Epidemiologic features of the presentation of critical congenital heart disease: Implications for screening
Epidemiologic features of the presentation of critical congenital heart disease: Implications for screening
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DOI：
10.1542/peds.2007-0421
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发表时间：
2008-04-01
期刊：
影响因子：
8
通讯作者：
Kimmel, Stephen E.
中科院分区：
文献类型：
--
作者：
Schultz, Amy H.;Localio, A. Russell;Kimmel, Stephen E.
OBJECTIVE.重症先天性心脏病已被建议作为新生儿筛查的目标。本研究旨在确定危重先天性心脏病引起的严重生理损害的发生率和时间以及易损病变的分布。这些描述性参数必须被定义，以评估任何建议的筛选策略的影响和可行性。对同一机构收治的危重先天性心脏病新生儿进行回顾性队列研究。危重先天性心脏病定义为需要侵入性干预或导致出生后30天内死亡的先天性心脏病。严重的生理损害定义为侵入性干预前的严重代谢性酸中毒、癫痫发作、心脏骤停或实验室证据显示的肾或肝损伤。当出生12小时后未确诊的先天性心脏病导致严重的生理损害时，被归类为潜在可预防的。490例患者中有76例（15.5%）发生了严重的生理损害，490例患者中有33例（6.7%）发生了潜在可预防的严重生理损害。大多数（83%）未被识别的先天性心脏病的结果发生在12小时后的年龄显着的生理妥协。90.9%的潜在可预防的严重生理损害病例有主动脉弓阻塞。在一般人群中，先天性心脏病导致的潜在可预防的重大生理损害的发生率估计为1/15000至1/26000活产。由于严重先天性心脏病而导致的重大生理损害的发生率和时间似乎适合于出生后筛查。任何可行的筛查策略都必须对主动脉弓阻塞的病变敏感。
OBJECTIVE. Critical congenital heart disease has been proposed as a target of newborn screening. This study aimed to define the incidence and timing of significant physiologic compromise attributable to critical congenital heart disease as well as the distribution of vulnerable lesions. These descriptive parameters must be defined to evaluate the impact and feasibility of any proposed screening strategy.METHODS. A retrospective cohort study of neonates who had critical congenital heart disease and were admitted to a single institution was conducted. Critical congenital heart disease was defined as congenital heart disease that required invasive intervention or resulted in death in the first 30 days of life. Significant physiologic compromise was defined by severe metabolic acidosis, seizure, cardiac arrest, or laboratory evidence of renal or hepatic injury before invasive intervention. Significant physiologic compromise was classified as potentially preventable when it occurred as a result of undiagnosed congenital heart disease after 12 hours of life.RESULTS. Significant physiologic compromise occurred in 76 ( 15.5%) of 490 patients, and potentially preventable significant physiologic compromise occurred in 33 ( 6.7%) of 490 patients. Most ( 83%) significant physiologic compromise as a result of unrecognized congenital heart disease occurred after 12 hours of age. A total of 90.9% of cases of potentially preventable significant physiologic compromise had aortic arch obstruction. The incidence of potentially preventable significant physiologic compromise as a result of congenital heart disease in the general population is estimated to be 1 per 15 000 to 1 per 26 000 live births.CONCLUSIONS. The incidence and timing of significant physiologic compromise as a result of critical congenital heart disease seems amenable to postnatal screening. Any viable screening strategy must be sensitive for lesions with aortic arch obstruction.