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胎儿面部裂隙的产前超声成像:图文综述

Prenatal Ultrasound Imaging of Orofacial Clefts: A Pictorial Essay.

作者信息

Yang Tze-Yi, Chang Tung-Yao

机构信息

Department of Fetal Medicine, Taiji Clinic, Taipei, Taiwan.

出版信息

J Med Ultrasound. 2024 Mar 21;32(1):8-13. doi: 10.4103/jmu.jmu_123_23. eCollection 2024 Jan-Mar.

DOI:10.4103/jmu.jmu_123_23
PMID:38665338
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11040495/
Abstract

Orofacial clefts (OFCs), including cleft lip (CL), cleft palate (CP), and CL with palate (CL/P), are relatively common congenital birth defects occurring in approximately 1 in 500 to 1 in 2500 live births. Detecting OFCs during prenatal ultrasound screening is crucial for informed decision-making and multidisciplinary medical care. This review provides a practical guide for routine and advanced screening for OFCs during mid-pregnancy. The Maarse classification system facilitates effective communication among the multidisciplinary team, categorizing OFCs into five types. Basic ultrasound views encompass coronal, sagittal, and axial imaging of the face and hard palate. Additional visualization techniques are employed in case of suspected anomalies during the initial screening. Advanced ultrasound views provided by the expert in prenatal OFC diagnosis include imaging of the posterior edge of the hard palate and the posterior part of the soft palate. Detected OFCs exhibit a range of severity and affect different structures, underscoring the importance of accurate detection and classification for appropriate treatment planning. Implementing a standardized screening protocol for OFCs is essential. By enhancing detection rates and enabling early diagnosis, prenatal ultrasound screening contributes to improved patient outcomes and facilitates timely intervention by the multidisciplinary team. In conclusion, this review emphasizes the significance of standardized protocols and specialized techniques for prenatal ultrasound screening of OFCs. Early detection and classification of these malformations play a vital role in comprehensive management, ensuring that affected individuals and their families receive the appropriate care and support they need.

摘要

口腔颌面部裂隙(OFCs),包括唇裂(CL)、腭裂(CP)和唇腭裂(CL/P),是相对常见的先天性出生缺陷,在每500至2500例活产中约有1例发生。在产前超声筛查期间检测OFCs对于做出明智的决策和多学科医疗护理至关重要。本综述为孕中期OFCs的常规和高级筛查提供了实用指南。马尔塞分类系统有助于多学科团队之间的有效沟通,将OFCs分为五种类型。基本超声视图包括面部和硬腭的冠状、矢状和轴位成像。在初次筛查期间若怀疑有异常,则采用额外的可视化技术。产前OFC诊断专家提供的高级超声视图包括硬腭后缘和软腭后部的成像。检测到的OFCs表现出一系列严重程度,并影响不同结构,这突出了准确检测和分类对于适当治疗计划的重要性。实施标准化的OFCs筛查方案至关重要。通过提高检测率并实现早期诊断,产前超声筛查有助于改善患者预后,并促进多学科团队的及时干预。总之,本综述强调了标准化方案和专门技术在产前超声筛查OFCs中的重要性。这些畸形的早期检测和分类在综合管理中起着至关重要的作用,确保受影响的个体及其家庭获得他们所需的适当护理和支持。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2331/11040495/5efaf7f31627/JMU-32-8-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2331/11040495/81b9e3cae27e/JMU-32-8-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2331/11040495/5efaf7f31627/JMU-32-8-g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2331/11040495/81b9e3cae27e/JMU-32-8-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/2331/11040495/5efaf7f31627/JMU-32-8-g005.jpg

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本文引用的文献

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Novel approach to distinguish submucous cleft palate from isolated cleft palate by ultrasound visualization of fetal swallowing.通过超声可视化胎儿吞咽来区分黏膜下腭裂与孤立性腭裂的新方法。
Ultrasound Obstet Gynecol. 2023 Oct;62(4):603-605. doi: 10.1002/uog.26217.
2
ISUOG Practice Guidelines (updated): performance of the routine mid-trimester fetal ultrasound scan.国际妇产科超声学会(ISUOG)实践指南(更新版):孕中期常规胎儿超声检查的实施
Ultrasound Obstet Gynecol. 2022 Jun;59(6):840-856. doi: 10.1002/uog.24888. Epub 2022 May 20.
3
Orofacial clefts embryology, classification, epidemiology, and genetics.
口面裂的胚胎学、分类、流行病学和遗传学。
Mutat Res Rev Mutat Res. 2021 Jan-Jun;787:108373. doi: 10.1016/j.mrrev.2021.108373. Epub 2021 Feb 28.
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Multidisciplinary team approach to the prenatal management of orofacial clefts: a single center cohort study in Taiwan.多学科团队方法在口腔面裂的产前管理中的应用:台湾单中心队列研究。
Sci Rep. 2020 Aug 18;10(1):13916. doi: 10.1038/s41598-020-70906-1.
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Prenatal ultrasound diagnosis of cleft palate without cleft lip, the new ultrasound semiology.产前超声诊断无唇腭裂腭裂,新的超声征象。
Prenat Diagn. 2020 Oct;40(11):1447-1458. doi: 10.1002/pd.5794. Epub 2020 Aug 17.
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The prenatal diagnosis and classification of cleft palate: the role and value of magnetic resonance imaging.腭裂的产前诊断与分类:磁共振成像的作用与价值。
Eur Radiol. 2019 Oct;29(10):5600-5606. doi: 10.1007/s00330-019-06089-9. Epub 2019 Mar 18.
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A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.一项多民族全基因组关联研究确定了2p24.2、17q23和19q13上非综合征性唇裂伴或不伴腭裂的新基因座。
Hum Mol Genet. 2016 Jul 1;25(13):2862-2872. doi: 10.1093/hmg/ddw104. Epub 2016 Mar 30.
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