先天性食管旁疝伴胃扭转及产后FBN1突变的产前诊断证实。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-02-24 DOI:10.1002/pd.6767
Spencer C Darveau, Georges Sylvestre, Sarah J Weingarten
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引用次数: 0

摘要

我们报告一例胎儿先天性食管旁疝(CPEH)与怀疑扭转和父亲马凡氏综合征(MFS)的历史。患者被一个多学科团队跟踪,并计划进行产后手术干预和基因检测。产后检查证实CPEH伴胃扭转,需要在出生第一天手术修复。新生儿遗传分析检测到与MFS相关的FBN1的父系遗传杂合致病变异。产前超声发现CPEH和扭转很少被报道为与胎儿MFS有关。这个病例强调了一种罕见的关联以及积极计划和早期手术干预的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Prenatal Diagnosis of Congenital Paraesophageal Hernia With Gastric Volvulus and Postnatal FBN1 Mutation Confirmation.

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.

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来源期刊
Prenatal Diagnosis
Prenatal Diagnosis 医学-妇产科学
CiteScore
5.80
自引率
13.30%
发文量
204
审稿时长
2 months
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
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