Spencer C Darveau, Georges Sylvestre, Sarah J Weingarten
{"title":"Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation.","authors":"Spencer C Darveau, Georges Sylvestre, Sarah J Weingarten","doi":"10.1002/pd.6767","DOIUrl":null,"url":null,"abstract":"<p><p>We report a case of a fetus with a congenital paraesophageal hernia (CPEH) with suspected volvulus and a paternal history of Marfan syndrome (MFS). The patient was followed by a multidisciplinary team with plans for postnatal surgical intervention and genetic testing. Postnatal examination confirmed CPEH with gastric volvulus, requiring surgical repair on the first day of life. Neonatal genetic analysis detected a paternally inherited heterozygous pathogenic variant in FBN1, associated with MFS. Prenatal ultrasound findings of CPEH and volvulus have seldom been reported as associations with fetal MFS. This case highlights a rare association and the importance of proactive planning and early surgical intervention.</p>","PeriodicalId":20387,"journal":{"name":"Prenatal Diagnosis","volume":" ","pages":""},"PeriodicalIF":2.7000,"publicationDate":"2025-02-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Prenatal Diagnosis","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1002/pd.6767","RegionNum":2,"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
We report a case of a fetus with a congenital paraesophageal hernia (CPEH) with suspected volvulus and a paternal history of Marfan syndrome (MFS). The patient was followed by a multidisciplinary team with plans for postnatal surgical intervention and genetic testing. Postnatal examination confirmed CPEH with gastric volvulus, requiring surgical repair on the first day of life. Neonatal genetic analysis detected a paternally inherited heterozygous pathogenic variant in FBN1, associated with MFS. Prenatal ultrasound findings of CPEH and volvulus have seldom been reported as associations with fetal MFS. This case highlights a rare association and the importance of proactive planning and early surgical intervention.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
