Late detection of critical congenital heart disease (CCHD) is multifactorial and ill defined. We investigated the results of pulse oximetry screening (POS) and points in the care chain that contribute to delayed detection of CCHD. The medical records of 13 infants with delayed detection at a single pediatric cardiac center between 2013 and 2016 were identified and reviewed. Left heart obstructive lesions were the most common diagnosis (n = 8; 62%) and included coarctation of the aorta (n = 6), interrupted aortic arch with ventricular septal defect (n = 1), and critical aortic stenosis (n = 1). Tetralogy of Fallot (TOF) (n = 2), truncus arteriosus (n = 1), pulmonary atresia with ventricular septal defect (n = 1), and total anomalous pulmonary venous drainage (n = 1) made up the remainder of the conditions. Routine prenatal care was reported in most infants (10/13). Infants with late detection had either a true negative POS (10/13 infants) or no POS performed (3/13 infants). At the time of detection, 5/6 (83%) infants with coarctation had normal pulse oximetry values, whereas 6/7 (86%) infants with other CCHD developed abnormal pulse oximetry values. At diagnosis, 11/13 (85%) infants had significant signs or symptoms of clinical deterioration; only 2 infants were completely asymptomatic. Late detection of CCHD is uncommon and multifactorial. Eliminating late detection is dependent upon improving detection on screening obstetrical ultrasounds, enforcement of universal POS, and attention to the neonatal physical exam.

严重先天性心脏病 (CCHD) 的晚期检测是多因素的且定义不明确。我们调查了脉搏血氧仪筛查 (POS) 的结果以及护理链中导致延迟检测 CCHD 的点。对 2013 年至 2016 年间在一个儿科心脏中心延迟检测的 13 名婴儿的病历进行了识别和审查。左心梗阻性病变是最常见的诊断（n  = 8；62%），包括主动脉缩窄（n  = 6）、主动脉弓中断伴室间隔缺损（n  = 1）和严重主动脉瓣狭窄（n  = 1 ） ）。法洛四联症 (TOF) ( n  = 2)，动脉干 ( n = 1)、肺动脉闭锁伴室间隔缺损 ( n  = 1)、肺静脉完全异常引流 ( n = 1) 构成了其余的条件。大多数婴儿（10/13）报告了常规产前护理。晚期检测的婴儿有一个真正的阴性 POS（10/13 婴儿）或没有进行 POS（3/13 婴儿）。在检测时，5/6 (83%) 患有缩窄的婴儿脉搏血氧饱和度值正常，而 6/7 (86%) 患有其他 CCHD 的婴儿脉搏血氧饱和度值异常。诊断时，11/13 (85%) 的婴儿有明显的临床恶化迹象或症状；只有 2 名婴儿完全无症状。CCHD 的晚期检测并不常见，而且是多因素的。消除延迟检测取决于改进对筛查产科超声检查的检测、通用 POS 的实施以及对新生儿体检的关注。