Birth Defects Research最新文献

{"title":"Expanding the Massachusetts Birth Defects Monitoring Program to include additional pregnancy outcomes: Programmatic efforts and impacts on case ascertainment, 2012–2020","authors":"Amy Fothergill,&nbsp;Rebecca F. Liberman,&nbsp;Eirini Nestoridi,&nbsp;Cara T. Mai,&nbsp;Lorraine F. Yeung,&nbsp;Cathleen Higgins,&nbsp;Mahsa M. Yazdy","doi":"10.1002/bdr2.2323","DOIUrl":"10.1002/bdr2.2323","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Birth defects affect 1 in 33 infants in the United States and are a leading cause of infant mortality. Birth defects surveillance is crucial for informing public health action. The Massachusetts Birth Defects Monitoring Program (MBDMP) began collecting other pregnancy losses (OPLs) in 2011, including miscarriages (&lt;20 weeks gestation) or elective terminations (any gestational age), in addition to live births and stillbirths (≥20 weeks gestation). We describe programmatic changes for adding OPLs and their impact on prevalence estimates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Using population-based, statewide, data from the MBDMP (2012–2020), we assessed prevalence per 10,000 live births and 95% confidence intervals (CIs) with and without OPLs overall and for specific birth defects by time period, maternal age, and race/ethnicity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Including OPLs required amending a state statute and promulgating regulations, new data sources, and additional data processing, cleaning, and verification. Overall prevalence with OPLs increased from 257.4 (95% CI: 253.5–261.4) to 333.9 (95% CI: 329.4–338.4) per 10,000; increases were observed in all time periods, age, and race/ethnicity groups. After including OPLs, the prevalence increased for neural tube defects [3.2 (2.7–3.6) to 8.3 (7.6–9.0)], and trisomies 13 [0.5 (0.3–0.7) to 4.1 (3.6–4.6)], 18 [1.5 (1.2–1.9) to 8.2 (7.5–8.9)], and 21 [12.3 (11.4–13.2) to 28.9 (27.6–30.2)]. Cardiovascular defects increased slightly, while prevalence of eye/ear, respiratory, and gastrointestinal defects remained similar.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Adding OPLs required substantial programmatic efforts and resulted in more complete case ascertainment, particularly for certain birth defects. More complete case ascertainment will allow for improved research, screening, and resource allocation.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140109161","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":"Construction and analysis of a joint diagnostic model of machine learning for cryptorchidism based on single-cell sequencing","authors":"Yuehua Chen,&nbsp;Xiaomeng Zhou,&nbsp;Linghua Ji,&nbsp;Jun Zhao,&nbsp;Hua Xian,&nbsp;Yunzhao Xu,&nbsp;Ziheng Wang,&nbsp;Wenliang Ge","doi":"10.1002/bdr2.2316","DOIUrl":"10.1002/bdr2.2316","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Cryptorchidism is a condition in which one or both of a baby's testicles do not fully descend into the bottom of the scrotum. Newborns with cryptorchidism are at increased risk of developing infertility later in life. The aim of this study was to develop a novel diagnostic model for cryptorchidism and to identify new biomarkers associated with cryptorchidism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The study data were obtained from RNA sequencing data of cryptorchid patients from Nantong University Hospital and the Gene Expression Omnibus (GEO) database. Differential expression analysis was used to obtain differentially expressed genes (DEGs) between the control and cryptorchid groups. These DEGs were analyzed for their functions by Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment using GSEA software. Random Forest algorithm was used to screen central genes based on these DEGs. Neuralnet software package was used to develop artificial neural network models. Based on clinical data, receiver operating characteristic (ROC) was used to validate the models. Single-cell sequencing analysis was used for the pathogenesis of cryptorchidism.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We obtained a total of 525 important DEGs related to cryptorchidism, which are mainly associated with biological functions such as supramolecular complexes and microtubule cytoskeleton. Random forest approach screening obtained eight hub genes. A neural network based on the hub genes showed a 100% success rate of the model. Finally, single-cell sequencing analysis validated the hub genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>We developed a novel diagnostic model for cryptorchidism using artificial neural networks and validated its utility as an effective diagnostic tool.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140064825","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":"Human split hand/foot variants are not as functional as wildtype human PRDM1 in the rescue of craniofacial defects","authors":"Brittany T. Truong,&nbsp;Lomeli C. Shull,&nbsp;Bryan J. Zepeda,&nbsp;Ezra Lencer,&nbsp;Kristin B. Artinger","doi":"10.1002/bdr2.2327","DOIUrl":"10.1002/bdr2.2327","url":null,"abstract":"&lt;div&gt;\u0000 \u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Background&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;Split hand/foot malformation (SHFM) is a congenital limb disorder presenting with limb anomalies, such as missing, hypoplastic, or fused digits, and often craniofacial defects, including a cleft lip/palate, microdontia, micrognathia, or maxillary hypoplasia. We previously identified three novel variants in the transcription factor, &lt;i&gt;PRDM1&lt;/i&gt;, that are associated with SHFM phenotypes. One individual also presented with a high arch palate. Studies in vertebrates indicate that PRDM1 is important for development of the skull; however, prior to our study, human variants in &lt;i&gt;PRDM1&lt;/i&gt; had not been associated with craniofacial anomalies.&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;Using transient mRNA overexpression assays in &lt;i&gt;prdm1a&lt;/i&gt;&lt;sup&gt;&lt;i&gt;−/−&lt;/i&gt;&lt;/sup&gt; mutant zebrafish, we tested whether the &lt;i&gt;PRDM1&lt;/i&gt; SHFM variants were functional and could lead to a rescue of the craniofacial defects observed in &lt;i&gt;prdm1a&lt;/i&gt;&lt;sup&gt;&lt;i&gt;−/−&lt;/i&gt;&lt;/sup&gt; mutants. We also mined previously published CUT&amp;RUN and RNA-seq datasets that sorted EGFP-positive cells from a &lt;i&gt;Tg&lt;/i&gt;(&lt;i&gt;Mmu&lt;/i&gt;:&lt;i&gt;Prx1-EGFP&lt;/i&gt;) transgenic line that labels the pectoral fin, pharyngeal arches, and dorsal part of the head to examine Prdm1a binding and the effect of Prdm1a loss on craniofacial genes.&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;The &lt;i&gt;prdm1a&lt;/i&gt;&lt;sup&gt;&lt;i&gt;−/−&lt;/i&gt;&lt;/sup&gt; mutants exhibit craniofacial defects including a hypoplastic neurocranium, a loss of posterior ceratobranchial arches, a shorter palatoquadrate, and an inverted ceratohyal. Injection of wildtype (WT) &lt;i&gt;hPRDM1&lt;/i&gt; in &lt;i&gt;prdm1a&lt;/i&gt;&lt;sup&gt;&lt;i&gt;−/−&lt;/i&gt;&lt;/sup&gt; mutants partially rescues the palatoquadrate phenotype. However, injection of each of the three SHFM variants fails to rescue this skeletal defect. Loss of &lt;i&gt;prdm1a&lt;/i&gt; leads to a decreased expression of important craniofacial genes by RNA-seq, including &lt;i&gt;emilin3a&lt;/i&gt;, confirmed by hybridization chain reaction expression. Other genes including &lt;i&gt;dlx5a/dlx6a&lt;/i&gt;, &lt;i&gt;hand2&lt;/i&gt;, &lt;i&gt;sox9b&lt;/i&gt;, &lt;i&gt;col2a1a&lt;/i&gt;, and &lt;i&gt;hoxb&lt;/i&gt; genes are also reduced. Validation by real-time quantitative PCR in the anterior half of zebrafish embryos failed to confirm the expression changes suggesting that the differences are enriched in &lt;i&gt;prx1&lt;/i&gt; expressing cells.&lt;/p&gt;\u0000 &lt;/section&gt;\u0000 \u0000 &lt;section&gt;\u0000 \u0000 &lt;h3&gt; Conclusion&lt;/h3&gt;\u0000 \u0000 &lt;p&gt;These data suggest that the three SHFM variants are likely not functional and may be associated with the craniofacial defects observed in the humans. Finally, they demonstrate how Prdm1a can directly bind and regulate genes involv","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2327","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140058666","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":"Update on the impact of voluntary folic acid fortification of corn masa flour on red blood cell folate concentrations—National Health and Nutrition Examination Survey, 2011–March 2020","authors":"Arick Wang,&nbsp;Amy Fothergill,&nbsp;Lorraine F. Yeung,&nbsp;Krista S. Crider,&nbsp;Jennifer L. Williams","doi":"10.1002/bdr2.2321","DOIUrl":"10.1002/bdr2.2321","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Folic acid is a micronutrient that is effective at preventing neural tube defects (NTDs). In 2016, the FDA authorized the voluntary fortification of corn masa flour (CMF) with folic acid to reduce disparities in NTDs among infants of women who do not regularly consume other fortified cereal grains, in particular Hispanic women of reproductive age (WRA).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed data from the National Health and Nutrition Examination Survey (NHANES) from 2011 to March 2020 assessing the impact of voluntary fortification of CMF on the folate status of Hispanic WRA. We analyzed folic acid usual intake and red blood cell (RBC) folate concentrations among non-pregnant, non-lactating Hispanic WRA, comparing pre-fortification (2011–2016) to post-fortification (2017–March 2020) data. RBC folate concentrations were used to create model-based estimation of NTD rates.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The proportion of Hispanic WRA with folic acid usual intakes &lt;400 μg/d did not change (2011–2016: 86.1% [95% Confidence Interval, CI: 83.7–88.5]; 2017–March 2020: 87.8% [95% CI: 84.8–90.7]; <i>p</i> = .38) nor did the proportion of Hispanic WRA with RBC folate below optimal concentrations (&lt;748 nmol/L, 2011–2016: 16.0% [95% CI: 13.7–18.2]; 2017–March 2020: 18.1% [95% CI: 12.1–24.0]; <i>p</i> = 0.49). Model-based estimates of NTD rates suggest further improvements in the folate status of Hispanic WRA might prevent an additional 157 (95% Uncertainty Interval: 0, 288) NTDs/year.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Voluntary fortification of CMF with folic acid has yet to have a significant impact on the folate status of WRA. Continued monitoring and further research into factors such as fortified product availability, community knowledge, and awareness of folic acid benefits would inform and improve future public health interventions.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140064826","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":"A search for factors associated with reduced carbohydrate intake and NTD risk in two population-based studies","authors":"Gary M. Shaw,&nbsp;Wei Yang,&nbsp;Kari A. Weber,&nbsp;Andrew F. Olshan,&nbsp;Tania A. Desrosiers,&nbsp;The National Birth Defects Prevention Study","doi":"10.1002/bdr2.2328","DOIUrl":"10.1002/bdr2.2328","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Two population-based case–control studies have reported an increased risk of neural tube defect (NTD)-affected pregnancies among women with low carbohydrate diet in the periconceptional period. Given that only two studies have investigated this association, it is unclear to what degree the findings could be impacted by residual confounding. Here, we further interrogated both studies that observed this association with the objective to identify factors from a much larger number of factors that might explain the association.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>By employing a machine learning algorithm (random forest), we investigated a baseline set of over 200 variables. These analyses produced the top 10 variables in each data set for cases and controls that predicted periconceptional low carbohydrate intake.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Examining those prediction variables with logistic regression modeling, we did not observe any particular variable that substantially contributed to the NTD-low carbohydrate association in either data set.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>If there are underlying factors that explain the association, our findings suggest that none of the 200+ variables we examined were sufficiently correlated with what that true explanatory exposure may be. Alternatively, our findings may suggest that there are other unidentified factor(s) at play, or the association observed in two independent data sets is directly related to low carbohydrate intake.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140048696","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":"Limb–body wall complex: Literature review and case report","authors":"Omar Daniel Cortés-Enríquez,&nbsp;Claudia Vanessa Tapia-Fonseca,&nbsp;María Angelina Torres-Fuentes,&nbsp;Paola Berenice Torres-Riojas,&nbsp;Laura Patricia Raya-Garza","doi":"10.1002/bdr2.2322","DOIUrl":"10.1002/bdr2.2322","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Body wall anomalies comprise a wide range of malformations. Limb–Body wall complex (LBWC) represents the most severe presentation of this group, with life threatening malformations in practically all the cases, including craniofacial, body wall defects, and limb anomalies. There is no consensus about its etiology and folding and gastrulation defects have been involved. Also, impaired angiogenesis has been proposed as a causative process.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>We present the case of a masculine stillborn, product of the first pregnancy in a 15-year-old, apparently healthy mother. He was delivered at 31 weeks of gestation due to an early rupture of membranes. He presented with multiple malformations including a wide body wall defect with multiple organ herniation and meromelia of the lower right limb.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Discussion and Conclusions</h3>\u0000 \u0000 <p>LBWC represents a severe and invariably fatal pathology. There are no described risk factors, nevertheless, this case presented in a teenage mother, a well-described risk factor for other body wall anomalies. Its diagnosis allows us to discriminate between other pathologies that require prenatal or postnatal specialized treatment.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027416","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":"Correlation between COVID-19 infection and fetal situs inversus","authors":"Shuo Qiu,&nbsp;Shuang Wu,&nbsp;Ranran Yin,&nbsp;Bo Wang,&nbsp;Hongying Wu","doi":"10.1002/bdr2.2324","DOIUrl":"10.1002/bdr2.2324","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Situs inversus is a rare congenital condition, defined by the mirror-image transposition of the abdominothoracic organs. It is linked to an increased risk of different disorders, for example, congenital heart defects and primary ciliary dyskinesia. Recently, some reports have been on the increased incidence of situs inversus after the COVID-19 pandemic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objectives</h3>\u0000 \u0000 <p>To investigate the association between maternal COVID-19 infection and fetal situs inversus occurrence risk.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>All pregnant women who underwent fetal ultrasound examinations at Jinan Maternal and Child Health Hospital from January to May of 2022 and 2023 were recruited. A chi-square test was conducted to assess the association of maternal COVID-19 infection with the incidence rate of fetal situs inversus.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>A total of 8381 patients, including 25 with situs inversus fetuses were recruited. A total of 3956 patients had COVID-19, while 4400 did not. Among 25 mothers with situs inversus fetuses, 22 had COVID-19 and 3 without recent infection. Our analysis showed a strong link between COVID-19 and a higher risk of fetus situs inversus (<i>P</i> &lt; .001, odds ratio 8.196).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Maternal COVID-19 infection in the early stages of the pregnancy is associated with an increased risk of fetal situs inversion occurrence. Therefore, further research in this field seems necessary.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 3","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-03-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140027415","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":"Gastroschisis prevalence patterns in 27 surveillance programs from 24 countries, International Clearinghouse for Birth Defects Surveillance and Research, 1980–2017","authors":"Marcia L. Feldkamp,&nbsp;Mark A. Canfield,&nbsp;Sergey Krikov,&nbsp;David Prieto-Merino,&nbsp;Antonin Šípek Jr,&nbsp;Nathalie LeLong,&nbsp;Emmanuelle Amar,&nbsp;Anke Rissmann,&nbsp;Melinda Csaky-Szunyogh,&nbsp;Giovanna Tagliabue,&nbsp;Anna Pierini,&nbsp;Miriam Gatt,&nbsp;Jorieke E. H. Bergman,&nbsp;Elena Szabova,&nbsp;Eva Bermejo-Sánchez,&nbsp;David Tucker,&nbsp;Saeed Dastgiri,&nbsp;María Paz Bidondo,&nbsp;Aurora Canessa,&nbsp;Ignacio Zarante,&nbsp;Paula Hurtado-Villa,&nbsp;Laura Martinez,&nbsp;Osvaldo M. Mutchinick,&nbsp;Jorge Lopez Camelo,&nbsp;Adriana Benavides-Lara,&nbsp;Mary Ann Thomas,&nbsp;Shiliang Liu,&nbsp;Wendy N. Nembhard,&nbsp;Elizabeth B. Gray,&nbsp;Amy E. Nance,&nbsp;Pierpaolo Mastroiacovo,&nbsp;Lorenzo D. Botto","doi":"10.1002/bdr2.2306","DOIUrl":"10.1002/bdr2.2306","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Gastroschisis is a serious birth defect with midgut prolapse into the amniotic cavity. The objectives of this study were to evaluate the prevalence and time trends of gastroschisis among programs in the International Clearinghouse for Birth Defects Surveillance and Research (ICBDSR), focusing on regional variations and maternal age changes in the population.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We analyzed data on births from 1980 to 2017 from 27 ICBDSR member programs, representing 24 countries and three regions (Europe^{+ (includes Iran)}, Latin America, North America). Cases were identified using diagnostic codes (i.e., 756.7, 756.71, or Q79.3). We excluded cases of amniotic band syndrome, limb–body wall defect, and ruptured omphalocele. Programs provided annual counts for gastroschisis cases (live births, stillbirths, and legally permitted pregnancy terminations for fetal anomalies) and source population (live births, stillbirths), by maternal age.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Overall, gastroschisis occurred in 1 of every 3268 births (3.06 per 10,000 births; 95% confidence intervals [CI]: 3.01, 3.11), with marked regional variation. European⁺ prevalence was 1.49 (95%CI: 1.44, 1.55), Latin American 3.80 (95%CI: 3.69, 3.92) and North American 4.32 (95%CI: 4.22, 4.42). A statistically significant increasing time trend was observed among six European⁺, four Latin American, and four North American programs. Women &lt;20 years of age had the highest prevalence in all programs except the Slovak Republic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Gastroschisis prevalence increased over time in 61% of participating programs, and the highest increase in prevalence was observed among the youngest women. Additional inquiry will help to assess the impact of the changing maternal age proportions in the birth population on gastroschisis prevalence.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-02-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2306","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139970941","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":"Updated EUROCAT guidelines for classification of cases with congenital anomalies","authors":"Jorieke E. H. Bergman,&nbsp;Annie Perraud,&nbsp;Ingeborg Barišić,&nbsp;Agnieszka Kinsner-Ovaskainen,&nbsp;Joan K. Morris,&nbsp;David Tucker,&nbsp;Diana Wellesley,&nbsp;Ester Garne","doi":"10.1002/bdr2.2314","DOIUrl":"10.1002/bdr2.2314","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Precise and correct classification of congenital anomalies is important in epidemiological studies, not only to classify according to etiology but also to group similar congenital anomalies together, to create homogeneous subgroups for surveillance and research. This paper presents the updated EUROCAT (European surveillance of congenital anomalies) subgroups of congenital anomalies and the updated multiple congenital anomaly (MCA) algorithm and provides the underlying arguments for the revisions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>The EUROCAT methodology is described. In addition, we show how we validated the revised EUROCAT subgroups and MCA algorithm, which are both based on the International Classification of Diseases (ICD10/ICD9) codes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The updated EUROCAT subgroups and the updated MCA algorithm are described in detail and the updated version is compared to the previous versions.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>The EUROCAT subgroups and MCA algorithm provide a standardized and clear methodology for congenital anomaly research and epidemiological surveillance of congenital anomalies in order to facilitate the identification of teratogenic exposures and to assess the impact of primary prevention and prenatal screening policies. The EUROCAT subgroups and MCA algorithm are made freely available for other researchers via the EUROCAT Database Management Software.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2314","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740400","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":"Arginase 1 does not affect RNA m6A methylation in mouse fetal lung","authors":"Xuesong Sui,&nbsp;Yanyu Sui,&nbsp;Peihua Long,&nbsp;Yifei Wang,&nbsp;Yu Chen,&nbsp;Wenjia Zhai,&nbsp;Lu Gao","doi":"10.1002/bdr2.2318","DOIUrl":"10.1002/bdr2.2318","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Arginase 1 (Arg1) encodes a key enzyme that catalyzes the metabolism of arginine to ornithine and urea. In our recent study, we found that knockdown of Arg1 in the lungs of fetal mice induces apoptosis of epithelial cells and dramatically delays initiation of labor. As the most abundant internal mRNA modification, N⁶-methyladenosine (m⁶A) has been found to play important roles in lung development and cellular differentiation. However, if the knockdown of Arg1 affects the RNA m6A modification in fetal lungs remains unknown.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>In the current study, the RNA m6A levels and the expression of RNA m6A related enzymes were validated in 13.0 dpc fetal lungs that Arg1 was knocked down by adeno-associated virus carrying Arg1-shRNA, using western blot, immunofluorescence, and RT-qPCR.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>No statistical differences were found in the expression of methyltransferase, demethylases, and binding proteins in the fetal lungs between AAV-shArg1-injected mice and AAV-2/9-injected mice. Besides, there is no significant change of overall RNA m6A level in fetal lungs from AAV-shArg1-injected mice, compared with that from AAV-2/9-injected mice.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>These results indicate that arginase 1 does not affect RNA m6A methylation in mouse fetal lung, and the mechanisms other than RNA m6A modification underlying the effects of Arg1 knockdown on the fetal lung development and their interaction with labor initiation need to be further explored.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 2","pages":""},"PeriodicalIF":2.1,"publicationDate":"2024-02-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139740398","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}