Massachusetts Department of Public Health, Boston, MA.
Massachusetts Department of Public Health, Boston, MA.
J Pediatr. 2023 Jun;257:113366. doi: 10.1016/j.jpeds.2023.02.012. Epub 2023 Feb 28.
To describe trends in delayed diagnosis of critical congenital heart defects (CCHDs) with prenatal and postnatal screening advances.
We evaluated a retrospective cohort of live births with CCHD delivered between 2004 and 2018 from a statewide, population-based birth defects surveillance system in Massachusetts. Demographic information were obtained from vital records. We estimated timely (prenatal or birth/transfer hospital) and delayed diagnosis (after discharge) proportions by year and time periods coinciding with the transition to mandatory pulse oximetry in 2015.
We identified 1524 eligible CCHD cases among 1 087 027 live births. By 2018, 92% of cases received a timely diagnosis, most prenatally. From 2004 to 2018, prenatal diagnosis increased from 46% to 76% of cases, while hospital diagnosis decreased from 38% to 17%, and delayed diagnosis declined from 16% to 7%. These trends were consistent across all characteristics evaluated. Among cases without a prenatal diagnosis, the proportion with delayed diagnosis did not change over time, even after implementation of mandatory pulse oximetry screening. Prenatal detection increased the most among severe cases (treated or died in first month of life). Well-appearing newborns without prenatal diagnosis made up 79% of delayed diagnosis cases by 2015-2018. Delayed diagnosis was most common for coarctation.
While prenatal diagnosis of CCHD increased dramatically, there was no reduction in delayed diagnosis among postnatally diagnosed infants, even after pulse oximetry screening became mandatory. Pulse oximetry may not reduce delayed diagnosis in settings with high prenatal detection, and other strategies are needed to ensure timely diagnosis of well-appearing newborns.
描述随着产前和产后筛查技术的进步，先天性严重心脏病（CCHD）延迟诊断的趋势。
我们评估了马萨诸塞州全州人口出生缺陷监测系统中 2004 年至 2018 年间出生的患有 CCHD 的活产儿的回顾性队列。人口统计学信息从生命记录中获得。我们根据年份和与 2015 年强制脉搏血氧仪检测过渡时期相吻合的时间段，估计了及时（产前或出生/转院医院）和延迟诊断（出院后）的比例。
我们在 1087027 例活产儿中确定了 1524 例符合条件的 CCHD 病例。到 2018 年，92%的病例得到了及时诊断，其中大多数是在产前。从 2004 年到 2018 年，产前诊断的比例从 46%增加到 76%，而医院诊断的比例从 38%下降到 17%，延迟诊断的比例从 16%下降到 7%。这些趋势在所有评估的特征中都是一致的。在没有产前诊断的病例中，即使在强制脉搏血氧仪筛查实施后，随着时间的推移，延迟诊断的比例并没有改变。在出生后需要治疗或在生命的第一个月死亡的严重病例中，产前发现的比例增加最多。在 2015-2018 年，没有产前诊断的表现良好的新生儿占延迟诊断病例的 79%。延迟诊断最常见的是主动脉缩窄。
尽管 CCHD 的产前诊断显著增加，但在新生儿出生后，即使在脉搏血氧仪筛查成为强制性后，也没有减少延迟诊断的情况。在产前检测率高的情况下，脉搏血氧仪可能无法减少延迟诊断，需要采取其他策略来确保表现良好的新生儿得到及时诊断。
