Vintzileos A M, Campbell W A, Nochimson D J, Weinbaum P J
Obstet Gynecol. 1987 Apr;69(4):640-60.
With the advent of improved ultrasound imaging, it is now possible to make an intrauterine diagnosis of many fetal anomalies. The key to an accurate antenatal diagnosis is careful scanning of the fetus and knowledge of the abnormalities that may be associated with a particular anomaly. In the presence of fetal anomalies known to be associated with increased frequency of chromosome abnormalities, fetal karyotyping is indicated, using either amniocentesis or fetal blood sampling, depending upon the urgency of the diagnosis. Fetal echocardiography is mandatory when the ultrasonically detected fetal anomaly is one that is known to be associated frequently with cardiac disease. Based on the antenatal findings, the parents should receive appropriate genetic and perinatal counseling. The management plan should always take into consideration the parents' wishes. Management plans for the most common ultrasonically detected fetal anomalies are presented, based upon review of the literature and authors' experience.
随着超声成像技术的改进，现在可以对许多胎儿异常进行宫内诊断。准确的产前诊断的关键是仔细扫描胎儿，并了解可能与特定异常相关的异常情况。如果已知胎儿异常与染色体异常频率增加有关，则应根据诊断的紧迫性，使用羊膜穿刺术或胎儿采血进行胎儿核型分析。当超声检测到的胎儿异常是已知经常与心脏病相关的异常时，胎儿超声心动图是必需的。根据产前检查结果，应向父母提供适当的遗传和围产期咨询。管理计划应始终考虑父母的意愿。基于文献回顾和作者经验，介绍了最常见的超声检测到的胎儿异常的管理计划。
