超声在胎儿遗传综合征诊断中的作用。
The role of ultrasound in the diagnosis of fetal genetic syndromes.
作者信息
Conner Shayna N, Longman Ryan E, Cahill Alison G
机构信息
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Washington University, 4911 Barnes Jewish Hospital Plaza, Campus Box 8064, St. Louis, MO 63110, USA.
Department of Obstetrics and Gynecology, Division of Maternal Fetal Medicine, Washington University in St Louis, St Louis, MO, USA.
出版信息
Best Pract Res Clin Obstet Gynaecol. 2014 Apr;28(3):417-28. doi: 10.1016/j.bpobgyn.2014.01.005. Epub 2014 Jan 28.
The use of ultrasound in the prenatal diagnosis of fetal genetic syndromes is rapidly evolving. Advancing technology and new research findings are aiding in the increased accuracy of ultrasound-based diagnosis in combination with other methods of non-invasive and invasive fetal testing. Ultrasound as a screening tool for aneuploidy and other anomalies is increasingly being used throughout pregnancy, beginning in the first trimester. Given the number of recorded syndromes, it is important to identify patterns and establish a strategy for identifying abnormalities on ultrasound. These syndromes encompass a wide range of causes from viral, substance-linked, chromosomal, and other genetic syndromes. Despite the ability of those experienced in ultrasound, it is important to note that not all fetal genetic syndromes can be identified prenatally, and even common syndromes often have no associated ultrasound findings. Here, we review the role of ultrasound in the diagnosis of fetal genetic syndromes.
超声在胎儿遗传综合征产前诊断中的应用正在迅速发展。技术的进步和新的研究结果有助于提高基于超声的诊断与其他非侵入性和侵入性胎儿检测方法相结合的准确性。超声作为一种用于筛查非整倍体和其他异常的工具，在整个孕期，从孕早期开始就越来越多地被使用。鉴于已记录的综合征数量众多，识别模式并建立一种在超声检查中识别异常的策略非常重要。这些综合征包括病毒、物质相关、染色体和其他遗传综合征等多种病因。尽管超声专家有能力进行诊断，但需要注意的是，并非所有胎儿遗传综合征都能在产前被识别出来，而且即使是常见的综合征通常也没有相关的超声表现。在此，我们综述超声在胎儿遗传综合征诊断中的作用。
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