight of Evidence Scoring Database for Risk Factors for Adverse Impacts to Birth Outcomes Using Expert Elicitation","authors":"Paul J. Villeneuve, Ann Aschengrau, Michelle L. Bell, Yang Cao, Mark Elwood, Guy Eslick, Shelley Harris, Leeka Kheifets, Babak Khoshnood, Robert Norman, Nelson Pace, Johan Reutfors, Jeremy M. Schraw, Jose R. Suarez-Lopez, Gunnar Toft, R. Douglas Wilson, Christopher R. Kirman, Tyler Carneal, Sean M. Hays","doi":"10.1002/bdr2.70011","DOIUrl":"10.1002/bdr2.70011","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Adverse birth outcomes are important public health measures and account for a substantial public health burden. There is considerable diversity of these health endpoints, as well as in the many factors suspected or recognized to increase their risk. This diversity renders it challenging to synthesize the totality of the evidence by carrying out a systematic review.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We undertook an expert elicitation to characterize the state of the literature on this topic, the interconnections amongst risk factors, and identify those that are a priority for future research. A panel of 30 scientists and physicians with expertise in birth outcome epidemiology were solicited to identify a series of health outcomes, and associated risk factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>This resulted in a listing of 15 birth outcomes, and 247 possible risk factors in total, with varying numbers of risk factors for each health outcome. Each panel member was asked to score the weight of evidence (WOE) of each risk factor and birth outcome combination (<i>n</i> = 1127) on a scale of 1 (no evidence) to 5 (strong evidence) for which the expert had a working knowledge of the literature. Not all experts scored each/every outcome/risk factor combination, reflecting the different types of expertise on the panel. The compilation of these WOE scores was used to create a publicly available database for birth outcomes risk factors (https://scipinion-rfbo.onrender.com) that is intended to be updated over time so as to serve as an up to date resource for the research and medical community.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This expert approach serves as a unique and valuable approach to data reduction that can help to inform research priorities, while providing an open access resource to identify risk factors that may act as confounders and/or modifiers in future epidemiology studies and clinical trials.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12811082/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145988035","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}
S. Gomathi, H. Radha, G. Bhanuprakash Reddy, S. Sreenivasa Reddy
Background
Riboflavin (vitamin B2) is crucial for energy metabolism and several physiological processes. Pregnant women have a greater chance of being riboflavin-deficient, but its effects on offspring development remain understudied.
Methods
Two-month-old female Wistar (WNIN) rats were randomly divided into three groups: control (AIN-93G diet with 5 mg/kg riboflavin), pair-fed, and riboflavin-deficient (0.5 mg/kg). After 6 weeks, riboflavin deficiency was confirmed in the riboflavin-deficient group. All groups of rats were allowed to mate with male littermates. The pups stayed with their mothers during lactation and received a diet similar to the mothers' during weaning. Four pup groups were studied: control, pair-fed, deficient, and replenished. Blood FAD levels were estimated using HPLC. Reproductive indices in dams, developmental milestones, and morphometric data in pups were assessed. Pups were maintained for 6 weeks (postnatal day 42) before being sacrificed.
Results
Adult female rats fed a riboflavin-deficient diet showed decreased body weight. While maternal fertility and pregnancy indices were unaffected, litter size was reduced in the riboflavin-deficient group of dams. Pups born to deficient dams exhibited delayed milestones, including pinna unfolding, eye slit formation, and fur coat formation. Morphometric measures, such as body weight, body length, and abdominal circumference, were significantly lower. Post-weaning mortality was higher in the deficient group, likely due to hypoglycemia. Replenishment with a riboflavin-sufficient diet partially improved the outcomes.
Conclusion
Maternal riboflavin deficiency impairs offspring growth and developmental milestones. Adequate maternal riboflavin intake is critical for ensuring optimal fetal and postnatal development.
{"title":"Impact of Maternal Riboflavin Deficiency on the Growth and Development of Offspring Rats","authors":"S. Gomathi, H. Radha, G. Bhanuprakash Reddy, S. Sreenivasa Reddy","doi":"10.1002/bdr2.70013","DOIUrl":"https://doi.org/10.1002/bdr2.70013","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Riboflavin (vitamin B2) is crucial for energy metabolism and several physiological processes. Pregnant women have a greater chance of being riboflavin-deficient, but its effects on offspring development remain understudied.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two-month-old female Wistar (WNIN) rats were randomly divided into three groups: control (AIN-93G diet with 5 mg/kg riboflavin), pair-fed, and riboflavin-deficient (0.5 mg/kg). After 6 weeks, riboflavin deficiency was confirmed in the riboflavin-deficient group. All groups of rats were allowed to mate with male littermates. The pups stayed with their mothers during lactation and received a diet similar to the mothers' during weaning. Four pup groups were studied: control, pair-fed, deficient, and replenished. Blood FAD levels were estimated using HPLC. Reproductive indices in dams, developmental milestones, and morphometric data in pups were assessed. Pups were maintained for 6 weeks (postnatal day 42) before being sacrificed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Adult female rats fed a riboflavin-deficient diet showed decreased body weight. While maternal fertility and pregnancy indices were unaffected, litter size was reduced in the riboflavin-deficient group of dams. Pups born to deficient dams exhibited delayed milestones, including pinna unfolding, eye slit formation, and fur coat formation. Morphometric measures, such as body weight, body length, and abdominal circumference, were significantly lower. Post-weaning mortality was higher in the deficient group, likely due to hypoglycemia. Replenishment with a riboflavin-sufficient diet partially improved the outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Maternal riboflavin deficiency impairs offspring growth and developmental milestones. Adequate maternal riboflavin intake is critical for ensuring optimal fetal and postnatal development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 1","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145904814","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}
Pin-Chia Huang, Krista F. Huybrechts, Loreen Straub, Jeremy P. Brown, Brian Bateman, Sonia Hernández-Díaz
Background
To compare the risk of pregnancy loss and the prevalence of specific major congenital malformations (MCMs) in newborns between mothers with pregestational diabetes mellitus (DM) type 1 (T1DM) and type 2 (T2DM).
Methods
We used the Merative MarketScan Commercial Claims and Encounters Database (2011–2021) to identify pregnancies among women enrolled from 180 days before to 280 days after the last menstrual period. Diabetes types, pregnancy losses, and MCMs diagnosed within 90 days after birth were identified using validated algorithms. Antidiabetic treatments were used as a proxy for T2DM progression. Analyses of MCMs were restricted to live birth pregnancies linked to infants.
Results
Of 2,090,452 eligible pregnancies, 4584 had T1DM and 14,156 had T2DM diagnoses recorded. The spontaneous abortion risk was 17.5% for mothers with T1DM, 21.7% for mothers with T2DM, and 15.9% for mothers without DM. The stillbirth risk was 0.8%, 0.9%, and 0.4%, respectively. The largest adjusted odds ratios relative to no DM were for cardiac malformations for both T1DM (2.79, 95% CI 2.13–3.64) and T2DM (2.02, 95% CI 1.74–2.35). The prevalence of central nervous system, urinary, gastrointestinal, and musculoskeletal malformations was also elevated for both DM types; although they were slightly more frequent in the offspring of mothers with T1DM (which is mostly insulin dependent) compared to T2DM. Among mothers with T2DM, MCM risk was highest in those on insulin therapy.
Conclusions
Relative to mothers without pregestational DM, mothers with T2DM had higher risks of spontaneous abortion, and mothers with T1DM or T2DM had a higher risk of stillbirths and a higher prevalence of many different MCMs in their offspring. Within patients with T2DM, the risk of MCM depended on disease progression.
背景：比较妊娠期糖尿病（DM） 1型（T1DM）和2型（T2DM）母亲的流产风险和新生儿特异性重大先天性畸形（mcm）患病率。方法：我们使用Merative MarketScan商业索赔和遭遇数据库（2011-2021年）来确定在最后一次月经前180天至后280天内入组的妇女的妊娠情况。使用经过验证的算法确定出生后90天内诊断的糖尿病类型、妊娠损失和mcm。降糖治疗被用作T2DM进展的替代指标。mcm的分析仅限于与婴儿相关的活产妊娠。结果：在2,090,452例符合条件的妊娠中，4584例诊断为T1DM， 14,156例诊断为T2DM。1型糖尿病母亲的自然流产风险为17.5%，2型糖尿病母亲为21.7%，无糖尿病母亲为15.9%。死产风险分别为0.8%、0.9%和0.4%。T1DM （2.79, 95% CI 2.13-3.64）和T2DM （2.02, 95% CI 1.74-2.35）的心脏畸形与无糖尿病的校正比值比最大。在两种糖尿病类型中，中枢神经系统、泌尿系统、胃肠道和肌肉骨骼畸形的患病率也有所升高；尽管与2型糖尿病相比，1型糖尿病（主要依赖胰岛素）母亲的后代患糖尿病的几率略高。在患有2型糖尿病的母亲中，接受胰岛素治疗的母亲患MCM的风险最高。结论：与没有妊娠期糖尿病的母亲相比，患有T2DM的母亲自然流产的风险更高，患有T1DM或T2DM的母亲死产的风险更高，其后代中许多不同mcm的患病率更高。在T2DM患者中，MCM的风险取决于疾病进展。
{"title":"Maternal Diabetes Types and the Risk of Pregnancy Loss and Specific Malformations in the Infant","authors":"Pin-Chia Huang, Krista F. Huybrechts, Loreen Straub, Jeremy P. Brown, Brian Bateman, Sonia Hernández-Díaz","doi":"10.1002/bdr2.70009","DOIUrl":"10.1002/bdr2.70009","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>To compare the risk of pregnancy loss and the prevalence of specific major congenital malformations (MCMs) in newborns between mothers with pregestational diabetes mellitus (DM) type 1 (T1DM) and type 2 (T2DM).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used the Merative MarketScan Commercial Claims and Encounters Database (2011–2021) to identify pregnancies among women enrolled from 180 days before to 280 days after the last menstrual period. Diabetes types, pregnancy losses, and MCMs diagnosed within 90 days after birth were identified using validated algorithms. Antidiabetic treatments were used as a proxy for T2DM progression. Analyses of MCMs were restricted to live birth pregnancies linked to infants.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 2,090,452 eligible pregnancies, 4584 had T1DM and 14,156 had T2DM diagnoses recorded. The spontaneous abortion risk was 17.5% for mothers with T1DM, 21.7% for mothers with T2DM, and 15.9% for mothers without DM. The stillbirth risk was 0.8%, 0.9%, and 0.4%, respectively. The largest adjusted odds ratios relative to no DM were for cardiac malformations for both T1DM (2.79, 95% CI 2.13–3.64) and T2DM (2.02, 95% CI 1.74–2.35). The prevalence of central nervous system, urinary, gastrointestinal, and musculoskeletal malformations was also elevated for both DM types; although they were slightly more frequent in the offspring of mothers with T1DM (which is mostly insulin dependent) compared to T2DM. Among mothers with T2DM, MCM risk was highest in those on insulin therapy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Relative to mothers without pregestational DM, mothers with T2DM had higher risks of spontaneous abortion, and mothers with T1DM or T2DM had a higher risk of stillbirths and a higher prevalence of many different MCMs in their offspring. Within patients with T2DM, the risk of MCM depended on disease progression.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145762283","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}
Renata H. Benjamin, Katherine L. Ludorf, Rachel P. Allred, Jenil R. Patel, Wendy N. Nembhard, Gary M. Shaw, Suzan L. Carmichael, Tania A. Desrosiers, Eirini Nestoridi, Eva M. Williford, A. J. Agopian, the National Birth Defects Prevention Study and the Birth Defects Study To Evaluate Pregnancy exposureS
Background
We sought to assess the extent to which folic acid supplementation and dietary folate intake are associated with preterm delivery among infants with spina bifida.
Methods
We conducted a retrospective population-based study using the National Birth Defects Prevention Study (NBDPS; 1999–2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS; 2014–2019). We utilized robust Poisson regression to calculate the risk ratio (RR) and 95% confidence interval (CI) for the associations between preterm birth (< 37 weeks) and maternal use of folic acid-containing supplements, dietary folate intake quartile, and a combined variable accounting for supplementation and dietary folate status.
Results
Among 1199 infants with spina bifida (1011 in NBDPS, 188 in BD-STEPS), 217 (18.1%) were born preterm. There were no statistically significant associations between preterm birth and lack of supplementation (RR 1.24, 95% CI: 0.92–1.69) or maternal dietary folate intake quartile (RRs 1.12–1.39). The combination of lack of supplementation and low dietary folate intake had the strongest association with preterm birth (RR 1.73, 95% CI: 1.01–2.96), compared to women who took supplements and had higher dietary folate intake.
Conclusions
Our findings suggest a modestly elevated risk of preterm birth among infants with spina bifida born to women with the combination of no supplementation and low dietary folate intake. Future work confirming these findings and further investigating the timing of supplementation could help elucidate whether low folate intake is a risk factor for preterm birth in spina bifida–affected pregnancies.
{"title":"Maternal Folic Acid Supplement Use, Folate Intake, and Preterm Birth Among Infants With Spina Bifida","authors":"Renata H. Benjamin, Katherine L. Ludorf, Rachel P. Allred, Jenil R. Patel, Wendy N. Nembhard, Gary M. Shaw, Suzan L. Carmichael, Tania A. Desrosiers, Eirini Nestoridi, Eva M. Williford, A. J. Agopian, the National Birth Defects Prevention Study and the Birth Defects Study To Evaluate Pregnancy exposureS","doi":"10.1002/bdr2.70008","DOIUrl":"10.1002/bdr2.70008","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>We sought to assess the extent to which folic acid supplementation and dietary folate intake are associated with preterm delivery among infants with spina bifida.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We conducted a retrospective population-based study using the National Birth Defects Prevention Study (NBDPS; 1999–2011) and the Birth Defects Study To Evaluate Pregnancy exposureS (BD-STEPS; 2014–2019). We utilized robust Poisson regression to calculate the risk ratio (RR) and 95% confidence interval (CI) for the associations between preterm birth (< 37 weeks) and maternal use of folic acid-containing supplements, dietary folate intake quartile, and a combined variable accounting for supplementation and dietary folate status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 1199 infants with spina bifida (1011 in NBDPS, 188 in BD-STEPS), 217 (18.1%) were born preterm. There were no statistically significant associations between preterm birth and lack of supplementation (RR 1.24, 95% CI: 0.92–1.69) or maternal dietary folate intake quartile (RRs 1.12–1.39). The combination of lack of supplementation and low dietary folate intake had the strongest association with preterm birth (RR 1.73, 95% CI: 1.01–2.96), compared to women who took supplements and had higher dietary folate intake.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings suggest a modestly elevated risk of preterm birth among infants with spina bifida born to women with the combination of no supplementation and low dietary folate intake. Future work confirming these findings and further investigating the timing of supplementation could help elucidate whether low folate intake is a risk factor for preterm birth in spina bifida–affected pregnancies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.70008","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145740883","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}
Surveillance of critical congenital heart defects (CCHDs) is important for research and public health practice. The recent implementation of universal pulse oximetry (POX) screening may provide an additional resource for improving the completeness of CCHD surveillance data. This analysis evaluates the utility of multiple data sources, including POX records, for CCHD case identification.
Methods
Using the cohort of CCHD cases confirmed by the North Carolina Birth Defects Monitoring Program born 2018–2021 (N = 1035), sensitivity values were calculated for birth, infant death, and fetal death certificates; hospital discharge records; and POX records. Sensitivity was defined as the percentage of confirmed CCHD cases identifiable from a given data source. Sensitivity values were also stratified by demographic and clinical characteristics of cases.
Results
The sensitivity of the data sources for case identification varied widely: birth certificate (6.7%; 95% confidence interval [CI]: 5.1–8.3); fetal death certificate (29.8%; 95% CI: 18.0–41.7); POX record (59.5%; 95% CI: 56.2–62.8); infant death certificate (73.0%; 95% CI: 66.7–79.3); and discharge record (89.9%; 95% CI: 88.0–91.8). Sensitivity values for some data sources were significantly higher for cases delivered in larger hospitals, transferred after delivery, admitted to the neonatal intensive care unit, or prenatally diagnosed.
Conclusions
The POX record was only moderately sensitive, in part due to missing records, limiting its added value for case finding, though improvements in reporting may increase its utility. To help optimize staff time and resources, surveillance programs should consider the utility of supplemental data sources for CCHD case ascertainment.
{"title":"Evaluation of Data Sources for Critical Congenital Heart Defect Case Ascertainment in North Carolina","authors":"Helen Atkinson, Kristin Bergman, Nina Forestieri","doi":"10.1002/bdr2.70005","DOIUrl":"10.1002/bdr2.70005","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Surveillance of critical congenital heart defects (CCHDs) is important for research and public health practice. The recent implementation of universal pulse oximetry (POX) screening may provide an additional resource for improving the completeness of CCHD surveillance data. This analysis evaluates the utility of multiple data sources, including POX records, for CCHD case identification.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using the cohort of CCHD cases confirmed by the North Carolina Birth Defects Monitoring Program born 2018–2021 (<i>N</i> = 1035), sensitivity values were calculated for birth, infant death, and fetal death certificates; hospital discharge records; and POX records. Sensitivity was defined as the percentage of confirmed CCHD cases identifiable from a given data source. Sensitivity values were also stratified by demographic and clinical characteristics of cases.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The sensitivity of the data sources for case identification varied widely: birth certificate (6.7%; 95% confidence interval [CI]: 5.1–8.3); fetal death certificate (29.8%; 95% CI: 18.0–41.7); POX record (59.5%; 95% CI: 56.2–62.8); infant death certificate (73.0%; 95% CI: 66.7–79.3); and discharge record (89.9%; 95% CI: 88.0–91.8). Sensitivity values for some data sources were significantly higher for cases delivered in larger hospitals, transferred after delivery, admitted to the neonatal intensive care unit, or prenatally diagnosed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The POX record was only moderately sensitive, in part due to missing records, limiting its added value for case finding, though improvements in reporting may increase its utility. To help optimize staff time and resources, surveillance programs should consider the utility of supplemental data sources for CCHD case ascertainment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145740904","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}
Alexandra Koops, Rebecca Howell, Rachel P. Allred, Hye Na Jeon, Charles Shumate
Background
Electronic case reporting (eCR) is increasingly used by public health agencies to support disease surveillance. Its utility for birth defects surveillance remains unexplored. This project aimed to evaluate birth defects surveillance staff experiences and perceptions of eCR data to identify its challenges, benefits, and opportunities for improvement in birth defects surveillance.
Methods
Two virtual, 1-h focus groups were conducted with 15 staff from the Texas Birth Defects Registry (TBDR) who had participated in a pilot evaluation of electronic initial case reports (eICRs). The focus groups explored staff experiences with identifying and abstracting cases from eICRs and how these experiences compared to abstraction from electronic health records (EHRs). Discussions followed a structured interview guide with six broad question categories. Detailed notes were taken during the sessions and analyzed using thematic analysis to identify common themes and patterns.
Results
Thematic analysis identified six key themes related to the eICR: Structure; Quality and Completeness; Comparison with EHRs; Technical and Workflow Challenges; Usefulness and Potential Applications; and Recommendations to Strengthen its Utility for Birth Defect Surveillance.
Conclusions
Staff reported that while eCR offers potential advantages, such as serving as a data source for case-finding, significant challenges remain. These include issues with eICR structure, data completeness, and integration into existing workflows. Recommended improvements include better organization of eICR data, inclusion of additional clinical details, and development of standardized abstraction protocols. These findings can inform strategies to optimize eCR for birth defects surveillance and point to the need for national guidelines.
{"title":"Staff Experiences With Electronic Initial Case Reports for Birth Defects Surveillance in Texas","authors":"Alexandra Koops, Rebecca Howell, Rachel P. Allred, Hye Na Jeon, Charles Shumate","doi":"10.1002/bdr2.70002","DOIUrl":"10.1002/bdr2.70002","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Electronic case reporting (eCR) is increasingly used by public health agencies to support disease surveillance. Its utility for birth defects surveillance remains unexplored. This project aimed to evaluate birth defects surveillance staff experiences and perceptions of eCR data to identify its challenges, benefits, and opportunities for improvement in birth defects surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two virtual, 1-h focus groups were conducted with 15 staff from the Texas Birth Defects Registry (TBDR) who had participated in a pilot evaluation of electronic initial case reports (eICRs). The focus groups explored staff experiences with identifying and abstracting cases from eICRs and how these experiences compared to abstraction from electronic health records (EHRs). Discussions followed a structured interview guide with six broad question categories. Detailed notes were taken during the sessions and analyzed using thematic analysis to identify common themes and patterns.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Thematic analysis identified six key themes related to the eICR: Structure; Quality and Completeness; Comparison with EHRs; Technical and Workflow Challenges; Usefulness and Potential Applications; and Recommendations to Strengthen its Utility for Birth Defect Surveillance.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Staff reported that while eCR offers potential advantages, such as serving as a data source for case-finding, significant challenges remain. These include issues with eICR structure, data completeness, and integration into existing workflows. Recommended improvements include better organization of eICR data, inclusion of additional clinical details, and development of standardized abstraction protocols. These findings can inform strategies to optimize eCR for birth defects surveillance and point to the need for national guidelines.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"117 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2025-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145740927","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}
扫码关注我们
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号