Birth Defects Research最新文献

{"title":"Otocephaly Diagnosed Prenatally: A Case Study of a Rare Congenital Defect","authors":"Birsen Konukcu","doi":"10.1002/bdr2.2421","DOIUrl":"10.1002/bdr2.2421","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Agnathia-otocephaly complex (AOC) is a rare and complex craniofacial malformation characterized by mandibular hypoplasia or agnathia, auricular fusion, microstomia with oroglossal hypoplasia or aglossia. It has a very bad prognosis and can arise alone or in conjunction with heart defects and forebrain abnormalities.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Case Report</h3>\u0000 \u0000 <p>A standard second-trimester ultrasound exam was recommended for, a 23-year-old primigravida woman who was at 22 weeks gestation. The oral fissure was “pinhole-shaped,” the mouth was incredibly small, and the usual lower jaw and lower lip had vanished from the S-curve. On the front of the neck were the two ears. Amniocentesis revealed a 46,XY normal karyotype. The family opted for a medically assisted termination. At 23 weeks, the pregnancy was ended by vaginal delivery. Observation of the specimen revealed that the ear placements were remarkably low, and the specimen's observation revealed that the two earlobes were joined at the front of the neck.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>Identifying the development of the mandible and locating auricles during prenatal ultrasound diagnosis was particularly challenging could be a better way to phrase this like in our recent example, the combination of two-dimensional and three-dimensional ultrasound was able to confirm the prenatal diagnosis of AOC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142852573","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":"Factor Analysis of the Missed Diagnosis of Total Anomalous Pulmonary Venous Connection in Prenatal Echocardiography","authors":"Qichang Zhou,&nbsp;Dongmei Liu,&nbsp;Jiawei Zhou,&nbsp;Qiao Guo,&nbsp;Hongxia Yuan,&nbsp;Yinchun Luo,&nbsp;Ling Wang,&nbsp;Chan Yin,&nbsp;Zhongshi Wu,&nbsp;Qinghai Peng,&nbsp;Zhang Ming,&nbsp;Zeng Shi,&nbsp;Xu Ganqiong,&nbsp;Dan Zhou,&nbsp;Yang Yang","doi":"10.1002/bdr2.2426","DOIUrl":"10.1002/bdr2.2426","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Aim</h3>\u0000 \u0000 <p>This study investigated the major factors contributing to the missed diagnosis of total anomalous pulmonary venous connection (TAPVC) in fetal echocardiography.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>We retrospectively analyzed the prenatal ultrasonic images of 32 fetuses with missed diagnoses of TAPVC, compared them with autopsy and postnatal surgical records, and summarized the most likely reasons leading to the missed diagnoses.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Results</h3>\u0000 \u0000 <p>We studied a total of 157 fetuses with TAPVC, 32 (20.3%) of whom were missed in prenatal echocardiography. The main factors for the missed diagnoses of TAPVC in the 32 fetuses were anatomic variants leading to the formation of a false pulmonary venous horn-like structure, the combination of TAPVC with other intracardiac anomalies, difficulty or inability to show the course and abouchement of TAPVC on conventional color Doppler flow imaging (CDFI), and excessive color flow gain, with a rate of approximately 53.1% (17/32). A decreased left atrial size and augmentation of the PLAS index may be indicators of false pulmonary venous horn-like structure.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusion</h3>\u0000 \u0000 <p>False pulmonary venous horn-like structures due to anatomic variants are a major factor in the missed diagnosis of fetal TAPVC. The presence of pulmonary venous horn-like structure in a four-chamber view does not completely exclude TAPVC.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142845986","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":"Life Course Considerations in Environmental Health: Developmental Neurotoxicity of Domoic Acid at Doses Below Acute Effect Levels in Adult Humans","authors":"Marlissa A. Campbell,&nbsp;Shannon R. Murphy,&nbsp;Susan A. Klasing,&nbsp;Yassaman Niknam,&nbsp;Poorni Iyer,&nbsp;Beckye Stanton,&nbsp;Lauren Zeise","doi":"10.1002/bdr2.2419","DOIUrl":"10.1002/bdr2.2419","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <h3> Background</h3>\u0000 \u0000 <p>Current US federal action levels for domoic acid (DA) in seafood are based on acute toxicity observed in exposed adult humans. Life course considerations have not been incorporated. The potential for developmental neurotoxicity (DNT) at permissible DA levels has previously been noted, but not methodically assessed.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Methods</h3>\u0000 \u0000 <p>Studies of DNT following DA exposure in experimental and wild animals were identified through a comprehensive search strategy. Evidence from papers meeting inclusion criteria was evaluated for specific outcomes reported for doses at which adverse effects were observed. Exposure levels associated with DNT were compared with those known to cause adult toxicity. The findings are discussed in the context of the well-characterized mechanism of DA neurotoxicity, as well as the toxicokinetics of DA across species and life stages.</p>\u0000 </section>\u0000 \u0000 <section>\u0000 \u0000 <h3> Conclusions</h3>\u0000 \u0000 <p>DNT outcomes were reported with a no observed adverse effect level (NOAEL) 10 times lower than the NOAEL of 0.75 mg DA/kg for acute effects in adults. Apart from reviewing current regulatory action levels, public health outreach messaging to health care professionals and sensitive populations, such as pregnant or breastfeeding women, should be considered as a means of increasing awareness about risk for DNT from consumption of potentially DA-contaminated seafood.</p>\u0000 </section>\u0000 </div>","PeriodicalId":9121,"journal":{"name":"Birth Defects Research","volume":"116 12","pages":""},"PeriodicalIF":1.6,"publicationDate":"2024-12-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11639046/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142817039","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":"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":"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":"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":"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}