11例胎儿先天性膈疝的产前诊断和围生期处理

发布时间：2019-01-13 10:05

【摘要】：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。
[Abstract]:Objective: to explore the prenatal diagnosis and perinatal management of fetal congenital diaphragmatic hernia (congenital diaphragmatic hernia,CDH), and to improve the clinical management of these diseases. Methods: eleven pregnant women with fetal CDH diagnosed by ultrasound were confirmed their gestational age according to ultrasound, and chromosomal abnormalities were excluded by karyotype analysis of fetal chromosomes. The fetal intrauterine risk postnatal risk and prognosis after diaphragmatic herniorrhaphy were comprehensively evaluated after diagnosis. According to the opinion of the patient and the family the pregnancy was determined and the pregnancy outcome was counted. Results: except for one patient who refused to perform chromosome karyotype analysis during pregnancy, no abnormal karyotype analysis was found in the other 10 cases, 10 of 11 cases were diagnosed as CDH,1, and the accuracy of ultrasound diagnosis of CDH during pregnancy was 90.9%. After antenatal consultation and evaluation, 4 cases (40.0%) voluntarily chose induced abortion to terminate pregnancy. One case confirmed diaphragmatic hernia with spinal malformation by autopsy, and 3 cases refused autopsy. The other 6 cases (60.0%) chose to continue pregnancy, of which 1 case had severe asphyxia after birth, and 5 cases were transferred to pediatric cardiothoracic surgery after delivery. Of the 5 cases who were transferred to the department, 1 case had mild symptoms of congenital diaphragmatic hernia and had no indication of operation. The remaining 4 cases were treated with diaphragm herniorrhaphy after improving their respiratory and circulatory function (3 ~ 5 days), and 5 cases were followed up well. Conclusion: through early accurate diagnosis, multi-disciplinary cooperation and full evaluation, patients cooperate and improve prenatal examination, timely communication between doctors and patients, appropriate delivery time, postpartum treatment and monitoring, and regular follow-up. The perinatal and infant outcome of CDH can be improved and the neonatal mortality can be reduced by perfecting the clinical treatment path of these diseases as far as possible.
【作者单位】：南京医科大学第一附属医院产科;
【基金】：国家自然科学基金(81470065)
【分类号】：R714.5

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