Birth Defects Research最新文献

{"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}

{"title":"The Influence of Maternal Melatonin on Embryo Implantation: A Crucial Factor in Reproductive Outcomes","authors":"Tannaz Novinbahador,&nbsp;Sina Abroon,&nbsp;Kimia Motlagh,&nbsp;Mohammad Nouri","doi":"10.1002/bdr2.70021","DOIUrl":"10.1002/bdr2.70021","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>This review aimed to investigate the effect of melatonin on the maternal side of the implantation process. Additionally, reproductive factors involved in changing melatonin levels and vice versa, will also be discussed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The authors collected the relevant articles published until 2024 and these are carefully selected from PubMed, Embase, Google scholar databases on the basis of related keywords.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Melatonin could improve the endometrial receptivity and has been shown to act directly on several reproductive events, including folliculogenesis, oocyte maturation, and corpus luteum (CL) formation. Melatonin administration reduces oxidative stress and directly acts on its membrane receptors and melatonin thyroid hormone receptors (MT1 and MT2). Also, melatonin displays effects on the earliest phases of pregnancy and during the whole gestational period. Many studies have reported the anticancer effect of melatonin against a myriad of women cancer types. A new report by WHO revealed that around 17.5% of the adult population experience infertility, showing the urgent need to increase access to affordable, high-quality fertility care for those in need.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This study shows that melatonin is present in the ovary and the placenta and has positive effects in the maternal reproductive system.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141248","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":"Timing of Secondary Palate Fusion in Human Embryos and Fetuses","authors":"Puck Pauline Mulder,&nbsp;Jess Johanna Peters,&nbsp;Yousif Dawood,&nbsp;Karl Jacobs,&nbsp;Sophie Caroline Visser,&nbsp;Jaco Hagoort,&nbsp;Jermo Hanemaaijer-van der Veer,&nbsp;Robert Hemke,&nbsp;Eva Pajkrt,&nbsp;Roelof-Jan Oostra,&nbsp;Corstiaan Cornelis Breugem,&nbsp;Bernadette Simone de Bakker","doi":"10.1002/bdr2.70029","DOIUrl":"10.1002/bdr2.70029","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>The human face develops through a complex sequence of growth and fusion events involving multiple pharyngeal arch derivatives. Disruptions in these processes can result in congenital anomalies such as cleft lip and/or palate (CL/P), which occur in approximately 1.6 per 1000 live births in Europe. Patients with CL/P often experience difficulties regarding feeding and speech, and studies suggest an increased risk of psychosocial difficulties. Understanding the morphological development and timing of secondary palate formation is essential for clarifying the pathogenesis of CL/P and identifying critical developmental periods during pregnancy. In this study, we aimed to evaluate the timing and morphological changes of the secondary palate in human embryos between Carnegie Stages 17–23 and fetuses aged 9–11 weeks post-conception (PC).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Histological sections and micro-CT scans of 26 human specimens, evenly distributed across these developmental stages, were analyzed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results showed that palatal shelves first appear at CS18 and continue vertical outgrowth until CS22. At CS22, the shelves start to reorient horizontally and further extend medially. Shelf contact is observed at CS23, marking the onset of fusion, which is completed during or after 9 weeks PC.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These findings refine the timeline of human secondary palate development. Importantly, identifying this critical developmental window suggests that current guidelines for administering medications during early pregnancy should be reevaluated, as drug exposure during this sensitive period may increase the risk of palatal malformations.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12883575/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141221","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":"Children With Biliary Atresia Have Substantial Morbidity in Early Childhood and a High Risk of Liver Transplantation","authors":"Mads Damkjær,&nbsp;Joachim Tan,&nbsp;Maria Loane,&nbsp;Joanne Given,&nbsp;Elisa Ballardini,&nbsp;Clara Cavero-Carbonell,&nbsp;Mika Gissler,&nbsp;Sue Jordan,&nbsp;Anna Pierini,&nbsp;Anke Rissmann,&nbsp;David Tucker,&nbsp;Ester Garne,&nbsp;Joan K. Morris","doi":"10.1002/bdr2.70024","DOIUrl":"10.1002/bdr2.70024","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Biliary atresia is a rare but severe congenital anomaly associated with substantial morbidity and mortality in early childhood. Population-based estimates of survival, surgical management, and liver transplantation across Europe remain limited. This study aimed to describe mortality and morbidity among children born with biliary atresia using multinational population-based data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We investigated children diagnosed with biliary atresia across nine registries from five countries within the European surveillance of congenital anomalies network (EUROCAT), covering births from 1995 to 2014. The data were linked to hospital databases and adjusted for regional differences and follow-up length.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Our cohort included 171 children, with an infant mortality rate of 12.3% (95% CI: 7.8–17.6) and a mortality rate before age five of 18.5% (95% CI: 10.7–27.7). Among these children, 151 had undergone surgery, including 133 who received the Kasai procedure by the age of 1 year at a median age of 57 days (95% CI: 51–62 days). By age five, 37% (adjusted percentage, 95% CI: 30–44) had undergone liver transplantation, with the median age at transplantation being 318 days (95% CI: 244–391 days). Median age at death in the first year was over 6 months and was not immediately after surgery.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The high mortality and the substantial need for liver transplantation within the first year of life underline the severity of biliary atresia. This highlights the urgent need for further research into pregnancy exposures that may contribute to this rare but severe congenital anomaly to develop primary prevention strategies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.70024","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146141265","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":"Temporal Trends in Fetal Congenital Heart Disease: Is There a Potential Link With Air Quality?","authors":"Natalie L. Ewing,&nbsp;Mary T. Donofrio,&nbsp;Gary M. Shaw,&nbsp;Jennifer H. Klein","doi":"10.1002/bdr2.70026","DOIUrl":"10.1002/bdr2.70026","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital heart disease (CHD) is the most common birth defect. Environmental risk factors, including air pollution, are increasingly identified as contributors to the risk profile of CHD. We sought to investigate the temporal association between frequency and severity of fetal CHD with air quality in the D.C. metropolitan region.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We queried all fetal diagnoses of CHD at a tertiary care center over a 5-year period, inclusive of a wildfire smoke event. We categorized each case as critical or non-critical CHD and assigned the case to the estimated month of delivery. We used descriptive statistics to show temporal trends in fetal CHD and the relationship with publicly available air quality data.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Of the 685 CHD cases, approximately 60% were considered critical CHD. The highest number of cases occurred in March 2024 (coincident with a periconception period in June 2023 during peak wildfire smoke exposure). An additional peak in CHD cases in February 2023 also coincided with a worse air quality peak during the cardiac embryonic period. However, there was no change in the percentage of critical CHD during these peaks.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Our work highlights the possibility of environmental pollution, specifically wildfire smoke exposure, as a risk factor for fetal CHD.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146123422","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":"Association Between Fetal Congenital Heart Disease and Assisted Reproductive Technologies in the First Trimester of Pregnancy: A Retrospective Study","authors":"Ilaria Giuditta Ramezzana,&nbsp;Marco Reschini,&nbsp;Simona Boito,&nbsp;Lucia Mauri,&nbsp;Anastasia Giri,&nbsp;Edgardo Somigliana,&nbsp;Nicola Persico","doi":"10.1002/bdr2.70030","DOIUrl":"10.1002/bdr2.70030","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>To determine whether there is a higher rate of major fetal congenital heart diseases (CHDs) at first-trimester scan in pregnancies conceived by assisted reproductive technology (ART).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>A retrospective study was conducted from 2014 to 2022. It included 20,009 singleton pregnancies undergoing ultrasound between 11 and 15 weeks for first-trimester aneuploidy screening or referral for suspected fetal abnormality. Fetal heart assessment was performed through sequential analysis. In cases of CHDs, extracardiac malformations, or other risk factors for major aneuploidies, fetal karyotype evaluation was conducted. CHDs were categorized as major or minor.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A CHD was diagnosed in 133 (0.7%) of 18,532 natural pregnancies and 14 (0.9%) of 1477 ART pregnancies. The prevalence of major CHDs in natural pregnancies was 0.5%, with no significant difference compared to ART pregnancies (0.7%; <i>p</i> = 0.47). Overall, 48 CHD cases (43.2%) were associated with extracardiac abnormalities, with no differences between natural and ART pregnancies (<i>p</i> = 0.38). The frequency of abnormal karyotype and isolated CHDs (normal karyotype and no extracardiac abnormalities) also did not differ.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The rate of major CHDs detectable at the end of the first trimester does not differ between ART and natural pregnancies.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146112450","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":"The Effect of Some Complementary Medicine Active Components on Rat Embryonic Heart Rate In Vitro","authors":"Helen E. Ritchie,&nbsp;Andrea Xia,&nbsp;Jaimie W. Polson","doi":"10.1002/bdr2.70016","DOIUrl":"10.1002/bdr2.70016","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Most complementary and alternative medicines (CAMs) lack clinical safety regarding use in pregnancy, yet they are freely available and do not require a prescription. While all new conventional medicines are assessed for safety during pregnancy, CAMs are exempt. In vitro testing potentially provides a rapid screening method to support risk assessment. Whole rat embryo culture can be used to identify the impact of chemicals on the embryonic heart rate. There is clear evidence that slowing of the embryonic heart rate (bradycardia) can cause spontaneous abortions and fetal malformations. The aim of this study was to examine the effect of four commonly used CAMs on the embryonic heart rate in vitro. A risk assessment was then generated from the results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Gestation day 13 rat embryos were exposed to the active ingredient of four herbal medicines: allicin (garlic), epigallocatechin-gallate (green tea), ginsenoside Rg3 (found in ginseng), and berberine (goldenseal). All ingredients caused embryonic bradycardia.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results and Conclusion</h3>\u0000 \u0000 <p>The margin of safety was acceptable for EGCG and ginsenoside Rg3 but could not be calculated for allicin due to lack of pharmacokinetic data. The margin of safety for berberine is also likely to be acceptable under most conditions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"118 2","pages":""},"PeriodicalIF":1.6,"publicationDate":"2026-02-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146111684","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}