血管系エラーズ・ダンロス症候群の産前診断のユニークなケース

Emma Bertucci¹, Sofia Ceffa², Sartor Giovanna³

¹Prenatal Medicine Unit, Obstetrics and Gynecology Unit, Department of Medical and Surgical Sciences for Mother, Child and Adult, University of Modena and Reggio Emilia, Modena, Italy.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics

|August 29, 2025

まとめ

この研究は,家族歴のない血管エラーズ-ダンロス症候群 (vEDS) の希少な産前診断を報告しています. 異常な顔の異常は遺伝病の疑いにつながった

科学分野:

医学遺伝学
産前診断
血管疾患

背景:

血管エラーズ・ダンロス症候群 (vEDS) は重度の結合組織疾患である.
vEDSは通常,成人期に診断され,しばしば重大な出来事の後です.
産前診断のVEDSは,特に既知の家族歴がない場合,まれです.

研究の目的:

VEDSの産前診断の珍しいケースを記述します
産前における潜在的なVEDS症例の特定における超音波の有用性を強調する.
VEDSの潜在的産前指標としての顔の異常に対する意識を高めること.

主な方法:

シングルトン妊娠の症例報告
偶然の超音波で顔の異常が発見されました
顔の異常とVEDSを関連付ける文献のレビュー

主要な成果:

珍しい顔の異常が産前超音波検査で発見されました
この異常は,以前は成人VEDSと関連付けられ,以前は産前症状として記述されていなかった.
このケースは産前VEDS診断のユニークな例です

結論:

産前で特定された顔の異常は,VEDSのさらなる調査を正当化します.
このケースは,vEDSに関連した産前症状のスペクトルを拡大します.
早期の胎児の疑いは早期の治療と遺伝子カウンセリングを容易にします

キーワード:

COL3A1 について遺伝子診断産前診断血管エラーズ・ダンロス症候群

さらに関連する動画

07:34

Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound 30/45MHZ System

Published on: May 5, 2018

11.8K

08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

8.7K

関連する概念動画

Pedigree Analysis

Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

The key clinical manifestations of Rheumatic heart disease (RHD) include several distinct cardiac symptoms.Carditis, a hallmark of acute rheumatic fever, involves inflammation of the heart's endocardium, myocardium, and pericardium. Chronic RHD often results from recurrent episodes of carditis. Its symptoms include the following:Murmurs are caused by valvular damage, especially to the mitral and aortic valves. Mitral stenosis or regurgitation is common, with characteristic heart murmurs...

01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...

01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

関連する実験動画