Bronstein M, Yoffe N
Dept. of Obstetrics and Gynecology A, Rambam Medical Center, Haifa.
Harefuah. 1990 Jan 1;118(1):12-3.
A case of very early sonographic detection of trisomy 18 is presented. It is the second most common autosomal aneuploidy in newborns and the most common anomaly in stillborns. More than 130 features of this trisomy have been detailed. Combinations of findings highly suggestive of the diagnosis can be detected in early stages of pregnancy using transvaginal sonography. Identification of these anomalies may be an indication for early amniocentesis.
本文报告了一例18三体综合征的极早期超声诊断病例。18三体综合征是新生儿中第二常见的常染色体非整倍体疾病,也是死产中最常见的异常情况。该三体综合征已详细记录了130多种特征。使用经阴道超声检查可在妊娠早期检测到高度提示该诊断的多种检查结果组合。识别这些异常情况可能是早期羊膜穿刺术的指征。