摘要
【目的】探讨非免疫性胎儿水肿(NIHF)的超声特征及病因学分布情况。【方法】纳入2012年12月至2019年1月就诊于中山大学附属第一医院产前超声诊断为NIHF病例232例,回顾性分析其超声特征及病因学分布情况。【结果】①NIHF最常见于TTTSⅣ期(50/232,21.55%);最常见超声水肿的部位为皮肤水肿(159/232,68.53%);最常合并的畸形为心血管系统异常(15/232,6.47%)。NIHF的活产率为31.47%。②185例行产前遗传学检测的病例中,异常检出率40.54%(75/185),行染色体检查(包括染色体核型分析、染色体微阵列分析)的异常检出率26.49%(49/185),孤立性NIHF的异常检出率低于非孤立性NIHF的异常检出率(32.64%vs.68.29%,P<0.05)。仅行染色体核型分析的异常检出率24.56%(14/57);仅行染色体微阵列分析(CMA)的异常检出率41.94%(13/31);同时行染色体核型分析及CMA的异常检出率25%(22/88),其中染色体核型分析检出异常3例(3.41%),CMA检出异常6例(6.82%),CMA较染色体核型分析额外检出3例(3.41%),染色体核型分析及CMA均检出变异13例(14.77%)。本研究中染色体核型分析异常检出率20.69%(30/145),最常见的染色体异常是45,X(19/145,占13.10%),其次是47,XX,+21/47,XY,+21(3/145,2.07%),染色体微阵列分析异常检出率26.89%(32/119),其中拷贝数变异(CNVs)占10.08%(12/119),包括致病性CNVs 4例(3.36%,4/119)。行基因检测病例中最常见异常是α地中海贫血--^(SEA)/--^(SEA)21例(21/26,80.77%),其次是PTPN11基因突变2例(2/26,7.69%)。③遗传学未检出异常的NIHF病因有胎母输血、感染及不明原因的贫血。【结论】本中心NIHF最常见于TTTSⅣ期,最常合并的畸形为心血管系统异常,最常见的异常染色体核型是45,X;CMA较染色体核型分析额外检出率3.41%;最常见的单基因病是α地中海贫血--^(SEA)/--^(SEA)。非孤立性NIHF的遗传学异常检出率更高。
【Objectives】To investigate the ultrasound features and etiological distribution of non-immune hydrops fe⁃talis.【Methods】A total of 232 cases of diagnosed non-immune hydrops fetalis were recruited from December 2012 to Janu⁃ary 2019 in The First Affiliated Hospital of Sun Yat-sen University.The ultrasound features and the results of prenatal diagnosis of hydrops fetalis were retrospectively analyzed.【Results】1.Non-immune hydrops fetalis was often associated with TTTS stageⅣ(50/232,21.55%);skin edema(159/232,68.53%)was the mostly identified fluid collection;the most frequently combined malformations were anomalies of the cardiovascular system(15/232,6.47%).2.Totally 185 cases ac⁃cepted further prenatal genetic test and the abnormal detection rate was 40.54%(75/185),while the abnormal detection rate of chromosome examination(including chromosome karyotype analysis and CMA)was 26.49%(49/185).The abnor⁃mal detection rate of isolated NIHF was lower than that of non-isolated NIHF(32.64%vs 68.29%,p<0.05).Chromosome karyotype analysis was only performed in 57 cases,and abnormalities were detected in 14 cases(24.56%).CMA only was performed in 31 cases and abnormalities were detected in 13 cases(41.94%).Both Chromosome karyotype analysis and CMA were performed in 88 cases.Variation was detected in 22 cases(25%),3 cases(3.41%)showed abnormalities de⁃tected only by Chromosome karyotype analysis,while 6 cases(6.82%)had abnormalities detected only by CMA.The extra detection rate of CMA was 3.41%(3 cases)compared with Chromosome karyotype analysis.Variation was both detected by Chromosomal karyotype analysis and CMA in 13 cases(14.77%).In this study,30 cases of variation were detected by Chromosomal karyotype analysis(30/145,20.69%).The most common was 45,X(19/145,13.10%),followed by 47,XX,+21/47,XY,+21(3/145,2.07%).CMA detected 32 cases of variation,including 12 cases of CNVs(10.08%),4 of which were pathogenic CNVs(3.36%).Genetic analysis detected abnormalities in 26 of 27 cases.The most common abnormali
作者
刘权瑞
徐琦
赵婧雅
李丹伦
刘婧宇
周祎
LIU Quan-rui;XU Qi;ZHAO Jing-ya;LI Dan-lun;LIU Jing-yu;ZHOU Yi(Center of Fetal Medicine,Department of Obstetrics,the First Affiliated Hospital of Sun Yat-sen University,Guang-zhou 510080,China;Department of Obstetrics and Gynecology,Sun Yat-sen Memorial Hospital,Sun Yat-sen Univer-sity,Guangzhou 510120,China)
出处
《中山大学学报（医学科学版）》
CAS
CSCD
北大核心
2022年第5期757-763,共7页
Journal of Sun Yat-Sen University:Medical Sciences
基金
国家重点研发计划(2018YFC1002900)
广东省重点领域研发计划项目(2019B020227001)。
关键词
非免疫性胎儿水肿
超声检查
染色体核型
染色体微阵列
non-immune hydrops fetalis
ultrasonography
chromosome karyotype
chromosome microarray
