胎儿内源性气道阻塞(CHAOS)的评估:超声、胎镜和病理结果的相关性。

IF 2.7 2区 医学 Q2 GENETICS & HEREDITY
Prenatal Diagnosis Pub Date : 2025-03-01 Epub Date: 2025-02-16 DOI:10.1002/pd.6761
Claire Laporte, Jéléna Martinovic, Sophie Patrier, Briac Thierry, Imen Mediouni, Julien Saada, Marie Brasseur-Daudruy, Martin Etienne, Grégoire Dumery, Alexandra Benachi
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引用次数: 0

摘要

目的:探讨疑似先天性高气道阻塞综合征(CHAOS)患者的超声表现与胎儿镜检查及病理资料的相关性,以提高产前诊断和治疗水平。方法:连续5例疑似混沌患者。进行产前超声检查以确定关键特征,如双侧高回声肺、膈外翻和可见气道。对3例患者进行了胎儿镜检查,以评估声带和上呼吸道。病理分析也证实了诊断。结果:5例患者均表现为双侧高回声肺,膈外翻,超声可见气道。所有病例均见梗阻,3例未见声带,1例声带异常,1例未提及声带。胎儿镜检查证实3例患者声带融合或缺失及完全性喉闭锁。所有怀孕都被终止;因此,胎儿镜中期并发症无法评估。结论:准确的产前超声成像对诊断混沌和判断预后至关重要。虽然超声是评估病情和指导治疗的一线检查,但只有在超声结果不确定时才应建议进行胎儿镜检查。胎儿镜的诊断和治疗价值仅限于声带不可见和喉梗阻的病例。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Evaluation of Intrinsic Fetal Airway Obstruction (CHAOS): Correlations Between Ultrasound, Fetoscopic, and Pathological Findings.

Objective: To correlate ultrasound findings with fetoscopy and pathology data in patients with suspected congenital high airway obstruction syndrome (CHAOS) to improve prenatal diagnosis and management.

Method: This study included five consecutive patients suspected of having CHAOS. Prenatal ultrasound was performed to identify key features such as bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways. Fetoscopy was conducted in three patients to assess the vocal cords and upper airways. Pathological analysis was also used to confirm the diagnosis.

Results: All five patients showed bilateral hyperechoic lungs, eversion of the diaphragm, and visible airways on ultrasound. An obstructive block was seen in all cases and the vocal cords were not visualized in three cases, abnormal in one case and not mentioned in one case. Fetoscopy confirmed vocal cord fusion or absence and complete laryngeal atresia in three patients. All pregnancies were terminated; therefore, medium-term complications of fetoscopy could not be assessed.

Conclusion: Accurate prenatal ultrasound imaging is essential for diagnosing CHAOS and determining prognosis. While ultrasound is the first-line test to assess the condition and guide management, fetoscopy should only be proposed when ultrasound findings are inconclusive. The diagnostic and therapeutic value of fetoscopy is limited to cases with nonvisible vocal cords and obstructive laryngeal block.

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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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