Abstract：
Interruption of the aortic arch (IAA) is a rare but life-threatening congenital heart defect if not corrected in the neonatal period. IAA type B is highly correlated with 22q11.2 deletion syndrome (22q11.2DS); approximately 50% of patients with IAA type B also have 22q11.2DS (Peyvandi et al.; Goldmuntz et al.). Early identification and repair of IAA can prevent severe morbidity and death. However, IAA is challenging to identify prenatally, or even in the neonatal period. In this study, we examined infants with IAA, diagnosed during pregnancy and prior to discharge (PPTD) from the birth hospital vs. those diagnosed following discharge (FD) from the newborn nursery. Our goals were to determine: (1) if early diagnosis improved outcomes; and (2) if patients with IAA and without 22q11.2DS had similar outcomes. In total, 135 patients with a diagnosis of 22q11.2DS and IAA were ascertained through the 22q and You Center at the Children\'s Hospital of Philadelphia (CHOP). The examined outcomes included: timing of diagnosis; age at diagnosis (days); hospital length of stay (LOS); duration of intensive care unit (ICU) stay; mechanical ventilation (days); duration of inotrope administration (days); year of surgical intervention; birth hospital trauma level; and overall morbidity. These outcomes were then compared with 40 CHOP patients with IAA but without 22q11.2DS. The results revealed that the PPTD neonates had fewer days of intubation, inotrope administration, and hospital LOS when compared to the FD group. The outcomes between deleted and non-deleted individuals with IAA differed significantly, in terms of the LOS (40 vs. 39 days) and time in ICU (28 vs. 24 days), respectively. These results support the early detection of 22q11.2DS via prenatal screening/diagnostics/newborn screening, as IAA can evade routine prenatal ultrasound and postnatal pulse oximetry. However, as previously reported in patients with 22q11.2DS and congenital heart disease (CHD), patients with 22q11.2DS tend to fare poorer compared to non-deleted neonates with IAA.
摘要：
主动脉弓（IAA）的中断是一种罕见但危及生命的先天性心脏缺陷，如果在新生儿期不纠正。IAAB型与22q11.2缺失综合征（22q11.2DS）高度相关；大约50％的IAAB型患者也患有22q11.2DS（Peyvandi等。；戈德蒙茨等人。).IAA的早期识别和修复可以预防严重的发病和死亡。然而,IAA在产前识别具有挑战性，甚至在新生儿期。在这项研究中,我们用IAA检查了婴儿，在怀孕期间和出院前(PPTD)从出生医院诊断那些在新生儿托儿所出院(FD)后被诊断的人。我们的目标是确定：（1）早期诊断是否改善了结果；（2）IAA和无22q11.2DS的患者是否具有相似的结果。总的来说,通过费城儿童医院（CHOP）的22q和You中心确定了135例诊断为22q11.2DS和IAA的患者。检查的结果包括：诊断时间；诊断年龄（天）；住院时间（LOS）；重症监护病房（ICU）住院时间；机械通气（天）；肌药给药时间（天）；手术干预年份；出生医院创伤水平；和总发病率。然后将这些结果与40例有IAA但无22q11.2D的CHOP患者进行比较。结果显示，PPTD新生儿插管天数较少，Inotrope管理，与FD组相比，医院LOS。IAA缺失和未缺失个体之间的结果差异显著，就LOS而言(40vs.39天）和在ICU的时间（28vs.24天),分别。这些结果支持通过产前筛查/诊断/新生儿筛查早期发现22q11.2DS，因为IAA可以逃避常规的产前超声和产后脉搏血氧饱和度。然而,如先前报道的22q11.2DS和先天性心脏病（CHD）患者，与未删除IAA的新生儿相比,22q11.2DS的患者往往表现较差.
