Birth Defects Research最新文献

{"title":"Machine Learning-Based Risk Prediction Models for Pregnancy-Related Syndromes","authors":"Yanqi Wu","doi":"10.1002/bdr2.70038","DOIUrl":"10.1002/bdr2.70038","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Pregnancy-related syndromes, such as hypertensive disorders, gestational diabetes mellitus, and preterm birth, pose a significant global health burden, affecting maternal and fetal outcomes. Traditional screening methods, reliant on isolated biomarkers or linear models, often fail to address the complex pathophysiology of these conditions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Method</h3>\u0000 \u0000 <p>This review synthesizes current literature on machine learning applications in obstetric care, analyzing multimodal data integration from electronic health records, biochemical markers, multi-omics, and imaging. It outlines model development workflows, including preprocessing for class imbalance (e.g., SMOTE) and interpretability tools (e.g., SHAP), while addressing ethical and technical challenges.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Ensemble methods (e.g., Random Forest, XGBoost) and deep learning (e.g., CNNs) outperform logistic regression, achieving AUC values &gt; 0.90. Key advancements include federated learning for privacy and bias mitigation strategies to enhance generalizability across populations.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Machine learning-based models enable predictive, preventive, and personalized obstetrics, facilitating early interventions and improved perinatal outcomes, though external validation and regulatory frameworks are essential for clinical adoption.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-03-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147430537","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":"Prevalence and Risk Factors of Postpartum Depression in Southeastern Iranian Women","authors":"Tania Dehesh,&nbsp;Samira Jafari,&nbsp;Paria Dehesh","doi":"10.1002/bdr2.70033","DOIUrl":"10.1002/bdr2.70033","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Postpartum depression (PPD) significantly impacts maternal mental health and child well-being, necessitating a clear understanding of its prevalence and risk factors to inform effective interventions in Iran.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This cross-sectional study, conducted in Kerman, eastern Iran, from April to December 2023, recruited 876 women from multiple healthcare centers. Data were collected using the validated Persian Edinburgh Postnatal Depression Scale (EPDS, score &gt; 12) with DSM-5 clinical confirmation, alongside a questionnaire assessing demographic characteristics, socioeconomic status, marital relationships, and support systems. Logistic regression analyses determined the point prevalence of PPD and identified significant risk and protective factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The point prevalence of PPD was 29.1% (255/876, 95% CI: 26.2–32.2). Independent predictors of higher PPD odds included delivery outside a healthcare facility (AOR = 1.60, 95% CI: 1.25–2.21, <i>p</i> = 0.015), maternal history of depression (AOR = 2.20, 95% CI: 1.60–3.00, <i>p</i> &lt; 0.001), infant abnormalities (AOR = 1.60, 95% CI: 1.10–2.40, <i>p</i> = 0.014), poor breastfeeding experience (AOR = 2.50, 95% CI: 1.30–4.70, <i>p</i> = 0.006), excessive infant crying (AOR = 1.70, 95% CI: 1.20–2.50, <i>p</i> = 0.003), husband's chronic illness (AOR = 1.32, 95% CI: 1.21–1.69, <i>p</i> = 0.043), and husband's history of depression (AOR = 1.43, 95% CI: 1.17–1.72, <i>p</i> = 0.045). Protective factors included husband's involvement in childcare (AOR = 0.61, 95% CI: 0.42–0.90, <i>p</i> = 0.017), adequate emotional support (AOR = 0.65, 95% CI: 0.45–0.95, <i>p</i> = 0.025), and satisfaction with the baby's gender (AOR = 0.71, 95% CI: 0.50–0.95, <i>p</i> = 0.023).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The 29.1% point prevalence of PPD underscores the urgent need for enhanced screening, community-based support, and targeted interventions addressing modifiable factors like breastfeeding difficulties and partner support to improve maternal and child health outcomes in Iran.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147353856","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":"No Evidence of Impact of Genetic Sex on Hyperthermia-Induced Neural Tube Defects in Chicken Embryos","authors":"Yiting Wang,&nbsp;Aimee K. Ryan,&nbsp;Anna K. Naumova","doi":"10.1002/bdr2.70037","DOIUrl":"10.1002/bdr2.70037","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>In mammals, cranial neural tube defects (NTDs) are more likely to occur in females. It has been proposed that the sex bias in NTDs was due to the presence of the inactive X chromosome in the somatic cells of female embryos and that the inactive X acted as a heterochromatic sink, competing for silencing factors with the rest of the genome. Such competition increased the likelihood of abnormal gene regulation. To test this hypothesis, we used an animal model that lacks dosage compensation, the chicken <i>Gallus gallus</i>. If the heterochromatic sink hypothesis was correct, no sex bias will be found in chicken embryos with cranial NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We used in ovo heat treatment to induce NTDs in chicken embryos and PCR genotyping to determine embryos' genetic sex. Embryo phenotypes were examined using a dissecting microscope. Embryos were staged according to Hamburger and Hamilton criteria and scored for NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We observed a statistically significant increase in NTDs following heat treatment (38.1% in the treatment group vs. 5.9% in the control group), but no sex bias. Next, we asked if heat treatment led to a developmental delay and found a significant association between the numbers of somite pairs and heat treatment and a reduced number of somites in the chicken embryos with cranial NTDs.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>In ovo hyperthermia during the developmental window when the neural tube is formed dramatically increases the rate of NTDs and delays the development of chicken embryos. However, there is no sex bias with respect to NTD risk.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963691/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147364134","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":"Recurrent Constellations of Embryonic Malformations (RCEM): Teratogenicity Linked to Transient Hypoxia and Hormone Pregnancy Tests Agrees With RCEM and Suggest a Reactive Oxygen Species Pathogenesis","authors":"Aaron P. Adam,&nbsp;Helen E. Ritchie,&nbsp;Margaret P. Adam,&nbsp;Bengt R. Danielsson","doi":"10.1002/bdr2.70036","DOIUrl":"10.1002/bdr2.70036","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>No consistent genetic etiology has been found for a group of six different conditions in humans with multiple malformations called “recurrent constellations of embryonic malformations” (RCEM). Recent studies indicate hypoxia/reoxygenation and generation Reactive Oxygen Species (ROS) as an underlying mechanism for RCEM with the specific manifestations related to the timing, severity and duration of the ROS exposure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Medical literature was evaluated in relation to a hypoxia/ROS related mechanism for RCEM. Special attention was paid to investigate if the reported spectrum of multiple human malformations for Hormone Pregnancy Tests (HPTs), which have been associated with embryonic hypoxia due abnormal uterine contractions in early pregnancy, agrees with the RCEM spectrum.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The pattern of human multiple and single malformations associated with HPTs in 44 case reports with multiple defects, 86% (38/44) were consistent with RCEM spectrum, the most common was VACTERL. There was also a high consistency with regards to increases in single HPT malformations within the RCEM spectrum in a large case report study (&gt; 225 cases) and in more than 25 human epidemiological studies evaluating HPT teratogenicity. The RCEM spectrum is also consistent with reported malformations when the embryo has been exposed to periods of transient embryonic hypoxia/ROS in animal studies and when exposed to drugs associated with embryonic hypoxia/ROS (e.g., cocaine) and in some genetic diseases with malformations (e.g., NAD+ deficiency) when ROS overwhelms the antioxidant defense.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This review shows that HPTs are associated with human teratogenicity and ROS to be the proximate teratogen underlying RCEM.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12961259/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147353817","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":"Novel Homozygous DLX5 and WNT10B Variants Expand the Genetic and Phenotypic Spectrum of Autosomal Recessive Split-Hand/Foot Malformations (SHFM1D and SHFM6)","authors":"Heba A. Hassan,&nbsp;Asmaa M. Esmail,&nbsp;Mervat Elbelbesy,&nbsp;Nargues M. Hassanein,&nbsp;Mona S. Aglan,&nbsp;Mona L. Essawi","doi":"10.1002/bdr2.70031","DOIUrl":"10.1002/bdr2.70031","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Split-hand/foot malformations (SHFM) have both dominant and recessive inheritance patterns, but the autosomal recessive forms (SHFM1D and SHFM6) are much rarer and often present with more severe and asymmetrical limb defects compared to the dominant forms. This study aimed to investigate the genetic basis of SHFM in patients presenting with limb anomalies and associated features, contributing to the understanding of autosomal recessive SHFM subtypes (SHFM1D and SHFM6).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Clinical and radiological assessments were performed on the patients, followed by exome sequencing and segregation analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Two patients exhibited median clefts in hands/feet, aplasia/hypoplasia of phalanges. Patient 1 also presented with genital anomalies (hypospadias), hearing loss, and atrial defect detected in one patient. Exome sequencing identified two novel homozygous variants: A nonsense variant (p.Glu33*) in DLX5 (SHFM1D) in Patient 1 and a missense variant (p.Leu87Pro) in WNT10B (SHFM6) in Patient 2. Parental sequencing confirmed heterozygous carrier status. The DLX5 variant truncates the protein upstream of the DNA-binding domain, while the WNT10B variant disrupts a conserved palmitoylation site, impairing WNT signaling.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study expands both the genetic and phenotypic spectra of autosomal recessive SHFM. We report the second documented case of SHFM1D worldwide. It is the first case to link the recessive SHFM1D with hypospadias, thereby expanding its clinical spectrum. Our findings also distinguish the distinct pathogenic mechanisms of <i>DLX5</i> and <i>WNT10B</i>-related malformations. Further research into the DLX5/WNT10B pathways may provide insights into human development and differentiation in the context of SHFM and associated anomalies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316166","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 Analgesic Exposure and Fetal Ductal Constriction: A Prospective Cohort Study in Late Pregnancy","authors":"Isaura Elaine Gonçalves Moreira Rocha,&nbsp;Andresa Carvalho Nobre,&nbsp;Beatriz Gonçalves Rocha,&nbsp;Paulo Henrique Benevides Siqueira,&nbsp;Estelita Lima Cândido,&nbsp;Simone Cristina Soares Brandão","doi":"10.1002/bdr2.70039","DOIUrl":"10.1002/bdr2.70039","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Objective&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;To evaluate the association between maternal analgesic exposure in late pregnancy and fetal ductal and pulmonary hemodynamics using serial echocardiographic assessment, and to explore potential differences between metamizole and acetaminophen.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Methods&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In this prospective cohort study, 67 third-trimester pregnancies were evaluated: 47 exposed to analgesics (27 metamizole and 20 acetaminophen) and 20 unexposed controls. Two standardized fetal echocardiograms were performed: during exposure (T1) and after a 5–7 day drug-free interval (T2). Ductal Doppler parameters, including systolic velocity, diastolic velocity, and pulsatility index (PI), were used to define ductal constriction based on established criteria (PI &lt; 1.9 and/or increased velocities). Right-heart and pulmonary hemodynamic parameters, including mean pulmonary artery pressure (MPAP) and acceleration time/ejection time ratio (AT/ET), were also assessed.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Results&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;In the primary pooled analysis, ductal constriction occurred in 38.3% (18/47) of exposed fetuses and in 0% (0/20) of controls (&lt;i&gt;p&lt;/i&gt; = 0.00065). When stratified by exposure, constriction was observed in 52% (14/27) of metamizole-exposed fetuses and in 20% (4/20) of acetaminophen-exposed fetuses. In multivariable analysis, metamizole use (OR 2.05; 95% CI 1.28–3.28), exposure within 48 h (OR 1.96; 95% CI 1.12–3.44), and dose &gt; 1 g (OR 2.64; 95% CI 1.31–5.32) were independently associated with ductal constriction. Within the metamizole group, higher doses were associated with a greater proportion of constriction, although subgroup size limited statistical precision. After metamizole withdrawal, PI increased significantly (1.86 ± 0.43 to 2.28 ± 0.41; &lt;i&gt;p&lt;/i&gt; &lt; 0.001), accompanied by reductions in systolic and diastolic velocities (&lt;i&gt;p&lt;/i&gt; &lt; 0.05). In the acetaminophen group, mild and reversible constriction was observed, with modest PI improvement at T2 (2.20 ± 0.44 to 2.40 ± 0.29; &lt;i&gt;p&lt;/i&gt; = 0.040) and no major velocity changes. Neither exposure significantly altered MPAP or AT/ET.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusions&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Maternal exposure to analgesics in late pregnancy was associated with fetal ductal constriction compared with unexposed controls. The association was stronger for metamizole and consistent with a dose-related pattern. Acetaminophen was associated with mild, reversible ductal involvement in a subset of fetuses. Reversibility after drug withdrawal supports a functional, prostagland","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 3","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12948653/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147316140","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":"Sibling Recurrence Risk of Non-Chromosomal Birth Defects: A Population-Based Study in Florida, 2000–2019","authors":"Rachel E. Rutkowski,&nbsp;Jean Paul Tanner,&nbsp;Amanda L. Elmore,&nbsp;Russell S. Kirby,&nbsp;A. J. Agopian,&nbsp;Jason L. Salemi","doi":"10.1002/bdr2.70034","DOIUrl":"10.1002/bdr2.70034","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To estimate sibling recurrence risk for non-chromosomal birth defects using statewide, population-based data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed data from the Florida Birth Defects Registry to identify singleton siblings born 2000–2019 with any of 43 non-chromosomal birth defects. Multivariable logistic regression was used to estimate adjusted odds ratios (ORs) and 95% confidence intervals (CIs) for the association between birth defect occurrence in the older sibling (exposure) and in the younger sibling (outcome). Two analytic scenarios were considered: (1) any birth defect in the younger sibling, and (2) concordant recurrence, defined as a defect within the same body region. Models adjusted for maternal sociodemographic and perinatal characteristics from linked birth certificate and hospital discharge data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The study population included 1,372,831 sibling pairs, of which 29,611 (2.2%) had an older sibling with a birth defect. Among sibling pairs in which the older sibling was affected, 4.8% of younger siblings also had a birth defect. Younger siblings had over twice the odds of having any birth defect if their older sibling was affected compared to those with an unaffected older sibling (adjusted ROR: 2.1, 95% CI: 2.0–2.2). Recurrence risk varied by body system, with the highest adjusted odds of concordant recurrence observed for orofacial defects (adjusted ROR: 18.7, 95% CI: 13.9–25.1).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Our findings provide contemporary, system-specific estimates of sibling recurrence that may inform family counseling, preconception care, and clinical decision-making.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146257352","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":"Reproductive and Neurobehavioral Effects of Combined Exposure to Dinotefuran and Piperonyl Butoxide in an F1 Generation of Mice","authors":"Toyohito Tanaka,&nbsp;Akiko Inomata","doi":"10.1002/bdr2.70035","DOIUrl":"10.1002/bdr2.70035","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Few published studies are reported for reproductive and neurobehavioral toxicity of combined exposure to neonicotinoid insecticides and synergists in mammals. This study aimed to evaluate the reproductive and neurobehavioral effects of combined dinotefuran (DIN) and piperonyl butoxide (PBO) in an F₁-generation toxicity study in mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>DIN and PBO were given in the diet to provide levels of 0% (control), PBO 0.03%, DIN 0.012% + PBO 0.03%, and DIN 0.024% + PBO 0.03% from 5 weeks of age of the F₀ generation to 11 weeks of age of the F₁ generation in mice. Selected reproductive and neurobehavioral parameters were measured in the F₁ generation.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>For exploratory behavior in the F₀ generation, the number of horizontal activities increased with a statistically significant dose-related response in adult males. For exploratory behavior in the F₁ generation, the total distance, movement time, average speed, and average time of movement increased with statistically significant dose-related responses in adult males. In the spontaneous behavior of males in the F₁ generation, the parallel lines during the control and treatment groups indicated significant distances in the total distance, average speed, and average time of movement.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The dose levels of DIN with PBO in the present study affected exploratory and spontaneous behavior at lower dose levels than those observed in previous studies with the single administration of DIN and PBO. Therefore, the dose level of PBO (0.03%, approximately 44–116 mg/kg body weight/day) is estimated to have a synergistic effect on DIN exposure.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146212174","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":"Estimating the Prevalence of Congenital Cytomegalovirus Infection due to Primary Maternal Infection in the United States: A Probabilistic Risk Assessment Model","authors":"Nicole G. Wiley,&nbsp;Chelsea S. Lutz,&nbsp;Michael M. Thomas,&nbsp;Ismael R. Ortega Sanchez,&nbsp;Tatiana M. Lanzieri","doi":"10.1002/bdr2.70025","DOIUrl":"10.1002/bdr2.70025","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Transplacental transmission of cytomegalovirus (CMV) after primary maternal infection during the first trimester of pregnancy is associated with the most severe sequelae from congenital CMV (cCMV) infection. We estimated the prevalence of cCMV infection due to primary maternal CMV infection in the United States.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We built a probabilistic risk assessment model inputting 2022 national natality data, national CMV seroprevalence estimates among females 15–49 years, and published vertical transmission rates to estimate cCMV infection prevalence and distribution by maternal age group, parity, and trimester of infection during pregnancy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The estimated prevalence of cCMV infection due to primary maternal infection was 3.4 (95% CI: 2.0–6.0) per 1000 live births, resulting in 12,310 infants with cCMV infection in 2022. cCMV prevalence was higher among infants born to females 15–19 and 20–29 years (4.7 and 4.2 per 1000, respectively) than those born to females 30–39 and 40–49 years (2.6 per 1000, both). cCMV prevalence was higher among infants of primipara than multipara females (4.0 vs. 3.0 per 1000). Most infants with cCMV infection were born to females 20–29 years, either primipara (29%) or multipara (27%), and females 30–39 years, multipara (24%). Approximately 3160 (26%) cCMV infections resulted from first-trimester maternal infection.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Assuming an overall cCMV prevalence of 4.4 per 1000 live births, 77% of cCMV infections in the United States may be attributable to primary maternal infections. Data on group-specific prevalence of cCMV infection following primary maternal infection will be useful to inform preventative strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146177807","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":"Mortality Through 2021 Among Persons Born With Spina Bifida in Metropolitan Atlanta, 1981–2018","authors":"Vijaya Kancherla,&nbsp;Victoria Konrad Markwalter,&nbsp;Janet Cragan,&nbsp;Elizabeth B. Gray,&nbsp;Catharine Riley,&nbsp;Jennita Reefhuis","doi":"10.1002/bdr2.70028","DOIUrl":"10.1002/bdr2.70028","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Information on prevalence, predictors, and causes of mortality is sparse among persons born with spina bifida (SB), especially adults over age 25 years.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Individuals with SB born in 1981–2018 were identified in surveillance data from the Metropolitan Atlanta Congenital Defects Program, an active population-based birth defects surveillance system, and linked with Georgia death certificates (1981–2021). Survival probability was assessed using Kaplan–Meier curves. Selected factors were examined using Cox proportional hazards regression, estimating crude (cHR) and adjusted hazards ratios (aHR) and 95% confidence intervals (CIs).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of 458 infants born with SB, 341 met eligibility criteria; 18% (<i>n</i> = 61) died. The overall 25-year and 35-year survival probabilities were 82% and 75%, respectively. Survival improved between 1981–1999 and 2000–2018 for individuals with isolated SB (<i>p</i> &lt; 0.05), but not for those with multiple defects (<i>p</i> = 0.41). Preterm birth (aHR = 2.28; 95% CI = 1.32, 3.95), having multiple major birth defects (aHR = 2.07; 95% CI = 1.04, 4.13), or upper-level spinal lesion (aHR = 3.86; 95% CI = 2.23, 6.69) was associated with increased mortality risk. SB was often listed as the cause of death, even among adults; respiratory and cardiovascular conditions and infections were other commonly listed causes for mortality after infancy.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion</h3>\u0000 \u0000 <p>Survival for individuals with isolated SB improved over time; further improvements might be achieved by targeting age-specific risk factors in clinical and public health settings.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12894535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146164189","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}