Lamont R F, Havutcu E, Salgia S, Adinkra P, Nicholl R
Department of Obstetrics & Gynaecology, Northwick Park & St Mark's NHS Trust, Harrow, Middlesex, UK.
Ultrasound Obstet Gynecol. 2004 Apr;23(4):346-51. doi: 10.1002/uog.1018.
To determine the prevalence of and the association between trisomy 21 and isolated fetal echogenic cardiac foci (FECF) identified in the second trimester in an unselected low-risk population.
All cases with isolated FECF were collected by reviewing the antenatal ultrasound database for 3 consecutive years. In order to include all trisomy 21 cases for the same period, the regional cytogenetics database and pediatric databases were examined. A 2 x 2-table analysis was performed to establish the sensitivity, specificity and positive and negative predictive values of isolated FECF as a screening test for trisomy 21 in a low-risk unselected population.
In the 3-year period of the study the total number of deliveries was 11,105, of which 10,769 (97%) had a routine detailed anomaly scan between 16 and 24 weeks' gestation. There were 311 cases (2.9%) of isolated FECF. Among these there was only one case (0.3%) of trisomy 21. In the same period, the total number of trisomy 21 cases was 14. Accordingly, the sensitivity of isolated FECF for detecting trisomy 21 was 7.1% and the specificity was 97.1%. Positive and negative predictive values of FECF were 0.3% and 99.9%, respectively.
In an otherwise healthy pregnancy, the finding of isolated FECF on a routine second-trimester anomaly scan is normal and should not be considered as a risk factor for trisomy 21 in an unselected low-risk population.
确定在未选择的低风险人群中，孕中期发现的21-三体综合征与孤立性胎儿心脏强回声灶（FECF）的患病率及其相关性。
通过回顾连续3年的产前超声数据库，收集所有孤立性FECF病例。为纳入同期所有21-三体综合征病例，检查了区域细胞遗传学数据库和儿科数据库。进行2×2表分析，以确定孤立性FECF作为未选择的低风险人群中21-三体综合征筛查试验的敏感性、特异性以及阳性和阴性预测值。
在研究的3年期间，分娩总数为11105例，其中10769例（97%）在妊娠16至24周期间进行了常规详细的畸形扫描。有311例（2.9%）孤立性FECF。其中只有1例（0.3%）为21-三体综合征。同期，21-三体综合征病例总数为14例。因此，孤立性FECF检测21-三体综合征的敏感性为7.1%，特异性为97.1%。FECF的阳性和阴性预测值分别为0.3%和99.9%。
在其他方面健康的妊娠中，孕中期常规畸形扫描发现孤立性FECF是正常情况，在未选择的低风险人群中不应将其视为21-三体综合征的危险因素。
