Wax J R, Royer D, Mather J, Chen C, Aponte-García A, Steinfeld J D, Ingardia C J
Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, Hartford Hospital, 80 Seymour Street, Hartford, CT 06102-5034, USA.
Ultrasound Obstet Gynecol. 2000 Aug;16(2):123-7. doi: 10.1046/j.1469-0705.2000.00206.x.
To prospectively and quantitatively grade intracardiac echogenic focus/foci (ICEF) using sonographic gain reduction and to determine the association of ICEF by grade with fetal aneuploidy.
Women referred for raised maternal age (> or = 35 years), or > 18 years of age and with a Down syndrome risk > or = 1/270, increased trisomy 18 risk by second trimester serum screen or a prior aneuploid offspring were included in this institutionally approved protocol. Only pregnancies of gestational age between 14 and 24 weeks were included. All women had a targeted ultrasound and were offered fetal chromosome analysis. The classification of ICEF was made from a four-chamber view of the fetal heart. The echo amplitude of the ICEF was compared to that of the thoracic spine and categorized according to the comparative gain setting at which the image of the relevant structure disappeared: Grade O = no ICEF present, Grade 1 = ICEF image lost before thoracic spine when gain was reduced, Grade 2 = ICEF image lost at same gain setting as thoracic spine, Grade 3 = thoracic spine image lost before ICEF. The primary outcome was a prenatally or post-natally detected chromosomal abnormality.
A total of 885 eligible women were examined during the 21-month study period. ICEF were seen in 29 (3.3%) fetuses: 24(83%) in the left ventricle and five (17%) in the right ventricle. A chromosome abnormality was identified in 13/671 (1.9%) fetuses without ICEF (Grade 0) and 0/21 (0%) fetuses with Grade 1 ICEF. In contrast, two of five (40%) fetuses with Grade 2 ICEF were aneuploid (P = 0.005). No Grade 3 ICEF were observed. Additional sonographic abnormalities were seen in both aneuploid fetuses with Grade 2 ICEF. Interobserver agreement on ICEF grading was noted in 50/50 (100%) examinations (kappa = 1.0).
Sonographic grading of ICEF is feasible and highly reliable. Grade 2 ICEF, especially when accompanied by additional sonographic markers of a chromosomal abnormality, are associated with aneuploidy significantly more frequently than Grade 1 ICEF.
前瞻性地定量评估心内强回声灶（ICEF），采用超声增益降低技术对其进行分级，并确定不同分级的ICEF与胎儿非整倍体的相关性。
本研究纳入因产妇年龄增加（≥35岁），或年龄大于18岁且唐氏综合征风险≥1/270，孕中期血清学筛查三体18风险增加，或既往有非整倍体胎儿的孕妇。本研究经机构批准，仅纳入孕龄在14至24周之间的孕妇。所有孕妇均接受针对性超声检查，并接受胎儿染色体分析。ICEF的分类基于胎儿心脏的四腔心切面。将ICEF的回声幅度与胸椎的回声幅度进行比较，并根据相关结构图像消失时的比较增益设置进行分类：0级 = 无ICEF，1级 = 增益降低时ICEF图像在胸椎图像消失之前消失，2级 = ICEF图像与胸椎图像在相同增益设置下消失，3级 = 胸椎图像在ICEF图像消失之前消失。主要结局为产前或产后检测到的染色体异常。
在21个月的研究期间，共检查了885例符合条件的孕妇。29例（3.3%）胎儿发现ICEF：24例（83%）位于左心室，5例（17%）位于右心室。13/671例（1.9%）无ICEF（0级）胎儿和0/21例1级ICEF胎儿被鉴定出染色体异常。相比之下，5例2级ICEF胎儿中有2例（40%）为非整倍体（P = 0.005）。未观察到3级ICEF。2例2级ICEF非整倍体胎儿均发现其他超声异常。50/50例（100%）检查的ICEF分级观察者间一致性良好（kappa = 1.0）。
ICEF的超声分级可行且高度可靠。2级ICEF，尤其是伴有染色体异常的其他超声标记物时，与非整倍体的相关性明显高于1级ICEF。
