北京市2018年至2022年先天性膈疝的流行病学现状及婴儿期转归  

Epidemiological status and infant outcomes of congenital diaphragmatic hernia in Beijing from 2018 to 2022

作　　者：张雯[1] 徐宏燕[1] 陈笑征 张彦春[1] 刘凯波[1] Zhang Wen;Xu Hongyan;Chen Xiaozheng;Zhang Yanchun;Liu Kaibo(Department of Perinatal Health,Beijing Obstetrics and Gynecology Hospital,Capital Medical University/Beijing Maternal and Child Health Care Hospital,Beijing 100026,China)

机构地区：[1]首都医科大学附属北京妇产医院/北京妇幼保健院围产保健科,北京100026

出　　处：《中华围产医学杂志》2024年第12期1001-1006,共6页Chinese Journal of Perinatal Medicine

基　　金：高层次公共卫生技术人才培养计划(2022-2-028)。

摘　　要：目的分析北京市胎儿先天性膈疝(congenital diaphragmatic hernia,CDH)的流行病学及婴儿期转归现状。方法以2018年1月至2022年12月北京市出生缺陷监测系统纳入监测的877230例胎儿/婴儿中确诊为CDH的病例为研究对象,回顾性分析CDH发生、出生前诊断及婴儿死亡等数据资料。采用的统计学方法为χ^(2)检验(或Fisher精确概率法)。结果(1)共254例CDH患儿进入本研究。研究期间CDH全孕期发生率和围产期发生率分别为0.29‰(254/877230)和0.17‰(153/877230)。(2)254例中,79例(31.1%)接受了产前遗传学诊断,其中5例(6.3%)合并拷贝数变异(包括1例可能致病性变异,4例未报告变异类型)。各年度产前遗传学诊断比例差异无统计学意义(χ^(2)趋势=2.86,P=0.091)。241例的出生前诊断胎龄为(23.0±6.4)周,范围为13~38周;其中130例(53.9%)在胎龄25周前诊断。超声诊断胎龄<25周组(43.1%,56/130)遗传学诊断比例高于≥25周组(20.7%,23/111)(χ^(2)=12.59,P<0.001)。(3)共146例活产,其中出生前诊断CDH后继续妊娠至活产分娩的比例为55.2%(133/241),各年度差异无统计学意义。孤立性CDH组出生前诊断后继续妊娠至活产的比例为64.5%(100/155),高于非孤立性CDH组的38.3%(33/86)(χ^(2)=15.57,P<0.001)。诊断CDH胎龄<25周者的活产率(26.2%,34/130)低于胎龄≥25周者(89.2%,99/111)(χ^(2)=93.67,P<0.001)。(4)146例活产婴儿中,28例(19.2%)在婴儿期死亡。这28例均在出生前诊断为CDH。在三级助产机构出生的CDH患儿病死率(17.9%,24/134)低于二级机构(4/12),但差异未见统计学意义(Fisher精确概率法,P=0.245)。118例存活患儿中,7例放弃治疗,其余111例中的104例(93.7%)由首都儿科研究所附属儿童医院收治。该单位婴儿期病死率(15.4%,16/104)低于其他机构(3/7),但差异未见统计学意义(Fisher精确概率法,P=0.096)。CDH诊断胎龄<25周者婴儿期病死率(38.2%,13/34)高于诊断胎龄≥25周者(15.2%,15/99)(χ^(2)=6.78,P=0.009)。�ObjectiveTo analyze the epidemiology,and infant outcomes of congenital diaphragmatic hernia(CDH)in Beijing.MethodsThis retrospective study involved cases diagnosed with CDH among 877230 fetuses/infants monitored by the Beijing Birth Defects Monitoring System from January 2018 to December 2022.Data on the occurrence of CDH,prenatal diagnosis,and infant mortality were analyzed.The statistical method was the Chi-square test(or Fisher's exact test).Results(1)A total of 254 CDH cases were included in this study.During the study period,the incidence of CDH throughout the pregnancy and the perinatal period was 0.29 per thousand(254/877230)and 0.17 per thousand(153/877230),respectively.(2)Among the 254 cases,79(31.1%)underwent prenatal genetic diagnosis,6.3%(5/79)copy number varations were detected,including one case of like pathogenic and four cases with types of variation unreported.The proportions of prenatal genetic diagnosis from 2018 to 2022 showed no statistically significant difference(χ^(2) trend=2.86,P=0.091).The gestational age at prenatal diagnosis for 241 cases was(23.0±6.4)weeks,ranging from 13 to 38 weeks;130 cases(53.9%)were diagnosed before 25 weeks of gestation.The proportion of genetic diagnosis was higher in the group diagnosed by ultrasound before 25 weeks(43.1%,56/130)compared to the group diagnosed at or after 25 weeks(20.7%,23/111)(χ^(2)=12.59,P<0.001).(3)A total of 146 live births were recorded,with the proportion of continuing pregnancy to live birth after prenatal diagnosis being 55.2%(133/241),with no significant difference across the years.The proportion of continuing pregnancy to live birth after prenatal diagnosis in the isolated CDH group was 64.5%(100/155),higher than the 38.3%(33/86)in the non-isolated group(χ^(2)=15.57,P<0.001).The live birth rate for those diagnosed prenatally at<25 weeks of gestation(26.2%,34/130)was lower than for those diagnosed at≥25 weeks of gestation(89.2%,99/111)(χ^(2)=93.67,P<0.001).(4)Among the 146 live-born infants,28(19.2%)died during infancy.All 28 c

关 键 词：先天性膈疝 发生率 产前诊断 婴儿死亡 

分 类 号：R181.3[医药卫生—流行病学] R714.5[医药卫生—公共卫生与预防医学]