Neiger Ran
Director of the Maternal-Fetal Medicine Unit, Ma'ayanei Hayeshua Hospital, Bnei Brak 51544, Israel.
J Clin Med. 2014 Sep 5;3(3):986-96. doi: 10.3390/jcm3030986.
First-trimester sonographic assessment of the risk of chromosomal abnormalities is routinely performed throughout the world, primarily by measuring fetal nuchal translucency thickness between 11-13 weeks' gestation, combined with assessment of serum markers. The development of high-frequency transvaginal transducers has led to improved ultrasound resolution and better visualization of fetal anatomy during the first-trimester. Continuous improvement in ultrasound technology allows a thorough detailed assessment of fetal anatomy at the time of the nuchal translucency study. Using transabdominal or transvaginal sonography, or a combination of both approaches, it is now possible to diagnose a wide range of fetal anomalies during the first trimester. Multiple studies reported early diagnosis of major fetal anomalies after demonstrating the association of increased nuchal translucency thickness with structural defect in chromosomally normal and abnormal fetuses. Normal sonographic findings provide reassurance for women at high risk while detection of fetal malformation during the first trimester enables discussion and decisions about possible treatments and interventions, including termination of pregnancy, during an early stage of pregnancy.
在全球范围内,孕早期超声评估染色体异常风险是常规操作,主要通过测量孕11至13周胎儿颈部透明带厚度,并结合血清标志物评估来进行。高频经阴道探头的发展提高了超声分辨率,使孕早期胎儿解剖结构的可视化更好。超声技术的不断改进使得在进行颈部透明带检查时能够对胎儿解剖结构进行全面详细的评估。使用经腹超声或经阴道超声,或两种方法结合,现在有可能在孕早期诊断出多种胎儿异常。多项研究报告称,在证明颈部透明带厚度增加与染色体正常和异常胎儿的结构缺陷有关后,可早期诊断主要胎儿异常。正常的超声检查结果为高危孕妇提供了安心感,而孕早期检测到胎儿畸形则有助于在妊娠早期就可能的治疗和干预措施,包括终止妊娠,进行讨论并做出决策。