Birth Defects Research最新文献

{"title":"Association of HLA-G 3′-UTR Haplotypes With Recurrent Spontaneous Abortion in Women From Northwest Iran","authors":"Amin Moqadami,&nbsp;Mohammad Khalaj-Kondori,&nbsp;Mehdi Haghi","doi":"10.1002/bdr2.2418","DOIUrl":"10.1002/bdr2.2418","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background and Objective(s)</h3>\u0000 \u0000 <p>Human leukocyte antigen-G (HLA-G) is a critical protein in immune regulation and tolerance. Recurrent spontaneous abortion (RSA) is a complex disease influenced by genetic, immune dysfunction, and environmental factors. This study investigates the role of HLA-G polymorphisms in the development of RSA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Blood samples were collected from 80 women with RSA and 200 women without a history of RSA. After DNA extraction, PCR was used to sequence the 3′-UTR region. Allelic and genotypic frequencies were analyzed, and Haploview software was used for haplotype analysis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Individual polymorphisms did not significantly differ between the two groups. However, haplotype analysis revealed significant differences. The UTR-2 haplotype was more frequent in the RSA group compared to the healthy control group (<i>p</i> = 0.020), suggesting a potential association. Conversely, the UTR-4 haplotype had a significantly lower frequency in the RSA group (<i>p</i> = 0.041), indicating a protective role against RSA.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>While individual polymorphisms did not differ significantly, haplotype analysis identified significant associations with RSA. These findings provide valuable insights into the genetic basis of the disease and may contribute to the development of new treatments and diagnostic tools.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811877","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":"Observed Prevalence of Congenital Situs Inversus in the United States Before and During the SARS-CoV-2 Pandemic, 2017–2022","authors":"Janet D. Cragan,&nbsp;Sook-Ja Cho,&nbsp;Nina Forestieri,&nbsp;Michele Hort,&nbsp;Eirini Nestoridi,&nbsp;Cynthia A. Moore,&nbsp;Erin Stallings,&nbsp;Elizabeth B. Gray,&nbsp;Jennita Reefhuis","doi":"10.1002/bdr2.2424","DOIUrl":"10.1002/bdr2.2424","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Reports from China describe an increase in the frequency of fetal situs inversus in 2023 after the country's “zero-Covid” policy was lifted, suggesting an association with maternal SARS-CoV-2 infection. However, a report of birth defects surveillance data from Scandinavia observed no sustained increase during the SARS-CoV-2 pandemic (2020–2022 vs. 2018–2019). We examined birth defects surveillance data to assess any increase in situs inversus in the U.S. during the SARS-CoV-2 pandemic.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We combined data from four population-based birth defects programs in Massachusetts, Minnesota, North Carolina, and Atlanta, Georgia, to compare the prevalence of situs inversus among infants and fetuses delivered before (2017–2019) and during (2021–2022) the SARS-CoV-2 pandemic. We defined situs inversus as mirror-image transposition of the heart and/or other organs, or primary ciliary dyskinesis with situs inversus, excluding isolated dextrocardia. The programs varied in the pregnancy outcomes included (live births ± non-live births); all included both prenatal and postnatal diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We identified 294 infants and fetuses with situs inversus (6.8% non-live births). We estimated the combined prevalence per 10,000 live births as 1.72 during the pandemic versus 1.71 before the pandemic (OR = 1.005; 95% CI: 0.778–1.297). The estimated annual prevalence ranged from 1.41 in 2017 to 2.21 in 2019 with no significant trend across the study period (<i>p</i> = 0.39).</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We did not observe an increase in situs inversus during the SARS-CoV-2 pandemic. Because information about SARS-CoV-2 infection among individual pregnancies was not available from all programs, we could not assess a specific association with maternal infection.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811881","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":"Sirenomelia—Challenges and Treatment Approach in a Rare Case","authors":"Daria Sosińska,&nbsp;Andrzej Gołębiewski,&nbsp;Piotr Czauderna","doi":"10.1002/bdr2.2425","DOIUrl":"10.1002/bdr2.2425","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Introduction</h3>\u0000 \u0000 <p>Sirenomelia is a very rare congenital structural anomaly characterized by abnormal development of the caudal region of the body with varying degrees of fusion of lower limbs. Mostly, the condition is lethal for the baby. Most babies do not survive even after surgery. Fifty percent of cases are seen as stillbirths, and it is much more common in identical twins.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>We present a case of a boy born in 38th week of gestation (hebdomas graviditatis—HBD) with diagnosed sirenomelia, microcephaly, bilateral renal agenesis, duodenal atresia, imperforate anus, and agenesis of external genitalia. We provide a brief review of the literature and discussion concerning similar cases, determinants, pathogenesis and suspected genetic factors.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Due to accompanying malformations, there is often no treatment for sirenomelia. Avoidance of risk factors, early diagnosis, multidisciplinary approach and psychological preparation of parents to help them cope emotionally and mentally with the challenges, seem to be the key factors of management. It is very important to diagnose this condition by ultrasonography prenatally so that termination of pregnancy can be carried out.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811883","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":"Melatonin Attenuates PFOS-Induced Reproductive Toxicity of Pregnant Mice due to Placental Damage Via Antioxidant, Anti-Aging and Anti-Inflammatory Pathways","authors":"Jianqiu Han,&nbsp;Zhikai Lu,&nbsp;Yalei Qi,&nbsp;Tengfei Liu,&nbsp;Yongmei Li,&nbsp;Honghui Han,&nbsp;Chen Zhao,&nbsp;Xueyun Ma","doi":"10.1002/bdr2.2423","DOIUrl":"10.1002/bdr2.2423","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Perfluorooctane sulfonate (PFOS), an industrially synthesized persistent organic pollutant (POP), is intricately intertwined with human production and daily life. It has been discovered that PFOS is related to an elevated incidence of birth defects in fetuses. In contrast, melatonin (MLT), a hormone secreted by the pineal gland, has been demonstrated to exert a protective effect on reproductive development.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>This paper investigates the protective effect of MLT against PFOS-induced reproductive toxicity by simultaneously orally administering MLT to pregnant mice exposed to PFOS. The therapeutic effect was evaluated through the monitoring of pregnancy outcomes, histological changes in the placenta, apoptosis and proliferation of placental spongiotrophoblast, as well as the expression of antioxidant enzyme genes, anti-aging genes, anti-inflammatory genes and other relevant genes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The results of the study demonstrated that MLT treatment reversed the adverse pregnancy outcomes caused by toxic PFOS, including a low number of implanted fetuses, low neonatal fetal weight, and an increased number of resorbed fetuses. MLT treatment decreased the levels of MDA, an oxidation product generated by PFOS in the placenta of pregnant mice, and increased the levels of the antioxidant enzyme SOD. Additionally, MLT was able to maintain the normalization of placental structure, reduce apoptosis and sustain the proliferation of placental spongiotrophoblast by upregulating the expression of antioxidant genes (Nrf2, CAT) and anti-aging gene (Klotho), anti-inflammatory gene (Hsd11b2), thereby counteracting the oxidative stress caused by PFOS in the placenta, moreover, it also reduced the expression of inflammatory genes (Pycard) in the placenta.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The findings firmly establish the effectiveness of MLT in mitigating the harmful impacts of tainted PFOS on reproductive development during pregnancy. This provides a novel therapeutic approach for addressing PFOS-induced birth defects in fetuses.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11635750/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811879","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":"Associations Between Maternal Periconceptional Alcohol Consumption and Risk of Craniosynostosis Among Offspring, National Birth Defects Prevention Study, 1997–2011","authors":"Sarah C. Fisher,&nbsp;Paul A. Romitti,&nbsp;Melissa Tracy,&nbsp;Meredith M. Howley,&nbsp;Ethylin Wang Jabs,&nbsp;Marilyn L. Browne,&nbsp;the National Birth Defects Prevention Study","doi":"10.1002/bdr2.2420","DOIUrl":"10.1002/bdr2.2420","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Previous studies of maternal alcohol consumption and craniosynostosis have reported null or inverse associations. We updated a previous analysis of National Birth Defects Prevention Study (NBDPS) data to further examine associations between maternal alcohol consumption and craniosynostosis.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>NBDPS was a multi-site, population-based case–control study. Mothers of craniosynostosis cases and randomly selected liveborn controls delivered during 1997–2011 completed a telephone interview about pregnancy exposures. We examined associations for self-reported periconceptional maternal alcohol consumption (during the month before conception through the third gestational month) and odds of craniosynostosis in offspring. We used logistic regression to estimate odds ratios (ORs) and 95% confidence intervals (CIs) for associations between any alcohol consumption and binge consumption and craniosynostosis, overall and by affected suture. Finally, we performed a probabilistic bias analysis using a range of assumptions about the sensitivity and specificity of self-reported consumption by case/control status.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We analyzed interview data from 1435 mothers of craniosynostosis cases and 11,216 mothers of controls. Periconceptional alcohol consumption prevalence was similar among case (36.9%) and control (38.2%) mothers. We observed point estimates near or below 1.0 for alcohol consumption (any and binge) and all suture subtypes of craniosynostosis, with all CIs including the null. Our bias-adjusted estimates for periconceptional alcohol consumption were higher than our conventional estimates but supported the null findings.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>We observed primarily null associations between maternal periconceptional alcohol consumption and craniosynostosis. However, our findings do not diminish the prevailing clinical guidance in the United States that pregnant people should abstain from alcohol consumption.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142811878","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":"Childhood Educational Outcomes of Infants Born With Esophageal Atresia With or Without Tracheoesophageal Atresia","authors":"Nahed O. ElHassan,&nbsp;Ruiqi Cen,&nbsp;Charles P. Pugh,&nbsp;Chary Akmyradov,&nbsp;Jun Ying,&nbsp;Anthony Goudie,&nbsp;Wendy N. Nembhard","doi":"10.1002/bdr2.2417","DOIUrl":"10.1002/bdr2.2417","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>There are limited studies on educational outcomes of children born with esophageal atresia (EA) with or without tracheoesophageal fistula (TEF). We aimed to compare 3rd to 5th grade academic proficiency among children born with EA/TEF versus unaffected children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Children born with EA/TEF (2000–2005) were identified from the Arkansas Reproductive Health Monitoring System. For each child born with EA/TEF, up to two unaffected children were selected from birth certificates and matched on hospital and month of birth, sex, and race and ethnicity. Data on NICU hospitalization were abstracted from medical records at Arkansas' only pediatric specialty hospital. The study outcomes were 3rd to 5th grade proficiency on literacy and mathematic standardized achievement tests, referral to special education, and days of school absence. Regression models were used to assess the association of outcome measures with diagnosis of EA/TEF, after adjusting for differences in covariates between EA/TEF and unaffected children and accounting for paired correlations using the generalized estimating equation method.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The final cohort included 20 surviving children born with EA/TEF and 31 unaffected children. There was no significant difference in literacy (3rd: 70% vs. 71%; 4th: 83% vs. 81%; 5th: 94% vs. 87%, p &gt; 0.05) or mathematics proficiency (3rd: 80% vs. 87%; 4th: 83% vs. 78%; 5th: 75% vs. 78%, <i>p</i> &gt; 0.05), referral to special education (20% vs. 19%, <i>p</i> = 0.65), or total days of school absence (47 vs. 26 days, <i>p</i> = 0.07) between EA/TEF and unaffected children.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>Children born with EA/TEF had comparable academic proficiency to unaffected children.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794232","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":"Parental Smoking and the Risk of Birth Defects in Offspring in China: A Systematic Review and meta-Analysis","authors":"Jinxi Han,&nbsp;Yunxia Zhang,&nbsp;Yibo Liu,&nbsp;Jikai Liu,&nbsp;Yuehua Zhang,&nbsp;Kaijuan Wang","doi":"10.1002/bdr2.2422","DOIUrl":"10.1002/bdr2.2422","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>A meta-analysis of case-control studies was conducted to assess the risk of birth defects in offspring in China associated with maternal active and passive smoking and paternal smoking.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Four electronic databases were searched for qualified research up to December 2023. A Random-effect model or fixed-effect model was used to calculate the overall comprehensive risk estimates; and the relationship between parental smoking and the risk of birth defects in different periods of pregnancy. Subgroup and sensitivity analyses were performed to explore possible sources of heterogeneity.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>Sixty-two qualified studies involving 137,574 cases and 8,770,837 controls were included. Overall, maternal active smoking (OR = 2.19; 95% confidence interval (CI): 1.72–2.79; <i>p</i> &lt; 0.01) and passive smoking (OR = 2.59,95% CI: 2.24–2.99; <i>p</i> &lt; 0.01) as well as paternal active smoking (OR = 1.47,95% CI: 1.34–1.62; <i>p</i> &lt; 0.01) were significantly associated with birth defect risk. The sources of heterogeneity were explored by subgroup analysis. Subgroup analysis showed that the risk of congenital heart disease in offspring was increased in paternal and maternal active smoking (OR = 2.97, 95% CI: 2.01–4.39; OR = 1.51, 95% CI: 1.30–1.74), respectively. Sensitivity analysis yielded consistent results.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Maternal active and passive smoking and paternal active smoking are risk factors for birth defects in offspring. Parents should be encouraged to quit smoking during the perinatal period and pregnancy.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142794256","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":"Protective Role of Vitamin B6 Against Teratogenic Effects Induced by Lead in Chick Embryo","authors":"Waheed Ahmad,&nbsp;Muhammad Ali Kanwal,&nbsp;Iram Inayat,&nbsp;Syeda Nadia Ahmad,&nbsp;Aima Iram Batool,&nbsp;Nazish Ghazanfar,&nbsp;Rabia Idrees,&nbsp;Sadia Suleman,&nbsp;Asma Younis,&nbsp;Khawaja Raees Ahmad","doi":"10.1002/bdr2.2416","DOIUrl":"10.1002/bdr2.2416","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Heavy metals like lead (Pb) have been used by humans for a very long time, but throughout the industrial revolution, their use expanded, increasing exposure to the metal. Lead, however, has no biological purpose in the human body and is hazardous when it gets into soft tissues and organs. Lead is still used in a variety of industries, including battery manufacturing and car maintenance, despite efforts to limit its usage.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Objective</h3>\u0000 \u0000 <p>This study investigates the teratogenic and morphometric effects of lead on chick embryos and the potential ameliorative effects of vitamin B6.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Two hundred fertilized eggs from the golden black chicken were divided into four groups: control, lead acetate, vitamin B6, and lead + vitamin B6.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>On the 14th day, embryos were analyzed. Significant reductions in body weight and size were observed in the lead-exposed group (33.93 ± 1.27 g) compared to the control (41.12 ± 0.97 g). Pronounced deformities included rudimentary beaks, protruding eyes, tridactyl limbs, hydrocephaly, and neck deformities. Appendicular deformities like phocomelia, amelia, and abnormal phalanges growth were also noted. Vitamin B6 demonstrated therapeutic benefits, significantly improving mean embryo weight in the Lead + Vitamin B6 group (42.37 ± 0.99 g). The lead-exposed group showed a reduction in maxilla length (3.61 ± 1.30 mm) compared to the Lead + Vitamin B6 group (7.57 ± 0.79 mm). This group also showed reduced severity of muscular dystrophy and bone thinning, with signs of recovery in beak and bone sizes.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>The study highlights vitamin B6's beneficial impact in mitigating lead's toxic effects on chick embryonic development.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142715365","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 of Congenital Ocular Anomalies in 15 Countries of Europe: Results From the Medikeye Study","authors":"Charlotte Dubucs,&nbsp;Anthony Caillet,&nbsp;Félix Frémont,&nbsp;Laurane Delteil,&nbsp;Van N'Go,&nbsp;Amanda Julie Neville,&nbsp;Elisa Ballardini,&nbsp;Helen Dolk,&nbsp;Maria Loane,&nbsp;Ester Garne,&nbsp;Babak Khoshnood,&nbsp;Nathalie Lelong,&nbsp;Anke Rissmann,&nbsp;Mary O'Mahony,&nbsp;Anna Pierini,&nbsp;Miriam Gatt,&nbsp;Jorieke Bergman,&nbsp;Maciej Robert Krawczynski,&nbsp;Anna Latos Bielenska,&nbsp;Luis Javier Echevarría González de Garibay,&nbsp;Clara Cavero-Carbonell,&nbsp;Marie-Claude Addor,&nbsp;David Tucker,&nbsp;Sue Jordan,&nbsp;Elly Den Hond,&nbsp;Vera Nelen,&nbsp;Ingeborg Barisic,&nbsp;Florence Rouget,&nbsp;Hanitra Randrianaivo,&nbsp;Jonathan Hoareau,&nbsp;Isabelle Perthus,&nbsp;Caroline Hurault-Delarue,&nbsp;Monique Courtade-Saïdi,&nbsp;Christine Damase-Michel","doi":"10.1002/bdr2.2414","DOIUrl":"https://doi.org/10.1002/bdr2.2414","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Congenital ocular anomalies (COA) are among the most common causes of visual impairment in children in high-income countries. The aim of the study is to describe the prevalence of the various COA recorded in European population-based registries of CA (EUROCAT) participating in the EUROmediCAT consortium.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Data from 19 EUROmediCAT registries and one healthcare database (EFEMERIS) were included in this descriptive epidemiological study. Cases of COA included live births, FD from 20 weeks gestational age (GA), and termination of pregnancy for fetal anomaly.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>The prevalence of total COA was 3.47/10,000 births (95% CI [3.61–3.82]), ranging from 1.41 to 13.46/10,000 depending on the registry. Among COA cases, congenital lens anomalies were the most frequent anomalies (31%), of which over half were single ocular anomalies (presenting with only one ocular anomaly). An/microphthalmia was the second most frequent COA (24%) of which three-quarters were multiply malformed (associated to extraocular major anomalies). Among single COA cases, 58 were prenatally diagnosed (4%), of which, 58% were diagnosed in the second trimester. Known genetic causes of COA explained 2.5%–25% of COA depending on their class.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>This is the first European study describing COA. The detailed prevalence data offered in this study could improve screening and early diagnosis of different classes of COA. As COA are rare, epidemiological surveillance of large populations and accurate clinical descriptions are essential.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/bdr2.2414","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708355","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":"Epidemiology of Macrocephaly in the Texas Birth Defects Registry, 1999–2019","authors":"Rachel P. Allred,&nbsp;J. Aguilar-Martinez,&nbsp;R. Howell,&nbsp;Dayana Betancourt,&nbsp;Lisa Marengo,&nbsp;A. Dixon,&nbsp;H. Jeon,&nbsp;C. Yantz,&nbsp;M. Kilburn,&nbsp;Margaret Drummond-Borg,&nbsp;Joanne Nguyen,&nbsp;Fernando Arena,&nbsp;Charles Shumate","doi":"10.1002/bdr2.2415","DOIUrl":"https://doi.org/10.1002/bdr2.2415","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;Macrocephaly is a clinical observation denoted as an occipitofrontal head circumference exceeding two standard deviations above same age and sex norms. By its definition, macrocephaly occurs in approximately 3% of the population. Descriptive epidemiologic evaluations of macrocephaly are lacking in the literature. The primary objective of this study was to describe the prevalence of macrocephaly captured by the Texas Birth Defects Registry (TBDR) by infant sex, rural/urban residence, and select maternal characteristics.&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;Cases of TBDR between 1999 and 2019 with a six-digit Centers for Disease Control modified-British Pediatric Association (BPA) code of 742.400 (enlarged brain/head, large head, macrocephaly, megalencephaly) were identified. All pregnancy outcomes and diagnostic certainties were included. Prevalence (per 10,000 live births) and 95% confidence intervals (CIs) were calculated using a Poisson table by rural/urban residence, infant sex, maternal age, education, race/ethnicity, history of diabetes, and body mass index (BMI). Prevalence calculations were repeated across multiple sensitivity analyses including (1) definite, isolated cases excluding those with indication of being either “benign” or “familial”, (2) definite, non-isolated cases, (3) definite non-isolated cases excluding chromosomal and syndromic cases, and (4) definite, proportionate (at birth) cases. A secondary objective was to describe the most common co-occurring congenital defects among definite, non-isolated cases.&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;Overall, between 1999 and 2019, 14,637 cases of macrocephaly were identified in the TBDR resulting in a prevalence of 18.12/10,000 live births (95% CI: 17.83–18.42). Most cases were live born (99%), had a definite diagnosis (87%), and were non-isolated (57%). Prevalence was significantly higher among males, among those with an urban residence, and among mothers who were older, Non-Hispanic White, who had greater than high school education, who had a history of diabetes, and who were obese. Prevalence patterns remained consistent across all sensitivity analyses. The most common co-occurring congenital defects among definite, non-isolated cases were minor and primarily included skull and facial bone anomalies (e.g., plagiocephaly [18%]).&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;To our knowledge, this is the first epidemiologic evaluation of macrocephaly in a birth defects registry. The long-term clinical impact of isolated macrocephaly is not well understood and should be the focus of future investigations.&lt;","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 11","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-11-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142708357","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}