• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

先天性高位气道梗阻综合征中气管发育不全的产前诊断和结局。病例报告和文献复习。

Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review.

机构信息

Department of Obstetrics and Gynecology, "Alessandrescu-Rusescu" National Institute of Mother and Child Care, 050474 Bucharest, Romania.

Department of Obstetrics and Gynecology, "Carol Davila" University of Medicine and Pharmacy, 050474 Bucharest, Romania.

出版信息

Medicina (Kaunas). 2021 Nov 16;57(11):1253. doi: 10.3390/medicina57111253.

DOI:10.3390/medicina57111253
PMID:34833471
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8619531/
Abstract

Tracheal atresia is an extremely rare condition whereby a partial or total obstruction of the trachea is seen. It is almost always lethal, with just a handful of cases that ended with a good outcome. In this study we report on a 15-week male fetus, diagnosed with hyperechogenic lungs, midline heart position and inverted diaphragm. Sonographic findings suggest congenital High Airway Obstruction Syndrome (CHAOS) An ultrasound scan and fetal MRI were not able to point out the exact obstruction level. In spite of extensive counselling, the parents opted to carry on with the pregnancy. Fetal demise was noted on a scan at 19 weeks gestation. After the elective termination of pregnancy, a post-mortem examination showed partial tracheal atresia with no other anomalies. Despite technological progress in CHAOS syndrome, a precise diagnosis and accurate prognosis remain elusive.

摘要

气管闭锁是一种极其罕见的情况,可见部分或完全的气管阻塞。它几乎总是致命的,只有少数病例有良好的结局。在本研究中,我们报告了一例 15 周的男性胎儿,超声检查提示肺部回声增强、心脏位于中线位置和膈肌倒置。超声检查结果提示先天性高位气道阻塞综合征(CHAOS)。超声和胎儿 MRI 均未能明确梗阻部位。尽管进行了广泛的咨询,父母仍选择继续妊娠。在妊娠 19 周的扫描中发现胎儿死亡。选择性终止妊娠后,尸检显示部分气管闭锁,无其他异常。尽管在 CHAOS 综合征方面取得了技术进步,但仍难以做出精确的诊断和准确的预后。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/0cc96e68f82a/medicina-57-01253-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/5e8af6698748/medicina-57-01253-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/cc85d6abf499/medicina-57-01253-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/0a6b4384e572/medicina-57-01253-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/94728e713a33/medicina-57-01253-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/a3420a3b7eca/medicina-57-01253-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/0cc96e68f82a/medicina-57-01253-g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/5e8af6698748/medicina-57-01253-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/cc85d6abf499/medicina-57-01253-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/0a6b4384e572/medicina-57-01253-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/94728e713a33/medicina-57-01253-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/a3420a3b7eca/medicina-57-01253-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a4ff/8619531/0cc96e68f82a/medicina-57-01253-g006.jpg

相似文献

1
Prenatal Diagnosis and Outcome of Tracheal Agenesis as Part of Congenital High Airway Obstruction Syndrome. Case Presentation and Literature Review.先天性高位气道梗阻综合征中气管发育不全的产前诊断和结局。病例报告和文献复习。
Medicina (Kaunas). 2021 Nov 16;57(11):1253. doi: 10.3390/medicina57111253.
2
Congenital high airway obstruction syndrome.先天性高位气道梗阻综合征
Neuro Endocrinol Lett. 2011;32(5):623-6.
3
Prenatal diagnosis of congenital high airway obstruction syndrome (CHAOS). Five case report.先天性高气道梗阻综合征(CHAOS)的产前诊断。五例报告。
Med Ultrason. 2015 Mar;17(1):115-8. doi: 10.11152/mu.2013.2066.171.haek.
4
Fetoscopy-Assisted Percutaneous Decompression of the Distal Trachea and Lungs Reverses Hydrops Fetalis and Fetal Distress in a Fetus with Laryngeal Atresia.羊膜镜辅助经皮气管和肺远端减压术逆转了先天性喉闭锁胎儿的羊水过多和胎儿窘迫。
Fetal Diagn Ther. 2019;46(1):75-80. doi: 10.1159/000500455. Epub 2019 Jun 25.
5
Unexpected tracheal agenesis with prenatal diagnosis of aortic coarctation, lung hyperecogenicity and polyhydramnios: a case report.产前诊断主动脉缩窄、肺强回声和羊水过多伴发的气管发育不良:病例报告。
Ital J Pediatr. 2020 Jul 10;46(1):96. doi: 10.1186/s13052-020-00861-0.
6
Locating the Level and Extent of Congenital High Airway Obstruction: Fluid in the Airway Tract as Reference Points.确定先天性高位气道梗阻的水平和范围:气道内液体作为参考点
J Ultrasound Med. 2017 Oct;36(10):2179-2185. doi: 10.1002/jum.14273. Epub 2017 Jun 6.
7
An antenatal diagnosis: Congenital high airway obstruction.产前诊断:先天性高位气道梗阻。
Ann Card Anaesth. 2017 Jul-Sep;20(3):335-336. doi: 10.4103/0971-9784.210407.
8
CHAOS: Prenatal imaging findings with post mortem contrast radiographic correlation.混沌:产前影像学检查结果与尸检造影X线检查结果的相关性
J Radiol Case Rep. 2016 Aug 31;10(8):39-49. doi: 10.3941/jrcr.v10i8.2692. eCollection 2016 Aug.
9
Congenital High Airway Obstruction Syndrome (CHAOS): A perinatal autopsy case report.先天性高气道梗阻综合征(CHAOS):一例围产期尸检病例报告。
Pathol Res Pract. 2017 Feb;213(2):170-175. doi: 10.1016/j.prp.2016.10.009. Epub 2016 Oct 26.
10
[CHAOS in neonatal emergency care? : Tracheal agenesis in the obstetric theatre].[新生儿急救护理中的混乱?:产科手术室中的气管闭锁]
Anaesthesist. 2016 Oct;65(10):763-767. doi: 10.1007/s00101-016-0220-1.

引用本文的文献

1
Diagnosis of fetal laryngotracheal atresia combined with tracheoesophageal fistula via prenatal ultrasound: a case description.产前超声诊断胎儿喉气管闭锁合并气管食管瘘:病例报告
Quant Imaging Med Surg. 2025 Sep 1;15(9):8751-8754. doi: 10.21037/qims-2025-394. Epub 2025 Aug 19.
2
Pediatric Congenital Lung Malformation: Advanced Imaging Techniques in Pre- and Neonatal Evaluation.小儿先天性肺发育异常:产前及新生儿评估中的先进影像技术
Diagnostics (Basel). 2025 Apr 27;15(9):1112. doi: 10.3390/diagnostics15091112.
3
Tracheal agenesis: the importance of teamwork in an uncommon pathology, challenging diagnosis, and high mortality-a case report.

本文引用的文献

1
Demonstration of holoprosencephaly, proboscis and cyclopia in fetus without aneuploidy, but high level of homozygosity.在无非整倍体但纯合性水平高的胎儿中显示全前脑畸形、鼻畸形和独眼畸形。
Prenat Diagn. 2021 Aug;41(9):1179-1180. doi: 10.1002/pd.6001.
2
Non-Invasive Prenatal Testing: Current Perspectives and Future Challenges.无创产前检测:当前观点与未来挑战
Genes (Basel). 2020 Dec 24;12(1):15. doi: 10.3390/genes12010015.
3
Perinatal outcome of fetuses with congenital high airway obstruction syndrome: a single-center experience.
气管闭锁:团队合作在一种罕见病理、诊断具有挑战性且死亡率高的疾病中的重要性——病例报告
Front Pediatr. 2024 Jul 11;12:1401729. doi: 10.3389/fped.2024.1401729. eCollection 2024.
先天性高气道梗阻综合征胎儿的围产期结局:单中心经验
Obstet Gynecol Sci. 2021 Jan;64(1):52-61. doi: 10.5468/ogs.20266. Epub 2020 Dec 7.
4
Diagnosis of major heart defects by routine first-trimester ultrasound examination: association with increased nuchal translucency, tricuspid regurgitation and abnormal flow in ductus venosus.通过常规孕早期超声检查诊断主要心脏缺陷:与颈项透明层增厚、三尖瓣反流和静脉导管血流异常有关。
Ultrasound Obstet Gynecol. 2020 May;55(5):637-644. doi: 10.1002/uog.21956.
5
First-trimester screening-biomarkers and cell-free DNA.早孕期筛查-生物标志物和游离 DNA。
J Matern Fetal Neonatal Med. 2021 Dec;34(23):3983-3989. doi: 10.1080/14767058.2019.1698031. Epub 2019 Dec 8.
6
TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands.TRIDENT-2:荷兰全国范围内实施全基因组非侵入性产前筛查作为一级筛查检测。
Am J Hum Genet. 2019 Dec 5;105(6):1091-1101. doi: 10.1016/j.ajhg.2019.10.005. Epub 2019 Nov 7.
7
Non-Invasive Prenatal Testing beyond Trisomies.非三体性疾病的无创产前检测
J Med Life. 2019 Jul-Sep;12(3):221-224. doi: 10.25122/jml-2019-0053.
8
Diagnosis of fetal non-chromosomal abnormalities on routine ultrasound examination at 11-13 weeks' gestation.在 11-13 孕周的常规超声检查中诊断胎儿非染色体异常。
Ultrasound Obstet Gynecol. 2019 Oct;54(4):468-476. doi: 10.1002/uog.20844.
9
Fetoscopy-Assisted Percutaneous Decompression of the Distal Trachea and Lungs Reverses Hydrops Fetalis and Fetal Distress in a Fetus with Laryngeal Atresia.羊膜镜辅助经皮气管和肺远端减压术逆转了先天性喉闭锁胎儿的羊水过多和胎儿窘迫。
Fetal Diagn Ther. 2019;46(1):75-80. doi: 10.1159/000500455. Epub 2019 Jun 25.
10
Chaos syndrome.混沌综合征
BJR Case Rep. 2017 Mar 14;3(3):20160046. doi: 10.1259/bjrcr.20160046. eCollection 2017.