Manning J E, Ragavendra N, Sayre J, Laifer-Narin S L, Melany M L, Grant E G, Crandall B F
Department of Radiological Sciences, UCLA School of Medicine 90095-6969, USA.
AJR Am J Roentgenol. 1998 Apr;170(4):1083-4. doi: 10.2214/ajr.170.4.9530064.
The aim of the study was to determine if an association exists between intracardiac echogenic foci in the second-trimester fetus and trisomy 21.
Over a 2-year period, targeted fetal sonography was performed for various indications in 1593 second-trimester high-risk pregnant women. Presence or absence of echogenic foci was recorded for each fetus. Amniocentesis for karyotype analysis was performed in 901 subjects immediately after sonography. The findings of these 901 subjects formed the basis of this report.
Intracardiac echogenic foci were present in the left ventricle of 24 (3%) of the 901 fetuses. Three (13%) of these 24 fetuses had trisomy 21; no chromosomal abnormalities were found in the other 21 fetuses. Karyotype analysis revealed trisomy 21 in 14 (2%) of the remaining 877 fetuses who did not exhibit intracardiac echogenic foci. The sensitivity, specificity, positive predictive values, and negative predictive values for intracardiac echogenic foci in predicting trisomy 21 were 18%, 98%, 13%, and 98%, respectively. The association of intracardiac echogenic foci and trisomy 21 was significant (p < .009) by the two-tailed Fisher's exact test.
In a high-risk obstetric population, the association between fetal intracardiac echogenic foci and trisomy 21 was statistically significant. Therefore, women carrying fetuses with intracardiac echogenic foci should be informed of the statistical association with trisomy 21.
本研究旨在确定孕中期胎儿心脏内强回声灶与21三体之间是否存在关联。
在两年时间里，对1593例孕中期高危孕妇进行了针对性胎儿超声检查，检查目的各异。记录每个胎儿是否存在强回声灶。901例受检者在超声检查后立即进行了羊水穿刺染色体核型分析。本报告基于这901例受检者的检查结果。
901例胎儿中，24例（3%）胎儿的左心室内存在心脏内强回声灶。这24例胎儿中有3例（13%）为21三体；其他21例胎儿未发现染色体异常。在其余877例未出现心脏内强回声灶的胎儿中，染色体核型分析显示有14例（2%）为21三体。心脏内强回声灶预测21三体的敏感性、特异性、阳性预测值和阴性预测值分别为18%、98%、13%和98%。采用双侧Fisher精确检验，心脏内强回声灶与21三体之间的关联具有统计学意义（p < 0.009）。
在高危产科人群中，胎儿心脏内强回声灶与21三体之间的关联具有统计学意义。因此，应告知怀有心脏内有强回声灶胎儿的孕妇其与21三体之间的统计学关联。
