Department of Obstetrics and Gynecology, Washington University School of Medicine, Campus Box 8064, 660 S Euclid Ave, St Louis, MO 63110, USA.
J Ultrasound Med. 2009 Dec;28(12):1639-43. doi: 10.7863/jum.2009.28.12.1639.
The purpose of this study was to evaluate the impact of an echogenic intracardiac focus (EIF) on the risk for fetal trisomy 21 (T21) in populations with differing prevalence of T21.
A retrospective cohort study of pregnancies presenting to our prenatal ultrasound units over 16 years (1990-2006) was conducted. Contingency table analysis of the presence of an EIF and diagnosis of fetal T21 was performed. The groups analyzed included the following: (1) all fetuses with EIF plus other sonographic markers, (2) EIF as an isolated sonographic marker, (3) those younger than 35 years with an isolated finding of EIF, and (4) a group with an isolated finding of EIF excluding those at increased risk for T21 on serum screening.
Echogenic intracardiac foci were found in 2223 of 62,111 pregnancies (3.6%), and T21 was diagnosed in 218 pregnancies (0.4%). The presence of an EIF along with other markers was associated with a statistically significant risk for T21 (positive likelihood ratio [LR], 4.4; 95% confidence interval [CI], 3.2-6.0; P < .05). An isolated EIF was not associated with a statistically significant increased risk for T21 in patients younger than 35 years (positive LR, 1.7; 95%, CI 0.7-4.1) and those without abnormal serum screening results for aneuploidy (positive LR, 1.6; 95% CI, 0.8-3.1).
The finding of an isolated EIF on prenatal sonography does not significantly increase the risk for fetal T21 in populations not otherwise at an increased risk for the disorder. An isolated EIF should be considered an incidental finding in patients younger than 35 years and in those without abnormal serum aneuploidy screening results.
本研究旨在评估心内高回声灶（EIF）对不同 21 三体（T21）患病率人群中胎儿 T21 风险的影响。
对 16 年来（1990-2006 年）在我们产前超声单位就诊的妊娠进行了回顾性队列研究。对存在 EIF 和胎儿 T21 诊断的病例进行了列联表分析。分析的组包括以下内容：（1）所有 EIF 合并其他超声标志物的胎儿；（2）EIF 作为孤立的超声标志物；（3）年龄小于 35 岁且 EIF 孤立存在的患者；（4）排除血清筛查中 T21 风险增加的孤立 EIF 组。
在 62111 例妊娠中发现 2223 例（3.6%）存在 EIF，诊断出 218 例 T21（0.4%）。EIF 与其他标志物并存与 T21 发生的统计学显著相关（阳性似然比 [LR]，4.4；95%置信区间 [CI]，3.2-6.0；P<.05）。在年龄小于 35 岁的患者（阳性 LR，1.7；95%CI，0.7-4.1）和未发现非整倍体血清筛查异常的患者中，孤立的 EIF 与 T21 发生的统计学显著风险增加无关（阳性 LR，1.6；95%CI，0.8-3.1）。
在未增加胎儿 T21 风险的人群中，产前超声检查发现孤立的 EIF 并不会显著增加胎儿 T21 的风险。对于年龄小于 35 岁的患者和血清非整倍体筛查结果正常的患者，孤立的 EIF 应视为偶然发现。
