先天性膈疝胎儿的分子细胞遗传学分析与临床结局  

Molecular cytogenetic analysis and clinical outcomes of fetuses with congenital diaphragmatic hernia

作　　者：李彦霖 潘敏 徐素婷 李茹 韩瑾 钟惠珠 景象一 钟微 李东至 Li Yanlin;Pan Min;Xu Suting;Li Ru;Han Jin;Zhong Huizhu;Jing Xiangyi;Zhong Wei;Li Dongzhi(Prenatal Diagnostic Center,Guangzhou Medical University Affiliated Women and Children's Medical Center,Guangzhou 510623,China;Department of Gynecology and Obstetrics,Guangzhou First People's Hospital,Guangzhou 510180,China;Department of Neonatal Surgery,Guangzhou Medical University Affiliated Women and Children's Medical Center,Guangzhou 510623,China)

机构地区：[1]广州医科大学附属妇女儿童医疗中心产前诊断中心,广州510623 [2]广州市第一人民医院妇产科,广州510180 [3]广州医科大学附属妇女儿童医疗中心新生儿外科,广州510623

出　　处：《中华围产医学杂志》2024年第12期993-1000,共8页Chinese Journal of Perinatal Medicine

基　　金：广州市科学技术局2023年市校(院)企联合资助项目(2023A03J0874);广州医科大学科研能力提升项目(02-410-2302142XM)。

摘　　要：目的探讨先天性膈疝(congenital diaphragmatic hernia,CDH)的临床结局与染色体异常的相关性。方法回顾性研究2010年1月1日至2021年12月31日在广州医科大学附属妇女儿童医疗中心产前诊断中心因CDH进行介入性产前诊断及染色体分析的101例胎儿。根据超声结果将研究对象分为单纯型CDH组和复合型CDH组。分析这些胎儿的染色体核型分析或染色体微阵列分析(chromosomal microarray analysis,CMA)结果,以及出生结局。对于活产患儿,分析随访结果。采用t检验或χ^(2)检验(或Fisher精确概率法)进行统计学分析。结果(1)101例胎儿母亲的平均预产期年龄(29.6±5.3)岁,范围为20~47岁;其中超过35岁者16例(15.8%)。行介入性产前诊断的平均孕周为(27.1±5.0)周,范围为13周+3~38周+3;首次诊断CDH的平均孕周为(26.6±4.8)周,范围为13周+3~38周+3。(2)101例胎儿根据是否合并其他超声异常,分为单纯型(81例,80.2%)和复合型(20例,19.8%)。20例复合型胎儿中,13例合并≥2种畸形,其中最常见为心血管系统畸形(11例次,其中7/11为染色体异常)。合并中枢神经系统畸形的胎儿染色体异常的比例最高(3/4)。(3)101例CDH胎儿中,31例(30.7%)仅接受染色体核型分析,39例(38.6%)仅接受CMA,31例(30.7%)同时接受上述2项检测。染色体异常率为13.9%(14/101)。染色体核型分析和CMA的异常检出率分别为16.1%(10/62)和14.3%(10/70)。CMA的额外检出率为2.8%(2/70)。(4)复合型CDH组的诊断孕周早于单纯型CDH组[(22.7±4.2)周与(27.7±4.6)周,t=4.47,P<0.001]。复合型CDH组的总检出率,以及染色体核型分析和CMA的检出率均高于单纯型CDH组[分别为45.0%(9/20)与6.2%(5/81),χ^(2)=17.13;7/15与6.4%(3/47),χ^(2)=10.82;5/11与8.8%(5/57),χ^(2)=7.55;P值均<0.01]。(5)101例CDH胎儿中,2例失访,成功随访99例(98.0%)。这99例中,48例引产,51例活产。48例引产胎儿的染色体异常率为25.0%(12/48);28例为单纯型,20例为复合型。51例活产�ObjectiveTo investigate the correlation between clinical outcomes of congenital diaphragmatic hernia(CDH)and chromosomal abnormalities.MethodsThis was a retrospective study involving 101 fetuses who underwent invasive prenatal diagnosis and chromosomal analysis for CDH at the Prenatal Diagnosis Center of Guangzhou Medical University Affiliated Women and Children's Medical Center from January 1,2010,to December 31,2021.According to ultrasound results,they were divided into the isolated CDH group and the complex CDH group.The results of chromosomal karyotype analysis or chromosomal microarray analysis(CMA)and birth outcomes were analyzed.For live-born children,follow-up results were analyzed.Statistical analysis was performed using t-test or Chi-square(or Fisher's exact)test.Results(1)The mean age of the mothers of the 101 fetuses was(29.6±5.3)years,ranging from 20 to 47 years,and 16 mothers(15.8%)were over 35 years old.The mean gestational age at invasive prenatal diagnosis was(27.1±5.0)weeks,ranging from 13 weeks and 3 days to 38 weeks and 3 days;the mean gestational age at first diagnosis of CDH was(26.6±4.8)weeks,ranging from 13 weeks and 3 days to 38 weeks and 3 days.(2)The 101 fetuses were divided into isolated CDH group(81 cases,80.2%)and complex CDH group(20 cases,19.8%)based on whether they had other ultrasound abnormalities.Among the 20 complex cases,13 had more than two types of malformations,with cardiovascular system malformations being the most common(11 cases,including seven chromosomal abnormalities).The highest proportion of chromosomal abnormalities was found in fetuses with central nervous system malformations(3/4).(3)Among the 101 CDH fetuses,31(30.7%)underwent chromosomal karyotype analysis alone,39(38.6%)underwent CMA alone,and 31(30.7%)underwent both tests.The rate of chromosomal abnormalities was 13.9%(14/101).The detection rates of abnormalities by chromosomal karyotype analysis and CMA were 16.1%(10/62)and 14.3%(10/70),respectively.The additional detection rate by CMA was 2.8%(2/70).(4)

关 键 词：先天性膈疝 产前诊断 微阵列分析 染色体核型分析 临床结局 

分 类 号：R714.5[医药卫生—妇产科学]