【摘要】 目的 探讨产前诊断先天性膈疝(congenital diaphragmatic hernia, CDH)的转运救治机制与临床实践效果。方法 首都儿科研究所附属儿童医院与北京市及周边地区8家产前诊断中心建立合作网，以2018年1月至2020年12月期间在合作网接受产前咨询的CDH孕妇为研究对象。产前转运救治机制包括：产前以新生儿外科与产科为主导，协同超声影像科、遗传科组成专家小组进行不定期多学科会诊，对产前发现畸形患儿的诊断与预后进行评估；同时对分娩时间、分娩方式、出生后处置及转运、治疗等问题进行商讨，初步确定病情危重程度，分析出生后可能出现的风险，制定最优个性化诊疗方案。结果 共88例CDH孕妇接受产前咨询，最终经绿色通道转运收治63例。63例中，男41例，女22例；足月儿52例，早产儿11例(中位出生胎龄34周);出生体重(2 978.73±607.69)g;产时气管插管22例(34.9%),产房内高频呼吸机辅助呼吸22例(34.9%)。9例二氧化碳分压大于70 mmHg, 54例小于70 mmHg。产前评估为重度CDH 31例，中度CDH 32例。产前诊断孕周(27.69±5.33)周。左侧膈疝53例，右侧膈疝10例。肝脏疝入15例。58例行手术治疗，术后存活率为87.9%(51/58);5例产前评估为极重度膈疝，出生后虽经全面抢救仍无法改变呼吸循环衰竭状态而死亡。58例采用手术治疗的患儿中，开放手术8例(13.8%),腔镜手术50例(86.2%);无疝囊35例，有疝囊23例；术中发现B级缺损20例(34.5%),C级和D级缺损共38例(65.5%)。使用补片修补膈肌者占10.3%(6/58)。结论 先天性膈疝治疗水平的提升有赖于产科、儿科密切合作。新生儿外科专业转运团队在产前参与诊断和评估、产时进驻产房共同完成生后抢救及转运工作、以及后续有效的手术治疗和围术期管理，对改善先天性膈疝患者预后有着积极的作用。更多还原

【Abstract】 Objective To explore the operative and practical outcomes of transfer and treatment mechanism of congenital diaphragmatic hernia(CDH). Methods A cooperative network was established with 8 prenatal diagnosis centers in Beijing and surrounding areas.A total of 88 pregnant women received prenatal consultations of CDH from January 2018 to December 2020 and 63 CDH children were eventually transported through a green channel.The prenatal panel was dominated by neonatal surgery and obstetrics and an expert team coordinated with ultrasonic imaging and genetics for irregular multidisciplinary consultations on diagnosing and evaluating the prognosis of abnormalities.At the same time, delivery time, delivery mode, postnatal treatment and transportation, treatment and other issues were discussed, disease severity was initially determined, the potential postnatal risks were analyzed and an optimized personalized management plan was formulated. Results There were 41 boys and 22 girls.They were full-term(n=52) and premature(n=11).The median gestational age at birth was 34 weeks.Body weight was(2978.73±607.69) gram; 22 cases(34.9%) were intubated during delivery and 22 cases(34.9%) utilized a high-frequency ventilator in delivery room.The partial pressure of carbon dioxide was >70 mmHg(n=9) and <70 mmHg(n=54).The prenatal severity of CDH was severe(n=31) and moderate(n=32).The gestational week of prenatal diagnosis was(27.69±5.33) weeks.The involved side was left(n=53) and right(n=10).Fifteen cases were associated with liver herniation.Fifty-eight cases were operated with a postoperative survival rate of 87.9%(51/58).Five cases of prenatal evaluation revealed extremely severe diaphragmatic hernia.Despite comprehensive postnatal rescue, respiratory and circulatory failure occurred.Among 58 operated children, open surgery(n=8,13.8%) and laparoscopy(n=50,86.2%) were performed; hernia sacs was absent(n=35) and present(n=23) and 20 cases(34.5).The defect grade was B(n=20,34.5%) and C/D(n=38,65.5%).Patch repairing accounted for 10.3%(6/58). Conclusion The heightened treatment level of CDH depends upon a close cooperation of obstetrics and pediatrics, a dedicated professional transfer team of neonatal surgery in prenatal diagnosis and evaluation, delivery room assistance during delivery to complete postnatal rescue and transfer work and subsequent perioperative surgical management.These measures are essential for improving the prognosis of CDH.更多还原