11例胎儿先天性膈疝的产前诊断和围生期处理

目的：探讨胎儿先天性膈疝(congenital diaphragmatic hernia，CDH)产前诊断和围生期管理，完善此类疾病的临床处理路径，达到优生优育的目的。方法：超声诊断为胎儿CDH的孕妇11例，依据超声明确孕龄，并行胎儿染色体核型分析检查，排除染色体异常。诊断明确后综合评估胎儿宫内风险、出生后风险、膈疝修补术后预后情况等，根据患者及家属意见确定是否继续妊娠，统计妊娠结局。结果：本组中，除1例孕期拒绝行染色体核型分析外，其余10例行染色体核型分析均未见异常；11例中，10例确诊为CDH，1例未见异常，孕期超声诊断CDH准确率为90.9%；对于确诊病例进行产前咨询和评估，与家属沟通后，4例(40.0%)自愿选择引产终止妊娠，其中1例尸检证实膈疝合并脊柱畸形，其余3例均拒绝尸检；另外6例(60.0%)选择继续妊娠，其中1例新生儿出生后即出现重度窒息，家属放弃抢救，5例产后即转入小儿心胸外科。转科的5例中，其中1例因先天性膈疝的症状轻，暂无手术指征，继续观察正常后出院，其余4例待其呼吸循环功能改善后(3～5d)，行膈疝修补术，5例随访均良好。结论：通过早期准确诊断、多学科协作并且充分评估，患者配合完善产前各项检查，及时进行医患沟通，适宜的产时、产后处理与监护，定期随访，尽可能完善此类疾病的临床处理路径，才能改善CDH胎儿的围生期和婴幼儿期结局，降低新生儿的病死率。

Prenatal diagnosis and perinatal treatment of 11 cases of fetal congenital diaphragmatic hernia

Objective: To investigate the meanings of prenatal diagnosis and perinatal management of fetal congenital diaphragmatic hernia (CDH) and complete protocol of these diseases in order to achieve prenatal and postnatal care. Methods: A retrospective analysis of 11 cases of CDH fetuses was diagnosed by ultrasound from May 2013 to 2016 April in our hospital. Definite gestational age was based on ultrasound, and fetal karyotype analysis was to exclude chromosomal abnormalities. After definite diagnosis, many multidisciplinary professionals were involved in the comprehensive assessment of intrauterine fetal risk, risk after birth, prognosis after surgical repairment of diaphragmatic hernia, and according to the patient and family consideration, the decision was made about whether or not to continue with the pregnancy and analyze pregnancy outcome. Results: From 11 cases of CDH which were diagnosed by ultrasound, we exclude 1 case because of refusal from the mother to do fetal karyotype analysis, and the remaining 10 karyotype analysis showed no abnormality; at the same time, these 11 cases had gone through multidisciplinary consultation, in the end 10 cases of CDH were definite diagnosis, 1 case showed no abnormality, the accuracy rate of ultrasound diagnosis of CDH was 90.9%; within 10 cases, after multidisciplinary approach according to fetal growth condition (including hernia location, size, hernia content, pulmonary pressure and other predisposition), and various social factors (economic condition and family factors), prenatal consultation and assessment of the fetus, and after communicate with family members, there were 4 cases (40%) that chose abortion to terminate pregnancy, within these cases, 1 case were confirmed diaphragmatic hernia with spinal deformity complication through autopsy, the remaining 3 cases refused to do autopsy; another 6 cases (60%) chose to continue pregnancy, within these cases, 1 case showed severe neonatal asphyxia after birth and the family gave up the rescue, the rest 5 cases showed immediate transfer to cardiothoracic surgery department after birth. Within the 5 cases of transferring to cardiothoracic surgery department, 1 case showed mild symptom of congenital diaphragmatic hernia that required no surgical indications. After condition stabilized, families requested to leave the hospital. The other 4 cases waited until the improvement of respiratory function (3 to 5 days) and then did the surgical repairment. All the follow-up after surgical operation showed good results. Conclusion: Prenatal diagnosis and perinatal management of CDH need multidisciplinary approach (fetal medicine, genetics, imaging, neonatology and pediatric surgery, etc.) together. Only through early and accurate diagnosis, multidisciplinary collaboration, patients coordination, good prenatal examinations, good communication between doctors and patients, post natal treatment and monitoring, regular follow-up, to complete protocol of this disease, in order to improve perinatal and infant outcomes in fetuses with CDH, and reduce the neonatal mortality rate.