新生儿先天性膈疝诊治析评

Progress in diagnosis and treatment of neonatal congenital diaphragmatic hernia

先天性膈疝(congenital diaphragmatic hernia,CDH)是指由于膈肌发育缺陷,腹腔内容物(如肝脏、胃泡等)突出到胸腔,伴发不同程度肺发育不良和肺动脉高压(pulmonary hypertension,PH)的一种疾病。随着产前筛查、诊断和预后相关因素识别评估等方面技术的进步,CDH的治疗方法得到了持续改进。出生后肺保护性通气、营养支持、预防感染以及早期积极管理PH和微创修补膈肌缺损等综合管理策略的实施,也使得CDH患者的预后得到了显著改善。同时,胎儿期干预,如胎儿镜下气管阻塞(fetal endoscopic tracheal occlusion,FETO)的临床研究在国际上逐渐开展,这也为CDH的治疗提供了极大的潜力。对于重度CDH患者,体外膜肺氧合(extracorporeal membrane oxygenation,ECMO)的应用近年在逐渐开展,但其远期预后尚不乐观,使用时机也尚未规范。此外,CDH患者的长期管理和预后改善需要多学科共同参与和监测,需要根据风险分层来进行指导。本文重点阐述CDH患者的病理生理改变、产前诊断与评估、胎儿期干预以及出生后诊治与综合管理方面的最新进展。

Congenital diaphragmatic hernia(CDH)is a diaphragmatic defect resulting in herniation of abdominal contents,e.g.liver and gastric alveoli,into the chest cavity.It can lead to varying degrees of pulmonary dysplasia and pulmonary hypertension(PH).With the advances in prenatal screening,diagnosis,and identification and evaluation of prognostic factors,the treatment of CDH has been constantly improved.The comprehensive management strategies of postnatal lung protective ventilation,nutritional support,infection prevention,early active management of PH,and minimally invasive surgery to repair diaphragmatic muscle defects have also significantly improved the prognosis of CDH.Fetal endoscopic tracheal obstruction(FETO)and other fetal interventions are undergoing clinical trials internationally,showing great potential for the treatment of CDH.Though extracorporeal membrane oxygenation(ECMO)is widely used for children with severe CDH,it has a barely optimistic long-term prognosis and lacks standardized description of application timing.Additionally,the long-term management and prognosis of CDH require multi-disciplinary participation,monitoring and risk stratification based guidance.This article provides a comprehensive review of the progress in CDH's pathophysiology,prenatal diagnosis,fetal intervention and optimal postpartum management.