gastroschisis

胃裂
  • 文章类型: Systematic Review
    背景:胃裂是脐带环的先天性异常,患病率不断增加,尤其是年轻的母亲。越来越多的证据表明,暴露于泌尿生殖系统感染(GUTI)可能在胃裂的病因中起重要作用。本系统综述和荟萃分析旨在确定,评价,并总结有关GUTI和腹裂暴露的文献。
    方法:六个电子数据库(MEDLINE,EMBASE,WebofScience,Scopus,Cochrane图书馆电子数据库,和Prospero)使用全面的搜索策略进行搜索。检索所有纳入研究的引文和引文。同行评议,纳入了报告尿路感染(UTI)和/或性传播感染(STI)与腹裂相关的定量研究.Prospero注册CRD420223777420。
    结果:通过检索确定了2392篇论文,其中15篇符合我们的纳入标准,并在标题和摘要以及全文筛选后纳入。纳入研究的研究期为1995年至2016年,大部分来自美国。考虑暴露于性传播感染和UTI的四项研究有资格进行荟萃分析。荟萃分析发现,与感知暴露于UTI相关的腹裂风险显着增加[OR1.54(95%CI1.29,1.8)],性传播感染[OR1.4(95%CI1.01,1.79)]。
    结论:感知GUTI暴露与腹裂风险增加相关。在育龄妇女中预防和及时治疗GUTI可能有助于减少腹裂的发生。
    BACKGROUND: Gastroschisis is a congenital anomaly of the umbilical ring with increasing prevalence, especially amongst younger mothers. There is increasing evidence that exposure to genitourinary infections (GUTI) may play an important role in the etiology of gastroschisis. This systematic review and meta-analysis aimed to identify, appraise, and summarize the literature on exposure to GUTI and gastroschisis.
    METHODS: Six electronic databases (MEDLINE, EMBASE, Web of Science, Scopus, Cochrane Library electronic databases, and Prospero) were searched using a comprehensive search strategy. Citations and cited articles for all included studies were searched. Peer-reviewed, quantitative studies reporting an association of urinary tract infections (UTI) and/or sexually transmitted infections (STI) with gastroschisis were included. Prospero registration CRD42022377420.
    RESULTS: A total of 2392 papers were identified via the searches of which 15 met our inclusion criteria and were included after title and abstract and full text screening. The study period for included studies ranged from 1995 to 2016, most were from the USA. Four studies considering exposure to STIs and five to UTIs were eligible to progress to meta-analysis. Meta-analysis identified a significantly increased risk of gastroschisis in association with periconceptional exposure to UTI [OR 1.54 (95% CI 1.29, 1.8)], STI [OR 1.4 (95% CI 1.01, 1.79)].
    CONCLUSIONS: Periconceptional exposure to GUTI is associated with an increased risk of gastroschisis. The prevention and timely treatment of GUTI amongst women of childbearing age may help to reduce the occurrence of gastroschisis.
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  • 文章类型: Journal Article
    关闭儿童的先天性体壁缺陷对儿科外科医生来说可能是一项具有挑战性的任务。生物假体已越来越多地用于成人患者的高风险伤口闭合,并在儿科人群中使用。这里,我们的目的是研究用组织工程的无细胞牛心包补片修复腹部伤口的效果。
    在21个月的时间里,共有15名儿童接受了生物假体腹部伤口修复,即,我们研究所的牛心包贴片。患者人口统计学,缺陷的原因,补丁使用的迹象,感染率,术后恢复,复发,和结果进行了研究。
    共有15例患者接受了无细胞牛心包补片的腹壁封闭。15名患者中有9名是新生儿,其中五个患有胃裂,两个人患有先天性膈疝,还有两个大脐膨出破裂。其余6名患者中,2人是膀胱外翻患者,2名患有先天性膈疝伴切口疝的大龄儿童,和2个是大龄儿童患有脐膨出。在五个腹裂患者中,其中2人在术后早期因脓毒症死亡.其余13例患者伤口愈合,2例患者皮肤轻度裂开。只有一个孩子复发了。
    无细胞牛心包补片重建是高危腹部创伤儿童的可行选择,因为它可以实现无张力修复,愈合良好,并发症少。复发,如果有的话,可能会随着时间的推移而消失,因为假体的重塑会随着儿童体壁的生长而发生。
    UNASSIGNED: Closure of congenital body wall defects in children can be a challenging task for the pediatric Surgeon. Biological prosthesis has been increasingly used for high-risk wound closure in adult patients with excellent outcomes and use in the pediatric population has also been reported. Here, we aim to study the outcome of abdominal wound repair with a tissue-engineered acellular bovine pericardial patch.
    UNASSIGNED: Over a period of 21 months, a total of 15 children had undergone abdominal wound repair with bioprostheses, i.e., bovine pericardial patch at our institute. Patient demographics, cause of defect, an indication of patch use, rate of infection, postoperative recovery, recurrence, and outcome were studied.
    UNASSIGNED: A total of 15 patients underwent abdominal wall closure with acellular bovine pericardial patch. Nine out of 15 patients were neonates, of whom five had gastroschisis, two had a congenital diaphragmatic hernia, and two had ruptured omphalocele major. Of the rest 6 patients, 2 were patients of bladder exstrophy, 2 were older children of congenital diaphragmatic hernia with incisional hernias, and 2 were older children with omphalocele major. Out of the five patients with gastroschisis, two died during the early postoperative period due to sepsis. The wound healed in the rest 13 patients with mild skin dehiscence in two patients. Only one child had a recurrence.
    UNASSIGNED: Reconstruction with acellular bovine pericardial patch is a viable option in children with high-risk abdominal wounds as it allows tensionless repair with excellent healing and minimal complications. Recurrence, if any, may disappear with time as remodeling of the prosthesis occurs along with the growth of the body wall of the child.
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  • 文章类型: Journal Article
    先天性腹壁缺损(CAWD)的全球患病率有所增加,最常见的是腹裂(GS)和脐膨出(OC)。人们普遍认为,在母体饮食中补充叶酸(FAS)可以降低神经管缺陷等异常现象的发生率,但是对于其他先天性畸形可能的有益作用存在争议。一些流行病学研究引发了关于维生素补充剂与腹壁畸形发生之间可能关系的争议。本研究的目的是对新生儿CAWD的全球发生率以及母亲与FAS的关系进行最新综述。为此,我们在2011年至2022年之间对不同文章数据库中的流行病学研究进行了系统搜索。对在不同国家/地区进行的25项研究的分析表明,直接或与其他先天性缺陷一起登记了OC和/或GS的病例,其中60%调查了FAS与CAWD发生率的关系。其中一半提出了FAS的有益效果,另一半发现没有关联,结论是,没有一致的证据表明FAS在产妇饮食中降低CAWD的发病率。然而,似乎要考虑的一个影响因素是母亲的营养习惯。
    There is an increase in the worldwide prevalence of congenital abdominal wall defects (CAWD), with gastroschisis (GS) and omphalocele (OC) being the most common. It is widely accepted that folic acid supplementation (FAS) in the maternal diet decreases the incidence of anomalies such as neural tube defects, but there is controversy regarding the possible beneficial role for other congenital malformations. Several epidemiological studies raise controversy regarding a possible relationship between vitamin supplementation with the occurrence of abdominal wall malformations. The aim of the present study is to obtain an updated review of the global frequency of CAWD in neonates and the relationship with FAS in the mothers. For this we have carried out a systematic search of epidemiological studies in different article databases between 2011 and 2022. The analysis of 25 studies conducted in different countries where cases of OC and/or GS are registered directly or together with other congenital defects shows that 60% inquire into the relationship of FAS with the incidence of CAWD. Half of them proposes a beneficial effect of FAS and the other half find no association, concluding that there is no unanimous evidence that FAS in the maternal diet decreases the incidence of CAWD. However, it seems that an influential factor to take into account is the nutritional habits of the mothers.
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  • 文章类型: Journal Article
    先天性腹裂与绒毛发育延迟和胎盘灌注不良有关,提示胎盘受累。这项研究使用RNA测序来比较有和没有腹裂的妊娠中的胎盘转录组。180个编码基因差异表达,映射到多个基因本体途径。胎盘基因表达的改变可能代表胎盘的胎儿信号,这些变化可能有助于胃裂的发病机制和相关的发病率,包括胎儿生长受限.
    The congenital condition gastroschisis is associated with delayed villous development and placental malperfusion, suggesting placental involvement. This study uses RNA sequencing to compare the placental transcriptome in pregnancies with and without gastroschisis. 180 coding genes were differentially expressed, mapping to multiple gene ontology pathways. Altered placental gene expression may represent fetal signalling to the placenta, and these changes could contribute to the pathogenesis of gastroschisis and associated morbidities, including fetal growth restriction.
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  • 文章类型: Case Reports
    肢体墙复合体(LBWC),也被称为体茎异常,是一种罕见且致命的前腹壁疾病。它的特点是胎儿先天性畸形的严重组合,包括,腹部和/或胸椎裂,脑外/脑膨出,肢体畸形,和面部裂痕。短脐带,腹部胎盘附着,脊柱异常是这种疾病的其他表现。LBWC的原因仍然未知。主要假设包括胚胎发育不良,早期羊膜破裂,和胚胎发育期间的血管意外。我们介绍了一例LBWC,该例是在产前超声(USG)成像中检测到的,后来在14周龄的Rh阴性母亲中在产后证实。
    Limb body wall complex (LBWC), also known as body stalk anomaly, is a rare and lethal disorder of the anterior abdominal wall. It is characterized by a severe combination of congenital malformations in the fetus, including, abdomino- and/or thoracoschisis, exencephaly/encephalocele, limb deformities, and facial clefts. Short umbilical cord, abdominal placental attachment, and spinal anomalies are among other manifestations of this disorder. The cause of LBWC is still unknown. The main hypotheses include embryonic dysplasia, early amniotic rupture, and vascular accident during embryonic development. We present a case of LBWC that was detected prenatally on ultrasound (USG) imaging and later confirmed postnatally in a Rh-negative mother at the menstrual age of 14 weeks.
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  • 文章类型: Journal Article
    背景:对于胃裂婴儿的初始治疗尚无共识。
    方法:美国儿科外科协会(APSA)成果和循证实践委员会(OEBPC)提出了三个关于胃裂的先验问题,以进行定性系统评价。我们审查了1970年1月1日至2019年12月31日之间的英语出版物。本项目描述了对以下三个问题进行系统审查的结果:1)最佳交付时间,2)抗生素使用,和3)关闭考虑。
    结果:对1339篇文章进行了资格筛选;选择和审查了92篇手稿。纳入的研究的证据水平为2至4级,建议为B-D级。二十八个解决了最佳交付时间,5与抗生素使用有关,和59讨论了闭包注意事项(图1)。概念年龄后37周后的分娩被认为是最佳的。覆盖皮肤菌群的预防性抗生素足以降低感染风险,直到最终关闭。研究支持原发性筋膜修复,没有分阶段的筒仓减少,当腹部和血流动力学允许时。不小心修理是安全的,有效,并且不会延迟进食或延长逗留时间。无缝合闭合通常不需要镇静和插管。
    结论:尽管有大量研究涉及上述胃裂管理方面,数据质量差。记录了腹裂管理的广泛差异,这表明在照顾这些婴儿时需要高质量的随机对照试验以提供循证方法。
    方法:1-4级研究的定性系统评价。
    BACKGROUND: No consensus exists for the initial management of infants with gastroschisis.
    METHODS: The American Pediatric Surgical Association (APSA) Outcomes and Evidenced-based Practice Committee (OEBPC) developed three a priori questions about gastroschisis for a qualitative systematic review. We reviewed English-language publications between January 1, 1970, and December 31, 2019. This project describes the findings of a systematic review of the three questions regarding: 1) optimal delivery timing, 2) antibiotic use, and 3) closure considerations.
    RESULTS: 1339 articles were screened for eligibility; 92 manuscripts were selected and reviewed. The included studies had a Level of Evidence that ranged from 2 to 4 and recommendation Grades B-D. Twenty-eight addressed optimal timing of delivery, 5 pertained to antibiotic use, and 59 discussed closure considerations (Figure 1). Delivery after 37 weeks post-conceptual age is considered optimal. Prophylactic antibiotics covering skin flora are adequate to reduce infection risk until definitive closure. Studies support primary fascial repair, without staged silo reduction, when abdominal domain and hemodynamics permit. A sutureless repair is safe, effective, and does not delay feeding or extend length of stay. Sedation and intubation are not routinely required for a sutureless closure.
    CONCLUSIONS: Despite the large number of studies addressing the above-mentioned facets of gastroschisis management, the data quality is poor. A wide variation in gastroschisis management was documented, indicating a need for high quality RCTs to provide an evidence-based approach when caring for these infants.
    METHODS: Qualitative systematic review of Level 1-4 studies.
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  • 文章类型: Case Reports
    Baraitser-Winter脑额面部综合征(BWCFF)是一种可变的多发性先天性异常情况,通常在出生后出现神经认知延迟,独特的面部特征,大脑皮层畸形,在某些情况下,各种额外的先天性畸形。然而,只有少数病例报告了这种综合征的产前表现。这里,我们报告了2例BWCFF及其相关的产前发现。一例出现非免疫性胎儿水肿和马蹄肾,发现ACTB中具有从头杂合变体(c.158A>G)。第二个病例表现为腹裂,双侧唇腭裂,和羊水过少,并被发现在ACTB中含有不同的从头变体(c.826G>A)。有限的报告描述了产前确定的异常,包括胎儿生长受限,颈部褶皱增加,双侧肾积水,摇杆底脚,talipes,囊性水瘤,脐膨出,和胎儿水肿。此外,这些病例中只有3例纳入了详细的产前影像学检查结果.这里介绍的两个产前病例表明BWCFF的产前表型扩展到包括腹裂,淋巴受累,和羊水过少,每个人都应该在其他异常情况下考虑这种诊断。
    Baraitser-Winter cerebrofrontofacial syndrome (BWCFF) is a variable multiple congenital anomaly condition, typically presenting postnatally with neurocognitive delays, distinctive facial features, cortical brain malformations, and in some, a variety of additional congenital malformations. However, only a few cases have reported the prenatal presentation of this syndrome. Here, we report two cases of BWCFF and their associated prenatal findings. One case presented with non-immune hydrops fetalis and a horseshoe kidney and was found to have a de novo heterozygous variant in ACTB (c.158A>G). The second case presented with gastroschisis, bilateral cleft lip and palate, and oligohydramnios, and was found to harbor a different de novo variant in ACTB (c.826G>A). Limited reports exist describing prenatally identified anomalies that include fetal growth restriction, increased nuchal fold, bilateral hydronephrosis, rocker bottom foot, talipes, cystic hygroma, omphalocele, and hydrops fetalis. In addition, only three of these cases have included detailed prenatal imaging findings. The two prenatal cases presented here demonstrate an expansion of the prenatal phenotype of BWCFF to include gastroschisis, lymphatic involvement, and oligohydramnios, which should each warrant consideration of this diagnosis in the setting of additional anomalies.
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  • 文章类型: Journal Article
    目的:有几个病例报告描述了视神经发育不全/视垂体发育不良(ONH/SOD)和胃裂(GS)的患者。我们的目的是调查ONH/SOD是否与GS相关。
    方法:使用曼尼托巴省卫生政策中心的人口研究数据存储库进行了一项基于人群的回顾性研究。加拿大调查是否有ONH/SOD患者也有GS。此外,温尼伯的结果和管理外科数据库(WiSDOM),基于医院的儿科外科数据库,进行搜索,以确定是否有任何GS患者也有ONH/SOD。
    结果:病例为1990-2019年诊断为ONH/SOD的124例患者。没有GS。手术数据库在1991-2019年期间有188名来自曼尼托巴省的GS患者。无ONH/SOD。
    结论:在我们的ONH/SOD和GS这两种疾病的患者队列中,似乎没有相关性。
    OBJECTIVE: There are several case reports describing patients with both optic nerve hypoplasia/septo-optic-pituitary dysplasia (ONH/SOD) and gastroschisis (GS). Our aim was to investigate whether ONH/SOD is associated with GS.
    METHODS: A retrospective population-based study was undertaken using the Population Research Data Repository at the Manitoba Center for Health Policy in Manitoba, Canada to investigate if any patient with ONH/SOD also had GS. In addition, Winnipeg\'s Surgical Database of Outcomes and Management (WiSDOM), a hospital-based paediatric surgical database, was searched to ascertain if any of the patients with GS also have ONH/SOD.
    RESULTS: Cases were 124 patients with ONH/SOD diagnosed during 1990-2019. None had GS. The surgical database had 188 patients from Manitoba with GS during 1991-2019. None had ONH/SOD.
    CONCLUSIONS: There does not appear to be an association between ONH/SOD and GS in our cohorts of patients with these two disorders.
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  • 文章类型: Journal Article
    目的:在波哥大的八家医院中,确定与产前诊断为胃裂的新生儿预后不良相关的因素。哥伦比亚,从2011年到2022年。
    方法:在波哥大的八家医院对患有腹裂的新生儿进行了多中心回顾性病例对照研究,哥伦比亚。不良预后定义为存在脓毒症,肠道并发症,或死亡。
    结果:该研究包括101名患者。32周以下早产儿新生儿预后不良(OR6.7895%CI0.75-319)。羊水过少(OR4.9595%CI1.15-21.32)和筒仓分阶段关闭(OR3.48;95%CI1.10-10.96)是新生儿死亡的危险因素,腹内肠扩张20-25mm是肠道并发症发生的一个因素(OR3.2295%CI1.26-8.23)。
    结论:腹内肠扩张20-25mm与肠道并发症有关,虽然羊水过少与围产期死亡的风险有关,需要加强胎儿健康的产前监测。建议在这些婴儿中在技术上可行时进行初级减少的管理,考虑到使用筒仓与较高的死亡率相关.
    OBJECTIVE: To identify factors associated with poor prognoses in newborns with a prenatal diagnosis of gastroschisis in eight hospitals in Bogota, Colombia, from 2011 to 2022.
    METHODS: A multi-center retrospective case-control study was conducted on newborns with gastroschisis in eight hospitals in Bogota, Colombia. Poor prognosis was defined as the presence of sepsis, intestinal complications, or death.
    RESULTS: The study included 101 patients. Preterm newborns under 32 weeks had a poor neonatal prognosis (OR 6.78 95 % CI 0.75-319). Oligohydramnios (OR 4.95 95 % CI 1.15-21.32) and staged closure with silo (OR 3.48; 95 % CI 1.10-10.96) were risk factors for neonatal death, and intra-abdominal bowel dilation of 20-25 mm was a factor for the development of intestinal complications (OR 3.22 95 % CI 1.26-8.23).
    CONCLUSIONS: Intra-abdominal bowel dilation between 20 and 25 mm was associated with intestinal complications, while oligohydramnios was associated with the risk of perinatal death, requiring increased antenatal surveillance of fetal wellbeing. Management with primary reduction when technically feasible is recommended in these infants, considering that the use of silos was associated with higher mortality.
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  • 文章类型: Journal Article
    腹裂的发生率,涉及通过腹壁的小肠疝的出生缺陷,自20世纪60年代以来,美国的情况有所增加。农药阿特拉津是腹裂的假设原因;然而,对阿特拉津和腹裂之间的关联的检查有限。
    为了评估全国腹裂发病率的趋势,与腹裂相关的母婴特征,以及县级使用阿特拉津是否与腹裂有关。
    这次回顾展,重复的横断面研究检查了2009年1月1日至2019年12月31日美国地质调查局所有活产的出生证明数据和阿特拉津使用数据.数据分析是在2021年8月5日至2023年5月26日之间进行的。
    县级使用阿特拉津。
    主要结局是腹裂发生率。协变量包括产妇年龄,种族和民族,身体质量指数(以千克为单位的体重除以以米为单位的身高的平方来衡量),奇偶校验,保险类型,怀孕期间衣原体感染,吸烟,和乡村。使用不同的县级阿特拉津暴露变量(1-,5-,和10年意味着)。
    在2009年至2019年之间,确定了39282566例活产,10527例婴儿诊断为腹裂。患有腹裂的婴儿更有可能拥有非西班牙裔白人的母亲(61%vs54%;P<.001),体重指数较低(中位数[IQR],23.4[20.8-27.2]vs25.4[22.0-30.8];P<.001),更有可能是未产的(中位数[IQR],0[0-1]对1[0-2];P<.001),更常见的是医疗补助(63%vs43%;P<.001)。在学习期间,腹裂的发生率(每1000例活产)从0.31(95%CI,0.29-0.33)降至0.22(95%CI,0.21-0.24)。中位(IQR)县级阿特拉津使用估计值在腹裂婴儿中更高(1岁,1389[IQR,198-10162]vs1023[IQR,167-6960]千克;5年,1425[IQR,273-9895]vs1057[IQR,199-6926]千克;10年,1508[IQR,286-10271]vs1113[IQR,200-6650]kg;P<.001)。在调整后的模型中,阿特拉津的县级水平较高(每增加100000公斤)与腹裂的发病率较高相关(1年:调整后的比值比[AOR],1.12[95%CI,1.01-1.24];5年:AOR,1.15[95%CI,1.02-1.30];10年:AOR,1.21[95%CI,1.07-1.38])。
    在这项横断面研究中,县级水平较高的阿特拉津与婴儿腹裂的诊断相关。虽然阿特拉津是美国第二常用的除草剂,出于对人类健康的不利影响,世界上许多国家都禁止了它。这些发现表明,在美国探索阿特拉津的替代品可能是有必要的。
    UNASSIGNED: The incidence of gastroschisis, a birth defect involving the herniation of the small bowel through the abdominal wall, has increased in the US since the 1960s. The pesticide atrazine is a hypothesized cause of gastroschisis; however, examination of the association between atrazine and gastroschisis has been limited.
    UNASSIGNED: To evaluate national trends in gastroschisis incidence, maternal and infant characteristics associated with gastroschisis, and whether county-level atrazine use is associated with gastroschisis.
    UNASSIGNED: This retrospective, repeated cross-sectional study examined birth certificate data of all live births in the US and data on atrazine use from the US Geological Survey from January 1, 2009, through December 31, 2019. The data analysis was performed between August 5, 2021, and May 26, 2023.
    UNASSIGNED: County-level atrazine use.
    UNASSIGNED: The primary outcome was gastroschisis incidence. Covariates included maternal age, race and ethnicity, body mass index (measured by weight in kilograms divided by height in meters squared), parity, insurance type, Chlamydia infection during pregnancy, smoking, and rurality. Mixed-effects logistic regression models (year fixed effects and county random effects) were constructed using different county-level atrazine exposure variables (1-, 5-, and 10-year means).
    UNASSIGNED: Between 2009 and 2019, 39 282 566 live births were identified, with 10 527 infant diagnoses of gastroschisis. Infants with gastroschisis were more likely to have mothers who identified as non-Hispanic White (61% vs 54%; P < .001), had a lower body mass index (median [IQR], 23.4 [20.8-27.2] vs 25.4 [22.0-30.8]; P < .001), were more likely to be nulliparous (median [IQR], 0 [0-1] vs 1 [0-2]; P < .001), and were more commonly covered by Medicaid (63% vs 43%; P < .001). During the study period, the rate (per 1000 live births) of gastroschisis decreased from 0.31 (95% CI, 0.29-0.33) to 0.22 (95% CI, 0.21-0.24). The median (IQR) county-level atrazine use estimates were higher among infants with gastroschisis (1 year, 1389 [IQR, 198-10 162] vs 1023 [IQR, 167-6960] kg; 5 years, 1425 [IQR, 273-9895] vs 1057 [IQR, 199-6926] kg; 10 years, 1508 [IQR, 286-10 271] vs 1113 [IQR, 200-6650] kg; P < .001). In adjusted models, higher county levels of atrazine (each 100 000-kg increase) were associated with a higher incidence of gastroschisis (1 year: adjusted odds ratio [AOR], 1.12 [95% CI, 1.01-1.24]; 5 years: AOR, 1.15 [95% CI, 1.02-1.30]; 10 years: AOR, 1.21 [95% CI, 1.07-1.38]).
    UNASSIGNED: In this cross-sectional study, higher county levels of atrazine were associated with infant diagnoses of gastroschisis. While atrazine is the second-most used herbicide in the US, numerous countries around the world have banned it out of concern for adverse effects on human health. These findings suggest that exploring alternatives to atrazine in the US may be warranted.
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