Huggon I C, Cook A C, Simpson J M, Smeeton N C, Sharland G K
Fetal Cardiology, Department of Congenital Heart Disease, 15th Floor, Guy's Tower, Guy's Hospital, St Thomas Street, London SE1 9RT, UK.
Ultrasound Obstet Gynecol. 2001 Jan;17(1):11-6. doi: 10.1046/j.1469-0705.2001.00307.x.
To assess the effect of echogenic foci in the fetal heart on the risk for Down's syndrome.
Prospective evaluation of fetal echocardiograms at a fetal cardiology referral center and systematic postnatal follow-up. A relative risk was calculated from the prevalence of echogenic foci in fetuses subsequently demonstrated to have trisomy 21 divided by that in normal fetuses. For a subgroup of 548 fetuses with echogenic foci but otherwise normal detailed anomaly scans, the expected number of trisomy 21 fetuses calculated from maternal age risks was compared with the observed number to derive a relative risk for isolated echogenic foci.
Echogenic foci occurred in 905 of 6904 fetuses scanned, but after excluding those referred specifically because of an echogenic focus and those with heart defects, the incidence was 9.5%. Overall, echogenic foci were more frequent in fetuses with trisomy 21 than those without by a factor of 2.93. For the 548 fetuses with echogenic foci but otherwise normal detailed anomaly scans, the actual number of trisomy 21 fetuses exceeded that expected on the basis of maternal age risks by a factor of 5.54. Combination with data from several previous studies suggests a consensus relative risk of about 3.0.
Echogenic foci are associated with increased risk of trisomy 21 even when present as an isolated finding. Their significance in an individual should be interpreted in the light of prior risk assessment based on maternal age and results of any first-trimester screening tests. We suggest that the prior risk is increased by a factor of 3.0.
评估胎儿心脏内强回声灶对唐氏综合征风险的影响。
在胎儿心脏病转诊中心对胎儿超声心动图进行前瞻性评估，并进行系统的产后随访。相对风险通过随后被证实为21三体胎儿中强回声灶的患病率除以正常胎儿中强回声灶的患病率来计算。对于548例有强回声灶但其他详细异常扫描正常的胎儿亚组，将根据母亲年龄风险计算出的21三体胎儿预期数量与观察到的数量进行比较，以得出孤立性强回声灶的相对风险。
在6904例接受扫描的胎儿中，有905例出现强回声灶，但排除因强回声灶或心脏缺陷而专门转诊的胎儿后，发病率为9.5%。总体而言，21三体胎儿中的强回声灶比非21三体胎儿更常见，比例为2.93。对于548例有强回声灶但其他详细异常扫描正常的胎儿，21三体胎儿的实际数量比基于母亲年龄风险预期的数量高出5.54倍。结合此前多项研究的数据表明，共识相对风险约为3.0。
即使作为孤立发现出现，强回声灶也与21三体风险增加相关。其在个体中的意义应根据基于母亲年龄的先前风险评估以及任何孕早期筛查试验的结果来解释。我们建议先前风险增加3.0倍。
