{"title":"伴有产前体征的先天性巨结肠疾病：病例报告及文献回顾。","authors":"C Marchetto, G Bracalente, P Midrio","doi":"10.1080/15513815.2025.2476459","DOIUrl":null,"url":null,"abstract":"<p><p><b>Introduction:</b> Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. <b>Methods:</b> A systematic and manual search of the literature using the keywords \"prenatal diagnosis, meconium peritonitis, Hirschsprung disease\" was conducted on PUBMED, Scopus, and SCIE (Web of Science). <b>Results:</b> Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. <b>Conclusion:</b> The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"1-8"},"PeriodicalIF":0.7000,"publicationDate":"2025-03-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature.\",\"authors\":\"C Marchetto, G Bracalente, P Midrio\",\"doi\":\"10.1080/15513815.2025.2476459\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><p><b>Introduction:</b> Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. <b>Methods:</b> A systematic and manual search of the literature using the keywords \\\"prenatal diagnosis, meconium peritonitis, Hirschsprung disease\\\" was conducted on PUBMED, Scopus, and SCIE (Web of Science). <b>Results:</b> Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. <b>Conclusion:</b> The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"1-8\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2025-03-20\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2025.2476459\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2025.2476459","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
Hirschsprung Disease with Prenatal Signs: Case Report and Review of the Literature.
Introduction: Hirschsprung's disease (HD) is diagnosed postnatally, mainly by means of a rectal biopsy. During pregnancy a few signs have been scattered reported that, in retrospect, where suggestive for HD. The aim of the study was to provide a review of the literature on prenatal signs, with a new case. Methods: A systematic and manual search of the literature using the keywords "prenatal diagnosis, meconium peritonitis, Hirschsprung disease" was conducted on PUBMED, Scopus, and SCIE (Web of Science). Results: Following the PRISMA guidelines, 8 articles were retrieved that describe a total of 11 cases of prenatal signs suggestive of HD. The case of a fetus with meconium peritonitis and hereditary trigonocephaly is reported. Conclusion: The literature is very scanty on prenatal signs or symptoms suggestive for HD. The association of HD and craniostenosis has been previously reported, but the present case is unique due to the concurrent presence of meconium peritonitis and hereditary trigonocephaly.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
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