First and second trimester screening for fetal structural anomalies
First and second trimester screening for fetal structural anomalies
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DOI：
10.1016/j.siny.2017.11.005
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发表时间：
2018-04-01
影响因子：
3
通讯作者：
Hui, Lisa
中科院分区：
文献类型：
--
作者：
Edwards, Lindsay;Hui, Lisa
胎儿结构异常在所有怀孕中的比例高达3%，基于超声的筛查几十年来一直是常规产前护理的一个组成部分。胎儿异常的产前检测允许最佳的围产期管理，为准父母提供额外的成像，基因检测，并提供有关预后和管理选项的信息的机会。大约一半的主要结构异常现在可以在孕早期检测到，包括无脑畸形/无脑畸形、腹壁缺陷、前脑无裂畸形和囊性水瘤。然而，由于某些器官系统的持续发育，某些异常直到怀孕后期才会明显。在这种程度上，妊娠中期解剖学被专业协会推荐为检测胎儿结构异常的标准调查。所报告的结构异常的检出率根据所检查的器官系统而变化，并且还取决于诸如设备设置和超声医师经验等因素。过去二十年的技术进步继续支持超声作为妊娠主要成像方式的作用，并且超声对发育中的胎儿的安全性已经得到充分证实。随着能力和经验的增加，中枢神经系统和心血管系统的详细检查是可能的，专门的检查，如胎儿神经超声图和胎儿超声心动图，现在广泛地在三级中心进行。磁共振成像（MRI）在评估胎儿脑异常方面的作用已得到公认;胎儿MRI的其他潜在适应症包括肺体积测量（在先天性脑疝病例中）和胎儿脊柱裂修复术前的术前计划。当产前检测到重大结构异常时，由于其较高的基因组分辨率，建议使用染色体微阵列进行遗传检测而不是常规核型分析。(C)2017爱思唯尔有限公司版权所有
Fetal structural anomalies are found in up to 3% of all pregnancies and ultrasound-based screening has been an integral part of routine prenatal care for decades. The prenatal detection of fetal anomalies allows for optimal perinatal management, providing expectant parents with opportunities for additional imaging, genetic testing, and the provision of information regarding prognosis and management options. Approximately one-half of all major structural anomalies can now be detected in the first trimester, including acrania/anencephaly, abdominal wall defects, holoprosencephaly and cystic hygromata. Due to the ongoing development of some organ systems however, some anomalies will not be evident until later in the pregnancy. To this extent, the second trimester anatomy is recommended by professional societies as the standard investigation for the detection of fetal structural anomalies. The reported detection rates of structural anomalies vary according to the organ system being examined, and are also dependent upon factors such as the equipment settings and sonographer experience. Technological advances over the past two decades continue to support the role of ultrasound as the primary imaging modality in pregnancy, and the safety of ultrasound for the developing fetus is well established. With increasing capabilities and experience, detailed examination of the central nervous system and cardiovascular system is possible, with dedicated examinations such as the fetal neurosonogram and the fetal echocardiogram now widely performed in tertiary centers. Magnetic resonance imaging (MRI) is well recognized for its role in the assessment of fetal brain anomalies; other potential indications for fetal MRI include lung volume measurement (in cases of congenital diaphragmatic hernia), and pre-surgical planning prior to fetal spina bifida repair. When a major structural abnormality is detected prenatally, genetic testing with chromosomal microarray is recommended over routine karyotype due to its higher genomic resolution. (C) 2017 Elsevier Ltd. All rights reserved.