Department of Fetal Medicine, The Royal Women's Hospital, Parkville, Australia; Perinatal Research Group, Dept. Obstetrics, Gynaecology, Newborn, University of Melbourne, Parkville, Australia.
Department of Fetal Medicine, The Royal Women's Hospital, Parkville, Australia.
Best Pract Res Clin Obstet Gynaecol. 2024 Sep;96:102521. doi: 10.1016/j.bpobgyn.2024.102521. Epub 2024 Jun 15.
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.
产前超声筛查可在 3-6%的妊娠中发现胎儿结构异常。在妊娠期间发现异常为咨询、针对性成像、基因检测、胎儿干预和分娩计划提供了机会。超声是妊娠中胎儿成像的主要方式，但磁共振成像（MRI）作为一种辅助工具不断发展，提供了额外的结构和功能信息。筛查应从孕早期开始，此时超过 50%的严重缺陷可以被发现。中孕期超声检查可以平衡胎儿生长和发育带来的益处，以提高检测率，同时仍提供及时的管理选择。常规的孕晚期超声检查可以发现获得性异常或孕早期错过的异常，但并非在所有情况下都能进行。胎儿医学专家进行的针对性成像可以提高高危妊娠或已发现异常时的检测率，从而实现准确表型分析、获得先进的基因检测和专家咨询。
