体外膜氧合(ECMO)对疑似新生儿遗传诊断为心肺衰竭。

Q2 Health Professions
Kelechi Ikeri, Vilmaris Quinones Cardona, Swosti Joshi, Ogechukwu Menkiti
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引用次数: 1

摘要

最近的数据描述了越来越多的使用体外膜氧合(ECMO)的新生儿除了主要的呼吸或心脏诊断的各种临床条件。以心肺衰竭为特征的潜在遗传疾病的婴儿提出了独特的管理挑战。当常见遗传诊断的病理畸形特征不存在时,在确定ECMO候选资格时,预后是不确定的。在ECMO过程中,基因检测的漫长周转时间往往会延迟最终诊断。缺乏指导实践的临床管理途径和支持在罕见遗传病中使用ECMO的证据。启动ECMO的决定是令人生畏的,但如果随后的基因诊断是非致命的,可能是有益的。在致命的遗传病例中,需要停止治疗,在ECMO上花费的时间可能仍然是有利的,作为诊断的桥梁,同时允许父母与绝症婴儿建立联系。诊断确认也可能有助于这些父母实现封闭。在这里,我们报告了我们对三名以心肺衰竭为表现,后来被诊断为罕见遗传综合征的新生儿进行ECMO的经验。我们分享这些危重新生儿面临的挑战、吸取的教训和结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Extracorporeal Membrane Oxygenation (ECMO) for suspected neonatal genetic diagnoses with cardiorespiratory failure.

Recent data describe an increasing use of extracorporeal membrane oxygenation (ECMO) in neonates with various clinical conditions besides primary respiratory or cardiac diagnoses. Infants with underlying genetic disorders characterized by cardiopulmonary failure pose unique management challenges. When pathognomonic dysmorphic features for common genetic diagnoses are not present, the prognosis is uncertain at best when determining ECMO candidacy. Lengthy turnaround times of genetic testing often delay definitive diagnosis during the ECMO course. Clinical management pathways to guide practice and evidence to support the use of ECMO in rare genetic conditions are lacking. The decision to initiate ECMO is daunting but may be of benefit if the subsequent genetic diagnosis is non-lethal. In lethal genetic cases warranting discontinuation of care, the time spent on ECMO may still be advantageous as a bridge to diagnosis while allowing for parental bonding with the terminally ill infant. Diagnostic confirmation may also facilitate the attainment of closure for these parents. Here, we report our experience providing ECMO to three neonates presenting with cardiorespiratory failure and later diagnosed with rare genetic syndromes. We share the challenges faced, lessons learned, and outcomes of these critically ill neonates.

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来源期刊
Journal of Extra-Corporeal Technology
Journal of Extra-Corporeal Technology Medicine-Medicine (all)
CiteScore
1.90
自引率
0.00%
发文量
12
期刊介绍: The Journal of Extracorporeal Technology is dedicated to the study and practice of Basic Science and Clinical issues related to extracorporeal circulation. Areas emphasized in the Journal include: •Cardiopulmonary Bypass •Cardiac Surgery •Cardiovascular Anesthesia •Hematology •Blood Management •Physiology •Fluid Dynamics •Laboratory Science •Coagulation and Hematology •Transfusion •Business Practices •Pediatric Perfusion •Total Quality Management • Evidence-Based Practices
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