【摘要】：目的:探討胎兒先天性膈疝(congenital diaphragmatic hernia,CDH)產(chǎn)前診斷和圍生期管理,完善此類疾病的臨床處理路徑,達(dá)到優(yōu)生優(yōu)育的目的。方法:超聲診斷為胎兒CDH的孕婦11例,依據(jù)超聲明確孕齡,并行胎兒染色體核型分析檢查,排除染色體異常。診斷明確后綜合評(píng)估胎兒宮內(nèi)風(fēng)險(xiǎn)、出生后風(fēng)險(xiǎn)、膈疝修補(bǔ)術(shù)后預(yù)后情況等,根據(jù)患者及家屬意見確定是否繼續(xù)妊娠,統(tǒng)計(jì)妊娠結(jié)局。結(jié)果:本組中,除1例孕期拒絕行染色體核型分析外,其余10例行染色體核型分析均未見異常;11例中,10例確診為CDH,1例未見異常,孕期超聲診斷CDH準(zhǔn)確率為90.9%;對(duì)于確診病例進(jìn)行產(chǎn)前咨詢和評(píng)估,與家屬溝通后,4例(40.0%)自愿選擇引產(chǎn)終止妊娠,其中1例尸檢證實(shí)膈疝合并脊柱畸形,其余3例均拒絕尸檢;另外6例(60.0%)選擇繼續(xù)妊娠,其中1例新生兒出生后即出現(xiàn)重度窒息,家屬放棄搶救,5例產(chǎn)后即轉(zhuǎn)入小兒心胸外科。轉(zhuǎn)科的5例中,其中1例因先天性膈疝的癥狀輕,暫無手術(shù)指征,繼續(xù)觀察正常后出院,其余4例待其呼吸循環(huán)功能改善后(3~5d),行膈疝修補(bǔ)術(shù),5例隨訪均良好。結(jié)論:通過早期準(zhǔn)確診斷、多學(xué)科協(xié)作并且充分評(píng)估,患者配合完善產(chǎn)前各項(xiàng)檢查,及時(shí)進(jìn)行醫(yī)患溝通,適宜的產(chǎn)時(shí)、產(chǎn)后處理與監(jiān)護(hù),定期隨訪,盡可能完善此類疾病的臨床處理路徑,才能改善CDH胎兒的圍生期和嬰幼兒期結(jié)局,降低新生兒的病死率。
[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.
【作者單位】： 南京醫(yī)科大學(xué)第一附屬醫(yī)院產(chǎn)科;
【基金】：國家自然科學(xué)基金(81470065)
【分類號(hào)】：R714.5

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