Prenatal Diagnosis of a Case of Asyndromic Tessier Class-7 Bilateral Complete Transverse Facial Cleft: Case Report with Review of Literature

IF 0.1 Q4 OBSTETRICS & GYNECOLOGY
Seneesh Kumar Vikraman, Shasmita Yandamuri, Jay Desai
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引用次数: 0

Abstract

Transverse or lateral facial clefts are atypical and rare forms of facial clefts identified as Tessier type 7 in the classification system for orofacial clefts. They have an overall incidence of 1 in 60,000 to 300,000 live births. We report a case diagnosed at 22 weeks of gestation. The two-dimensional (2D) ultrasound examination revealed a single live fetus with a persistently open mouth, failure of visualization of lateral commissures, and mild retrognathia. The three-dimensional (3D) surface rendering of the fetal face demonstrated a bilateral horizontal facial cleft that extended from the lateral commissures to the ears. No additional anomalies were identified. Fetal karyotype and whole exome sequencing reports did not reveal any genomic imbalances. The case highlights the importance of 2D oblique and 3D imaging of the fetal face when subtle findings are detected in routine 2D views. A review of the literature is provided to enhance the understanding of the entity.
一例 Tessier Class-7 双侧完全横向面裂的产前诊断:病例报告与文献综述
横向或侧向面裂是一种非典型的罕见面裂,在口面部裂纹分类系统中被确定为泰西尔 7 型。它们的总体发病率为每 6 万至 30 万活产婴儿中就有 1 例。我们报告了一个在妊娠 22 周时确诊的病例。二维(2D)超声检查显示,单个活胎儿持续张口、侧颊突未见、轻度后腭。胎儿面部的三维(3D)表面渲染图显示,双侧水平面裂从侧颊突延伸至耳朵。未发现其他异常。胎儿核型和全外显子组测序报告未发现任何基因组失衡。该病例强调了在常规二维切面中发现细微发现时,对胎儿面部进行二维斜面和三维成像的重要性。文献综述有助于加深对这一实体的理解。
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来源期刊
Journal of Fetal Medicine
Journal of Fetal Medicine OBSTETRICS & GYNECOLOGY-
自引率
50.00%
发文量
26
期刊介绍: Journal of Fetal Medicine is the official journal of the Society of Fetal Medicine affiliated with International Society of Ultrasound in Obstetrics & Gynecology. This is a peer-reviewed international journal featuring articles with special interest to fetal medicine specialists, geneticists and ulstrasonologists. The aim of the journal is to communicate the results of original research in the field of fetal medicine. It includes a variety of articles suitable for clinicians and scientific specialists concerned with diagnosis and therapy of fetal disorders. All articles on health promotion of the fetus are acceptable for publication. The major focus is on highlighting the work that has been carried out in India and other developing countries. It also includes articles written by experts from the West. Types of articles published: - Original research articles related to fetal care and basic research - Review articles - Consensus guidelines for diagnosis and treatment - Case reports - Images in Fetal Medicine - Brief communications
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