Abstract：
Antenatal screening with ultrasound identifies fetal structural anomalies in 3-6% of pregnancies. Identification of anomalies during pregnancy provides an opportunity for counselling, targeted imaging, genetic testing, fetal intervention and delivery planning. Ultrasound is the primary modality for imaging the fetus in pregnancy, but magnetic resonance imaging (MRI) is evolving as an adjunctive tool providing additional structural and functional information. Screening should start from the first trimester when more than 50% of severe defects can be detected. The mid-trimester ultrasound balances the benefits of increased fetal growth and development to improve detection rates, whilst still providing timely management options. A routine third trimester ultrasound may detect acquired anomalies or those missed earlier in pregnancy but may not be available in all settings. Targeted imaging by fetal medicine experts improves detection in high-risk pregnancies or when an anomaly has been detected, allowing accurate phenotyping, access to advanced genetic testing and expert counselling.
摘要：
产前超声筛查可在3-6％的妊娠中识别胎儿结构异常。怀孕期间异常的识别为咨询提供了机会，靶向成像,基因检测,胎儿干预和分娩计划。超声是对妊娠胎儿成像的主要方式，但是磁共振成像（MRI）正在发展成为一种辅助工具，提供额外的结构和功能信息。筛查应从妊娠早期开始，可以检测到超过50％的严重缺陷。中期超声平衡增加胎儿生长和发育的好处，以提高检出率，同时仍然提供及时的管理选择。常规的妊娠晚期超声可以检测到获得性异常或怀孕早期错过的异常，但可能无法在所有设置中使用。胎儿医学专家的目标成像可改善高危妊娠或检测到异常时的检测，允许准确的表型，获得先进的基因检测和专家咨询。
