Bradley Kathleen E, Santulli Thomas S, Gregory Kimberly D, Herbert William, Carlson Dru E, Platt Lawrence D
Department of Obstetrics-Gynecology, Division of Maternal-Fetal Medicine and Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.
Am J Obstet Gynecol. 2005 Jun;192(6):2021-6; discussion 2026-8. doi: 10.1016/j.ajog.2005.03.033.
This study was undertaken to evaluate the relationship of an isolated fetal intracardiac echogenic focus in a population of patients with a mixed risk for aneuploidy when presenting for prenatal diagnosis.
All women referred to our institution for screening ultrasound were prospectively evaluated for the presence of an intracardiac echogenic focus in the fetal heart. Each patient was evaluated for the presence of clinical risk factors including ultrasound findings, biochemical screening, and maternal age. The population of patients was then described and neonatal outcomes were obtained.
A total of 10,875 patients were referred and 176 cases of fetal intracardiac echogenic foci were evaluated. There was an overall prevalence of 1.6% in our population. The patients with other ultrasound findings and/or maternal age older than 35 years who underwent amniocentesis had 3 abnormal karyotypes identified and had identifiable risk factors. In the group less than 35 years, the relative risk was 2.55 of having an amniocentesis for an isolated echogenic focus (with no cases of fetal aneuploidy found) in comparison with our referred group of nonadvanced maternal age patients without any ultrasound markers or findings.
This isolated echogenic finding appears to be a benign variant and not an increased risk for fetal aneuploidy. The chromosomal abnormalities were seen in the group with risk factors including maternal age and/or other ultrasound findings. Evaluation of maternal age, biochemical markers, and ultrasound markers should be used together to help determine the risk of patients with an isolated echogenic focus.
本研究旨在评估在进行产前诊断时，孤立性胎儿心内强回声灶在非整倍体风险混合人群中的关系。
对所有转诊至我院进行超声筛查的孕妇进行前瞻性评估，以确定胎儿心脏内是否存在心内强回声灶。对每位患者评估临床风险因素，包括超声检查结果、生化筛查和孕妇年龄。然后描述患者群体并获取新生儿结局。
共转诊10875例患者，评估了176例胎儿心内强回声灶。总体患病率为1.6%。接受羊膜腔穿刺术的有其他超声检查结果和/或孕妇年龄大于35岁的患者中，发现3例核型异常且有可识别的风险因素。在年龄小于35岁的组中，与我院转诊的无任何超声标记物或检查结果的非高龄孕妇组相比，孤立性强回声灶进行羊膜腔穿刺术的相对风险为2.55（未发现胎儿非整倍体病例）。
这种孤立性强回声表现似乎是一种良性变异，并非胎儿非整倍体风险增加。染色体异常出现在有包括孕妇年龄和/或其他超声检查结果等风险因素的组中。应综合评估孕妇年龄、生化标记物和超声标记物，以帮助确定孤立性强回声灶患者的风险。
