Bromley B, Lieberman E, Shipp T D, Richardson M, Benacerraf B R
Department of Obstetrics and Gynecology, Massachusetts General Hospital, Boston, USA.
J Ultrasound Med. 1998 Feb;17(2):127-31. doi: 10.7863/jum.1998.17.2.127.
Our objective was to evaluate the significance of an echogenic intracardiac focus in a mixed population of fetuses at high and low risk for aneuploidy. Over a 1 year period, we prospectively identified all fetuses with an echogenic intracardiac focus seen during prenatal sonography. A detailed structural evaluation was performed on each fetus as permitted by gestational age. The location and number of foci were tabulated prospectively, as were associated abnormalities. Follow-up was obtained by review of the medical record. Of the 290 fetuses who had an echogenic intracardiac focus, 14 of them were aneuploid (4.8%). Of the 290 mothers, 125 women were aged 35 years or older and 165 women were younger than 35 years old. Among the 125 fetuses born to women 35 years or older, eight were aneuploid fetuses (6.4%), while among the 165 fetuses of younger mothers, six were aneuploid fetuses (3.6%) (rate ratio = 1.8; 95% confidence interval [extremes] = 0.6, 4.9). Only one of the 14 aneuploid fetuses had an echogenic intracardiac focus as the only sonographic finding, and this occurred in a woman aged 41 years. The majority of the echogenic intracardiac foci (87.6%) were located in the left ventricle, while 4.8% of the foci were right-sided and 7.6% were bilateral. Among the 14 aneuploid fetuses, 14% had bilateral echogenic intracardiac foci and 7% had right-sided foci. Among the euploid fetuses, 7.3% had bilateral echogenic intracardiac foci and 4.7% had right-sided foci. In conclusion, we have shown that the presence of an echogenic intracardiac focus does raise the risk that the fetus has a chromosomal abnormality, most commonly Down syndrome, although all but one aneuploid fetus in our study had other sonographic findings.
我们的目的是评估在非整倍体风险高低不同的混合胎儿群体中，心内强回声灶的意义。在1年的时间里，我们前瞻性地确定了产前超声检查时发现有心内强回声灶的所有胎儿。根据孕周对每个胎儿进行详细的结构评估。前瞻性地记录了强回声灶的位置和数量以及相关异常情况。通过查阅病历进行随访。在290例有心内强回声灶的胎儿中，14例为非整倍体（4.8%）。在290名母亲中，125名年龄在35岁及以上，165名年龄小于35岁。在35岁及以上母亲所生的125例胎儿中，8例为非整倍体胎儿（6.4%），而在年龄较小母亲所生的165例胎儿中，6例为非整倍体胎儿（3.6%）（率比 = 1.8；95%置信区间[极值] = 0.6, 4.9）。14例非整倍体胎儿中只有1例的心内强回声灶是唯一的超声检查发现，该情况发生在一名41岁的女性身上。大多数心内强回声灶（87.6%）位于左心室，而4.8%的强回声灶位于右侧，7.6%为双侧。在14例非整倍体胎儿中，14%有双侧心内强回声灶，7%有右侧强回声灶。在整倍体胎儿中，7.3%有双侧心内强回声灶，4.7%有右侧强回声灶。总之，我们已经表明，心内强回声灶的存在确实会增加胎儿染色体异常的风险，最常见的是唐氏综合征，尽管在我们的研究中，除1例非整倍体胎儿外，其他胎儿都有其他超声检查发现。
