Birth Defects Research最新文献

{"title":"Neighborhood Economic Deprivation, Hispanic Ethnic Enclaves, and Congenital Anomalies in Texas.","authors":"Jeremy M Schraw, Rutu A Rathod, Amy E Hughes, Sandi L Pruitt, Russell S Kirby, Gary M Shaw, Philip J Lupo","doi":"10.1002/bdr2.70114","DOIUrl":"10.1002/bdr2.70114","url":null,"abstract":"<p><strong>Background: </strong>Congenital anomalies are common, costly, and potentially life-threatening. The impacts of structural determinants of health on risk for these conditions have scarcely been studied. We evaluated associations between residence in economically disadvantaged neighborhoods or Hispanic/Latino enclaves and congenital anomalies.</p><p><strong>Methods: </strong>We performed a registry linkage study of 7.25 million births and 332,935 cases with anomalies in Texas, 1999-2018. We defined exposure groups using maternal residential address at delivery or termination and tract-level Yost socioeconomic index and Hispanic/Latino enclave index scores: high neighborhood socioeconomic status (nSES)-non-enclave (referent), high nSES-enclave, low nSES-non-enclave, and low nSES-enclave. We estimated adjusted birth prevalence ratios (aPRs) and 95% confidence intervals (CIs) for 146 congenital anomalies using Poisson regression.</p><p><strong>Results: </strong>Maternal residence in a low nSES area was associated with increased prevalence of microcephaly, atrial septal defect, pulmonary artery and pulmonary valve anomalies, patent ductus arteriosus, anomalies of the great veins, polydactyly, and Down syndrome (PRs 1.06-1.96) but decreased prevalence of hypospadias, epispadias, and chordee (PRs 0.67-0.89). Maternal residence in an enclave was associated with increased prevalence of ventricular septal defect, pulmonary artery anomalies, female genital anomalies, and Down syndrome (PRs 1.09-1.96). Pyloric stenosis was associated with residence in a low nSES neighborhood (enclave: PR 1.09, CI 1.03-1.14; non-enclave: PR 1.12, CI 1.06-1.17) and inversely associated with residence in a high nSES enclave (PR 0.89, CI 0.80-0.98).</p><p><strong>Conclusions: </strong>Neighborhood socioeconomic and sociodemographic factors are associated with congenital anomalies, suggesting differences in risk factors or ascertainment in economically disadvantaged neighborhoods or Hispanic/Latino enclaves.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 9","pages":"e70114"},"PeriodicalIF":2.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530317/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148863630","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Anomaly Prevalence: A 10-Year Retrospective Study in a Tertiary Hospital in Turkey.","authors":"Hülya Çetin, Serhan Sorkun, İlknur Lafcı, Derya Kılıç, Babür Kaleli, Özmert Muhammet Ali Özdemir, Bilgin Kıray Vural","doi":"10.1002/bdr2.70113","DOIUrl":"10.1002/bdr2.70113","url":null,"abstract":"<p><strong>Objective: </strong>Congenital anomalies (CA) are health problems that can significantly affect individuals, families, health systems, and society. Our aim is to present the characteristics of CA observed in babies born at our institution between 2014 and 2023, including the Covid-19 pandemic period.</p><p><strong>Materials and methods: </strong>Retrospective data obtained from the delivery room records and hospital information system of Pamukkale University Hospital were analyzed.</p><p><strong>Results: </strong>During the 10-year period covered by our study at our institution, 16,030 births occurred, and 941 (5.87%) newborns were diagnosed with CA. The most common anomalies were cardiovascular system (CVS) (42%), other congenital malformations (5%), musculoskeletal system (4%), and central nervous system (CNS) anomalies (7%). Two hundred twenty-nine newborns (24%) were found to have multiple congenital anomalies. The prevalence of CA was higher in 2020, 2021, and 2022 (during the COVID-19 pandemic) compared to other years. The mortality rate among newborns with CA was 21.25%. Of the CA babies who died, 37.5% had CVS, 30% had multiple anomalies, and 9% had CNS anomalies. The mortality rate due to congenital anomalies, based on the total number of births in our hospital, was 1.25%.</p><p><strong>Conclusion: </strong>We found that the mortality rate among newborns with CA was 21.25% and that the incidence of anomalies increased during the COVID-19 pandemic. Multidisciplinary efforts are required to provide parents with the necessary information during pregnancy and the prepregnancy planning period. It is crucial to examine the prevalence of CA during the Covid-19 pandemic period in other regional studies and to evaluate the impact of such epidemics on anomalies.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 9","pages":"e70113"},"PeriodicalIF":2.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13534327/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872940","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Rise of Regulatogens: A Crisis of Insouciance and Dilettantism in the Regulatory DART World-And How We Must Fix It.","authors":"John M DeSesso","doi":"10.1002/bdr2.70116","DOIUrl":"10.1002/bdr2.70116","url":null,"abstract":"<p><p>Developmental and reproductive toxicity testing (DART) safety tests are expensive and time-consuming. The future of DART testing is trending toward in vitro and in silico systems (and potentially artificial intelligence). Forward-looking academic programs have embraced the new test systems, but regulatory decisions remain based on decades-old, whole-animal testing. Many regulatory scientists have neither whole-animal DART testing experience nor academic training in embryology/developmental biology, comparative anatomy, and epidemiology. Consequently, some new medicines and chemicals have been misidentified as developmental toxicants by those eager to protect the public but lacking requisite in-depth DART/epidemiology training/experience to make informed interpretations. Additionally, some unqualified individuals have been appointed to health leadership roles. Sadly, their mandates are often accepted forthwith, foregoing independent evaluation by experts, resulting in misclassification of substances as \"teratogens by fiat\"-Regulatogens. Potential long-term remedies to address this crisis are discussed, but implementation and effective results will take years. Immediate remedies require qualified scientists/experts to step forward and challenge the validity and interpretation of poor science/improper interpretation underlying decisions that lack rigor, and proffer appropriately interpreted data with conclusions that are explainable to all stakeholders, including the public.</p>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 9","pages":"e70116"},"PeriodicalIF":2.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13538267/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148879171","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nicotine Exposure During Gestation: From Placental Dysfunction to Long-Term Neurobehavioral Outcomes.","authors":"Harsh Dave, Shubham Maru, Kaid Johar Sr","doi":"10.1002/bdr2.70115","DOIUrl":"10.1002/bdr2.70115","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Prenatal nicotine exposure (PNE) remains a significant public health concern due to persistent tobacco use, electronic nicotine delivery systems, and second-hand exposure during pregnancy. Epidemiological and experimental evidence has demonstrated that nicotine can readily cross the placenta, disrupt placental development, and interfere with tightly regulated processes of fetal organogenesis. These early perturbations are increasingly recognized as initiating a cascade of structural, functional, and molecular alterations that extend beyond gestation and influence health trajectories across the lifespan. However, existing studies are often compartmentalized by developmental stage, limiting mechanistic integration across prenatal, natal, postnatal, and later-life outcomes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;This review aims to (i) synthesize evidence from placental biology, developmental toxicology, neurobiology, and epigenetics to propose an integrated, life-course cascade model of PNE; (ii) delineate how nicotine-induced placental dysfunction and fetal hypoxia during prenatal development transition into structural, physiological, perinatal autonomic, and cardiorespiratory vulnerability, contributing to adverse birth outcomes and increased risk of sudden infant death syndrome; and (iii) examine how early disruption of nicotinic acetylcholine receptor mediated signaling alters neuronal differentiation, synaptic maturation, neuroimmune interactions, and stress-response pathways, leading to persistent cognitive, behavioral, and psychiatric susceptibility in postnatal life and adulthood. Emerging evidence for epigenetic reprogramming, sex-specific vulnerability, and intergenerational transmission, including paternal contributions, is also evaluated.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;Evidence synthesized across placental biology, developmental toxicology, neurobiology, and epigenetics supports a cascade in which nicotine-induced placental dysfunction and fetal hypoxia contribute to structural, physiological, perinatal autonomic, and cardiorespiratory vulnerability, adverse birth outcomes, and increased risk of sudden infant death syndrome. Early disruption of nicotinic acetylcholine receptor-mediated signaling is associated with alterations in neuronal differentiation, synaptic maturation, neuroimmune interactions, and stress-response pathways, contributing to persistent cognitive, behavioral, and psychiatric susceptibility in postnatal life and adulthood. Emerging evidence also supports roles for epigenetic reprogramming, sex-specific vulnerability, and intergenerational transmission, including paternal contributions.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;By integrating temporally distinct findings into a unified mechanistic framework, this review identifies critical developmental windows and molecular targets for intervention. Such an approach is essential for advancing preventive strategies, informing public health policy, an","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 9","pages":"e70115"},"PeriodicalIF":2.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148886427","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Food-Borne Environmental Contaminants, Intestinal Injury, and Early Childhood Stunting: A Developmental Toxicology Perspective","authors":"Tian Kai Zhang,&nbsp;Yan Xia Qu,&nbsp;Jian Lin Li,&nbsp;Jing Han Wang,&nbsp;Xing Long Ren,&nbsp;Zhi Tao Lu","doi":"10.1002/bdr2.70112","DOIUrl":"https://doi.org/10.1002/bdr2.70112","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Childhood stunting (height-for-age z-score &lt; −2 SD) remains a global developmental health burden. Traditional interventions centered on nutrition and infection have reached a bottleneck. Emerging evidence identifies chronic low-dose dietary environmental toxins as an independent, modifiable risk factor for early-life growth restriction.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This review synthesizes cohort studies, meta-analyses, and in vivo toxicological models published over the past decade to characterize exposures to mycotoxins, toxic heavy metals, and food-borne endocrine disruptors that are closely associated with stunting.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Multi-layered mechanisms are elucidated, including environmental enteric dysfunction (EED), intestinal barrier disruption, persistent subclinical inflammation, GH-IGF-1 axis disturbance, gut microbiota dysbiosis, oxidative stress, and epigenetic alterations, which collectively impair linear growth. Critical surveillance gaps are identified, and integrated environment–nutrition–infection intervention strategies aligned with public health practice are proposed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Dietary environmental toxins cause irreversible developmental deficits by damaging intestinal function and disrupting endocrine regulation. Strengthening developmental toxicology-oriented monitoring and source control will support precise prevention of early childhood stunting within the critical first 1000-day window.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 9","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148849029","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction to “Opportunities and Challenges for Surveillance of Congenital Anomalies in Sub-Saharan Africa”","authors":"","doi":"10.1002/bdr2.70103","DOIUrl":"10.1002/bdr2.70103","url":null,"abstract":"&lt;p&gt;\u0000 &lt;span&gt;Kalk, E.&lt;/span&gt;, &lt;span&gt;H. L. Malherbe&lt;/span&gt;, &lt;span&gt;U. C. Mehta&lt;/span&gt;, et al. &lt;span&gt;2026&lt;/span&gt;. “ &lt;span&gt;Opportunities and Challenges for Surveillance of Congenital Anomalies in Sub-Saharan Africa&lt;/span&gt;.” &lt;i&gt;Birth Defects Research&lt;/i&gt;, &lt;span&gt;118&lt;/span&gt;, no. &lt;span&gt;6&lt;/span&gt;: e70075. https://doi.org/10.1002/bdr2.70075.\u0000 &lt;/p&gt;&lt;p&gt;In the originally published article, the author list was in the incorrect order. The correct order is shown below. The online version of this article has been corrected. We apologize for this error.&lt;/p&gt;&lt;p&gt;Incorrect:&lt;/p&gt;&lt;p&gt;Emma Kalk&lt;sup&gt;1&lt;/sup&gt;, Helen Louise Malherbe&lt;sup&gt;2&lt;/sup&gt;, Ushma C. Mehta&lt;sup&gt;3&lt;/sup&gt;, Daniel Mumpe-Mwanja&lt;sup&gt;4&lt;/sup&gt;, Modiegi Dianah Diseko&lt;sup&gt;5&lt;/sup&gt;, Adejumoke Idowu Ayede&lt;sup&gt;6&lt;/sup&gt;, Phyllis Kisa&lt;sup&gt;7&lt;/sup&gt;, Caroline Bonareri Osoro&lt;sup&gt;8,9&lt;/sup&gt;, George Bello&lt;sup&gt;10&lt;/sup&gt;, Lee Fairlie&lt;sup&gt;11&lt;/sup&gt;, Audrey Chepkemoi&lt;sup&gt;12&lt;/sup&gt;, Hamisi K. Shabani&lt;sup&gt;13&lt;/sup&gt;, Ali Sie&lt;sup&gt;14&lt;/sup&gt;, Samrawit Abebaw Tegene&lt;sup&gt;15&lt;/sup&gt;, Robert Serunjogi&lt;sup&gt;4&lt;/sup&gt;, Aminkeng Zawuo Leke&lt;sup&gt;16&lt;/sup&gt;, Helen Dolk&lt;sup&gt;17&lt;/sup&gt;, Linda Barlow Mosha&lt;sup&gt;4,18&lt;/sup&gt;, on behalf of the sub-Saharan African Congenital Anomalies Network (sSCAN)&lt;/p&gt;&lt;p&gt;&lt;sup&gt;1&lt;/sup&gt;Centre for Integrated Data and Epidemiological Research, School of Public Health, University of Cape Town, Cape Town, South Africa&lt;/p&gt;&lt;p&gt;&lt;sup&gt;2&lt;/sup&gt;Centre for Human Metabolomics, Desmond Tutu School of Medicine, Faculty of Health Sciences, North-West University, Potchefstroom, South Africa&lt;/p&gt;&lt;p&gt;&lt;sup&gt;3&lt;/sup&gt;Division of Clinical Pharmacology, Department of Medicine, University of Cape Town, Cape Town, South Africa&lt;/p&gt;&lt;p&gt;&lt;sup&gt;4&lt;/sup&gt;Makerere University–Johns Hopkins University Research Collaboration (MU-JHU), Kampala, Uganda&lt;/p&gt;&lt;p&gt;&lt;sup&gt;5&lt;/sup&gt;Botswana Harvard Health Partnership, Gaborone, Botswana&lt;/p&gt;&lt;p&gt;&lt;sup&gt;6&lt;/sup&gt;Department of Paediatrics, College of Medicine, University of Ibadan and University College Hospital, Ibadan, Nigeria and Centre for African Newborn Health and Nutrition, University College Hospital, Ibadan, Nigeria&lt;/p&gt;&lt;p&gt;&lt;sup&gt;7&lt;/sup&gt;Makerere University College of Health Sciences, Kampala, Uganda&lt;/p&gt;&lt;p&gt;&lt;sup&gt;8&lt;/sup&gt;International Training and Education Centre, Malawi and Ministry of Health, Public Health Institute of Malawi, Lilongwe, Malawi&lt;/p&gt;&lt;p&gt;&lt;sup&gt;9&lt;/sup&gt;Centre for Global Health Research, Kenya Medical Research Institute, Kisumu, Kenya&lt;/p&gt;&lt;p&gt;&lt;sup&gt;10&lt;/sup&gt;Population and Health Impact Surveillance Group, KEMRI-Wellcome Trust Research Programme, Nairobi, Kenya&lt;/p&gt;&lt;p&gt;&lt;sup&gt;11&lt;/sup&gt;Wits RHI, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa&lt;/p&gt;&lt;p&gt;&lt;sup&gt;12&lt;/sup&gt;Moi Teaching and Referral Hospital, Eldoret, Kenya&lt;/p&gt;&lt;p&gt;&lt;sup&gt;13&lt;/sup&gt;Muhimbili Orthopaedic Institute, Dar es Salaam, Tanzania&lt;/p&gt;&lt;p&gt;&lt;sup&gt;14&lt;/sup&gt;Centre de Recherche en Santé de Nouna, Nouna, Burkina Faso&lt;/p&gt;&lt;p&gt;&lt;sup&gt;15&lt;/sup&gt;Hararghe Health Research, Haramaya University, Harar, Ethiopia&lt;/p&gt;&lt;p&gt;&lt;sup&gt;16&lt;/sup&gt;Centre for Maternal and Infant Res","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 8","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13500739/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148807928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Congenital Heart Disease Associated With Genetic Syndromes and Extracardiac Anomalies: A Six-Year Epidemiological Study in a Brazilian Referral Center","authors":"Letícia Cordeiro Rodriguez,&nbsp;Nicole Lerner,&nbsp;Maria de Fátima Monteiro Pereira Leite,&nbsp;Carla Verona Barreto Farias,&nbsp;Michail Barmpas,&nbsp;Dulce Helena Gonçalves Orofino,&nbsp;Juan Clinton Llerena Junior","doi":"10.1002/bdr2.70111","DOIUrl":"10.1002/bdr2.70111","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital heart diseases (CHDs) are structural and/or functional abnormalities of the heart that arise during embryonic cardiovascular development. They are the most common type of congenital defect and represent a major cause of neonatal morbidity and mortality, particularly when associated with genetic syndromes or other congenital anomalies. This study aims to analyze the clinical and epidemiological profile of CHD in newborns at a high fetal-risk maternity hospital in Rio de Janeiro from 2018 to 2023, describing the types of CHD, associated anomalies and genetic syndromes, maternal risk factors, and neonatal outcomes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This is a descriptive, retrospective study using the database of the Latin American Collaborative Study of Congenital Malformations (ECLAMC) at Instituto Fernandes Figueira/Fiocruz (IFF/Fiocruz). Newborns with a confirmed diagnosis of CHD, born at IFF between January 2018 and December 2023 and properly registered in the ECLAMC program were included.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Among 5647 births, 225 newborns with CHD were identified and analyzed, corresponding to a prevalence of approximately 4%. The most frequent CHD was ventricular septal defect (VSD), present in 68 cases, followed by atrioventricular septal defect (AVSD) in 41 cases and coarctation of the aorta (CoA) in 27. Complex cardiopathies predominated, representing 60% of cases. Most diagnoses were established prenatally (93.3%), with a fetal echocardiogram accuracy of 78.5%. Associated congenital anomalies were identified in 64% of cases, predominantly affecting the gastrointestinal tract, central nervous system, and genitourinary tract. Genetic syndromes were confirmed in 95 patients (42.2%), with a predominance of Down syndrome (35), followed by Edwards syndrome (29) and Patau syndrome (10). The rate of hospital discharge alive was 53.3% in patients with isolated CHD, compared to 29% in those with associated syndromes or anomalies.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>IFF presents a highly complex patient profile, with a high prevalence of CHD associated with genetic syndromes and extracardiac anomalies, reflecting its role as a tertiary referral center. The presence of associated anomalies and syndromes negatively impacted neonatal prognosis, reinforcing the importance of prenatal diagnosis and specialized multidisciplinary care in the management of these conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 8","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13500736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148807925","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A Tiered Genetic Diagnostic Approach in Newborns With Major Congenital Anomalies: Experience From a Tertiary NICU","authors":"Hatice Mutlu,&nbsp;Ece Eker,&nbsp;Yasemin Ezgi Köstekci,&nbsp;Ferhan Demirtaş,&nbsp;Doğan Kaymaz,&nbsp;Muhammed Doğukan Kalenderoğlu,&nbsp;Arzu Ay,&nbsp;Şule Altıner,&nbsp;Emel Okulu,&nbsp;Ömer Erdeve,&nbsp;Begüm Atasay,&nbsp;Saadet Arsan","doi":"10.1002/bdr2.70108","DOIUrl":"https://doi.org/10.1002/bdr2.70108","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Major congenital anomalies (MCAs) are a leading cause of neonatal morbidity and mortality and frequently reflect underlying chromosomal, copy number, or single-gene defects. In neonates with multiple MCAs, early molecular diagnosis is critical but remains challenging due to phenotypic heterogeneity, overlapping developmental pathways, and limitations in selecting the most appropriate genetic test.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This prospective study included 146 neonates with congenital anomalies who were referred for genetic consultation from a tertiary neonatal intensive care unit between April 2022 and May 2025. A major congenital anomaly was defined as a structural abnormality present at birth with significant medical, functional, or cosmetic consequences, while multiple congenital anomalies were defined as two or more major anomalies involving different organ systems. Clinical features were systematically annotated using Human Phenotype Ontology terms and classified according to organ system and embryological origin. A tiered diagnostic strategy was applied, including conventional cytogenetic analysis, chromosomal microarray analysis (CMA), whole-exome sequencing (WES), and rapid-WES (rWES) in selected critically ill neonates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Cardiovascular anomalies were the most frequent (45.9%), and 88 of 146 neonates (60.3%) had two or more MCAs. Cytogenetic testing identified numerical chromosomal abnormalities in eight neonates. CMA detected pathogenic or likely pathogenic copy number variants in 6 of 65 tested cases (9.1%). In CMA-negative patients, WES achieved a diagnostic yield of 41.4%, identifying variants in genes involved in multisystem developmental pathways. Rapid WES established definitive molecular diagnoses in two of three critically ill neonates within 72 h, directly influencing clinical management. Embryological analysis revealed recurrent co-occurrence patterns, particularly cardiovascular–craniofacial and cardiovascular–genitourinary associations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>A structured, tiered genomic approach enhances diagnostic yield in neonates with congenital anomalies. Integration of cytogenetics, CMA, and CNV-aware exome sequencing provides a pragmatic and clinically actionable framework for molecular diagnosis in NICU settings and supports developmentally informed interpretation of complex phenotypes.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 8","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148784674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Maternal Hypertension, Diabetes, and Preterm Birth Risk Among Infants With Trisomy 21 in Texas, 1999–2018","authors":"Fatima R. Sheriff,&nbsp;Renata H. Benjamin,&nbsp;Qian Xiao,&nbsp;Jenil Patel,&nbsp;Charles Shumate,&nbsp;Alejandra Fernandez,&nbsp;A. J. Agopian","doi":"10.1002/bdr2.70107","DOIUrl":"https://doi.org/10.1002/bdr2.70107","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>The preterm birth rate among infants with trisomy 21 is more than twice the rate among the general population. Maternal hypertension and diabetes are established risk factors for preterm birth in the general population; however, their impact on pregnancies of infants with trisomy 21 is unknown. This study aimed to evaluate the association between maternal hypertensive disorders/diabetes and preterm birth among infants with trisomy 21.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We utilized data from the Texas Birth Defects Registry for deliveries between 1999 and 2018 (<i>n</i> = 9355). We conducted Poisson regression to estimate crude and adjusted risk ratios for preterm birth associated with any maternal hypertension and any diabetes, and their subtypes (pregestational, gestational). We also evaluated the risk associated with exposure to both (co-occurring) conditions compared to neither. Stratified analyses were conducted by racial/ethnic subgroups, preterm subtypes (&lt; 32 weeks and 32–36 weeks), and presence/absence of congenital heart defects as part of secondary analyses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We found that maternal hypertension and diabetes were associated with 50% and 21% higher risk for preterm birth, respectively, while the presence of both conditions versus neither was associated with a 71% higher risk. The association with hypertension was much stronger for delivery at &lt; 32 weeks aRR 2.60 (95% CI 1.83, 3.70) than for delivery at 32–36 weeks aRR 1.46 (95% CI 1.28, 1.66).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings shed light on the role of maternal hypertension and diabetes in preterm birth risk among infants with trisomy 21, particularly when both conditions co-occur and for extremely to very preterm birth.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 8","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.70107","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148784027","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Introduction to the 2026 National Birth Defects Prevention Network Virtual Issue","authors":"Sarah C. Fisher,&nbsp;Wendy N. Nembhard","doi":"10.1002/bdr2.70027","DOIUrl":"https://doi.org/10.1002/bdr2.70027","url":null,"abstract":"&lt;p&gt;The year 2025 was turbulent for US public health, medicine, and research. The disruption of long-standing research and programs at universities, health departments, the Centers for Disease Control and Prevention, National Institutes of Health, and other federal agencies impacted society's most vulnerable, including children with birth defects and their families; the long-term consequences remain unclear. The future of these programs and researchers is uncertain, and data sources once considered accurate and reliable are now overshadowed by doubt. Birth defects surveillance systems and researchers have persevered, and the National Birth Defects Prevention Network (NBDPN) virtual issue remains an independent and trusted source for accurate and reliable population-based birth defects information.&lt;/p&gt;&lt;p&gt;In this current virtual issue, we feature several original articles. Four articles are birth defects surveillance methods papers, focusing on the use of diverse data sources and advances in electronic medical recordkeeping to collect birth defects data. Two of these papers report on the use of electronic case reporting in ascertaining birth defects cases (Allred et al. &lt;span&gt;2026&lt;/span&gt; and Koops et al. &lt;span&gt;2026&lt;/span&gt;), another reports on the utility of administrative codes for accurately identifying gastroschisis cases (Contreras et al. &lt;span&gt;2026&lt;/span&gt;), and the fourth reports on data sources that can be used to identify children with critical congenital heart defects (Atkinson et al. &lt;span&gt;2026&lt;/span&gt;). Another three articles showcase examples of scholarly work either made possible or inspired by birth defects surveillance data. Boos et al. (&lt;span&gt;2026&lt;/span&gt;) report findings from a study focused on &lt;i&gt;chlamydia&lt;/i&gt; treatment adequacy during pregnancy and its association with risk of birth defects in New York. Ali et al. (&lt;span&gt;2026&lt;/span&gt;) describe racial and ethnic differences in healthcare utilization among adolescents and adults with congenital heart defects in three states, and Vidavalur and Gautham (&lt;span&gt;2026&lt;/span&gt;) report trends in US infant mortality among children with congenital diaphragmatic hernia.&lt;/p&gt;&lt;p&gt;The articles in this virtual issue of &lt;i&gt;Birth Defects Research&lt;/i&gt; were selected from submissions responding to a call for manuscripts distributed to US state birth defect surveillance programs, members of the NBDPN, and advertised on the NBDPN website (http://www.nbdpn.org). Each submission underwent both editorial and formal blinded peer review, managed via the ScholarOne online system provided by Wiley Publishers for editors of &lt;i&gt;Birth Defects Research&lt;/i&gt;. This publication's success is due to the many individuals who ensured its quality. We extend heartfelt thanks to all contributing authors and peer reviewers, as well as the &lt;i&gt;Birth Defects Research&lt;/i&gt; editors and staff for their essential support throughout the submission and publication process. We also thank the staff of the NBDPN and of the Division of Birth Defect","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 8","pages":""},"PeriodicalIF":2.0,"publicationDate":"2026-08-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.70027","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148784026","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}