Does assisted reproductive technology influence the complexity and associated malformations in esophageal atresia?

IF 2.7 3区医学 Q2 GENETICS & HEREDITY

Journal of Assisted Reproduction and Genetics Pub Date : 2025-09-11 DOI:10.1007/s10815-025-03624-0

Federica Pederiva, Nigel Hall, Tuktu Soyer, Francesco Morini

{"title":"Does assisted reproductive technology influence the complexity and associated malformations in esophageal atresia?","authors":"Federica Pederiva, Nigel Hall, Tuktu Soyer, Francesco Morini","doi":"10.1007/s10815-025-03624-0","DOIUrl":null,"url":null,"abstract":"Purpose: Assisted reproductive technology (ART) has been associated with increased risks of congenital anomalies and preterm birth. However, its role in influencing the complexity of specific malformations, such as esophageal atresia (EA), remains unclear. This study aimed to assess whether ART impacts the phenotypic complexity of EA, including associated anomalies and VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies) association.Methods: Data from 374 EA patients enrolled in the European Pediatric Surgeons' Association (EUPSA) Esophageal Atresia Registry were analyzed. Patients were grouped based on mode of conception (28 ART and 346 natural conception) and compared for demographics, gestational age, birth weight, associated malformations, VACTERL association, and genetic disorders.Results: Gestational age and birth weight were comparable between groups (36.5 ± 3.3 vs. 36.4 ± 3.3 weeks, p = 0.42; 2412.3 ± 761.6 g vs. 2601.3 ± 744.3 g, p = 0.24). Maternal age was significantly higher in the ART group. The prevalence of cardiac, gastrointestinal, renal, musculoskeletal, and vertebral anomalies did not differ significantly. All cardiac anomalies in ART patients were minor. VACTERL association rates (25.0% vs. 18.5%, p = 0.398) and genetic disorder prevalence (7.1% vs. 4.9%, p = 0.605) were comparable.Conclusions: ART does not appear to increase the complexity of EA in terms of associated malformations, VACTERL spectrum disorders, or genetic abnormalities. Further studies with larger cohorts and detailed ART subtype data are warranted to confirm these findings.","PeriodicalId":15246,"journal":{"name":"Journal of Assisted Reproduction and Genetics","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-09-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Assisted Reproduction and Genetics","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s10815-025-03624-0","RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q2","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}

引用次数: 0

Abstract

Purpose: Assisted reproductive technology (ART) has been associated with increased risks of congenital anomalies and preterm birth. However, its role in influencing the complexity of specific malformations, such as esophageal atresia (EA), remains unclear. This study aimed to assess whether ART impacts the phenotypic complexity of EA, including associated anomalies and VACTERL (vertebral, anal, cardiac, tracheoesophageal, renal, and limb anomalies) association.

Methods: Data from 374 EA patients enrolled in the European Pediatric Surgeons' Association (EUPSA) Esophageal Atresia Registry were analyzed. Patients were grouped based on mode of conception (28 ART and 346 natural conception) and compared for demographics, gestational age, birth weight, associated malformations, VACTERL association, and genetic disorders.

Results: Gestational age and birth weight were comparable between groups (36.5 ± 3.3 vs. 36.4 ± 3.3 weeks, p = 0.42; 2412.3 ± 761.6 g vs. 2601.3 ± 744.3 g, p = 0.24). Maternal age was significantly higher in the ART group. The prevalence of cardiac, gastrointestinal, renal, musculoskeletal, and vertebral anomalies did not differ significantly. All cardiac anomalies in ART patients were minor. VACTERL association rates (25.0% vs. 18.5%, p = 0.398) and genetic disorder prevalence (7.1% vs. 4.9%, p = 0.605) were comparable.

Conclusions: ART does not appear to increase the complexity of EA in terms of associated malformations, VACTERL spectrum disorders, or genetic abnormalities. Further studies with larger cohorts and detailed ART subtype data are warranted to confirm these findings.

查看原文本刊更多论文

辅助生殖技术是否影响食道闭锁的复杂性及相关畸形？

目的：辅助生殖技术（ART）与先天性畸形和早产的风险增加有关。然而，其在影响特定畸形（如食管闭锁（EA））复杂性中的作用尚不清楚。本研究旨在评估ART是否影响EA的表型复杂性，包括相关异常和VACTERL（椎体、肛门、心脏、气管、食管、肾脏和肢体异常）关联。方法：对欧洲儿科外科医生协会（EUPSA）食管闭锁登记的374例EA患者的数据进行分析。根据受孕方式对患者进行分组（28例ART受孕和346例自然受孕），并比较人口统计学、胎龄、出生体重、相关畸形、VACTERL关联和遗传疾病。结果：两组间胎龄、出生体重具有可比性（36.5±3.3周∶36.4±3.3周，p = 0.42; 2412.3±761.6 g∶2601.3±744.3 g, p = 0.24）。ART组产妇年龄明显增高。心脏、胃肠、肾脏、肌肉骨骼和椎体异常的患病率没有显著差异。所有ART患者的心脏异常都是轻微的。VACTERL相关率（25.0% vs. 18.5%, p = 0.398）和遗传疾病患病率（7.1% vs. 4.9%, p = 0.605）具有可比性。结论：就相关畸形、VACTERL谱系障碍或遗传异常而言，ART似乎并未增加EA的复杂性。进一步的研究需要更大的队列和详细的ART亚型数据来证实这些发现。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

求助全文

约1分钟内获得全文求助全文

来源期刊

Journal of Assisted Reproduction and Genetics 医学-妇产科学

CiteScore

5.70

自引率

9.70%

发文量

286

审稿时长

1 months

期刊介绍： The Journal of Assisted Reproduction and Genetics publishes cellular, molecular, genetic, and epigenetic discoveries advancing our understanding of the biology and underlying mechanisms from gametogenesis to offspring health. Special emphasis is placed on the practice and evolution of assisted reproduction technologies (ARTs) with reference to the diagnosis and management of diseases affecting fertility. Our goal is to educate our readership in the translation of basic and clinical discoveries made from human or relevant animal models to the safe and efficacious practice of human ARTs. The scientific rigor and ethical standards embraced by the JARG editorial team ensures a broad international base of expertise guiding the marriage of contemporary clinical research paradigms with basic science discovery. JARG publishes original papers, minireviews, case reports, and opinion pieces often combined into special topic issues that will educate clinicians and scientists with interests in the mechanisms of human development that bear on the treatment of infertility and emerging innovations in human ARTs. The guiding principles of male and female reproductive health impacting pre- and post-conceptional viability and developmental potential are emphasized within the purview of human reproductive health in current and future generations of our species. The journal is published in cooperation with the American Society for Reproductive Medicine, an organization of more than 8,000 physicians, researchers, nurses, technicians and other professionals dedicated to advancing knowledge and expertise in reproductive biology.