Division of Cardiology, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT, USA.
Ultrasound Obstet Gynecol. 2012 Oct;40(4):418-25. doi: 10.1002/uog.10116. Epub 2012 Sep 17.
To evaluate the extent and determinants of missed prenatal detection of congenital heart disease (CHD) in a population-based setting.
This was a retrospective cohort study of cases with CHD, excluding minor defects, identified between 1997 and 2007 by a statewide surveillance program. We examined a comprehensive list of potential risk factors for which data were available in the surveillance database from abstracted medical charts. We analyzed the association of fetal, maternal and encounter factors with 1) whether a prenatal ultrasound was performed and 2) prenatal detection of CHD.
CHD was detected prenatally in only 39% of 1474 cases, with no improvement in detection rate over the 10-year period. Among the 97% (n = 1431) of mothers who underwent one or more ultrasound examinations, 35% were interpreted as abnormal; fetal echocardiography was performed in 27% of the entire cohort. Maternal and encounter factors increasing the adjusted odds of prenatal detection included: family history of CHD (OR, 4.3 (95% CI, 1.9-9.9)), presence of extracardiac defects (OR, 2.7 (95% CI, 1.9-3.9)) and ultrasound location i.e. high risk clinic vs clinic (OR, 2.1 (95% CI, 1.3-3.1)). Defects that would be expected to have an abnormal outflow-tract view were missed more often (64%) than were those that would be expected to have an abnormal four-chamber view (42%).
The majority of CHD cases over the 10-year study period were missed prenatally and detection rates did not increase materially during that time. The failure to detect CHD prenatally was related to encounter characteristics, specifically involving screening ultrasound examinations, which may be targeted for improvement.
在人群中评估先天性心脏病（CHD）产前漏诊的程度和决定因素。
本研究为回顾性队列研究，纳入 1997 年至 2007 年期间全州监测计划中发现的除轻微畸形外的所有 CHD 病例。我们检查了监测数据库中可获得的潜在危险因素的综合清单，并分析了胎儿、产妇和就诊因素与 1）是否进行产前超声检查和 2）产前 CHD 检测的关系。
在 1474 例 CHD 病例中，仅 39%的病例在产前被发现，10 年内检测率没有提高。在接受过一次或多次超声检查的 97%（n=1431）的母亲中，35%的检查结果被认为异常；在整个队列中，27%的患者进行了胎儿超声心动图检查。增加产前检测调整后优势比的产妇和就诊因素包括：CHD 家族史（OR，4.3（95% CI，1.9-9.9））、存在心脏外畸形（OR，2.7（95% CI，1.9-3.9））和超声位置，即高危诊所与诊所（OR，2.1（95% CI，1.3-3.1））。预计流出道视图异常的缺陷比预计四腔视图异常的缺陷更容易漏诊（64%比 42%）。
在 10 年的研究期间，大多数 CHD 病例在产前被漏诊，在此期间检测率并没有实质性提高。未能在产前发现 CHD 与就诊特征有关，特别是与筛查超声检查有关，这些因素可能是改善的目标。
