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目的探讨胎儿水肿综合征与染色体异常的相关性,评价染色体检查在孕中晚期胎儿水肿查因中的应用价值,为临床遗传咨询提供参考指导。方法对174例产前超声筛查发现患胎儿水肿综合征的孕妇进行侵入性产前诊断,取羊水或脐带血进行细胞培养,制备染色体进行核型分析。结果总计174例样本,除7例细胞培养失败外,其余167例可以成功进行核型分析,共检出异常染色体核型52例,异常核型检出率为31.14%(52/167)。52例异常核型中21三体和18三体各9例,分别占异常核型比17.31%(9/52);13三体综合征4例,占比7.69%(4/52);特纳综合征26例(其中包括25例45,X和1例嵌合型45,X/46,XX)占50%(26/52);其他类型异常4例,占异常比7.69%。结论染色体异常与胎儿水肿有着非常密切的相关性,胎儿染色体检查可作为查找胎儿水肿原因的重要有效诊断手段,为临床提供参考。
Objective To explore the correlation between fetal edema syndrome and chromosomal abnormalities and to evaluate the value of chromosomal examination in the investigation of fetal edema in the second trimester of pregnancy so as to provide reference guidance for clinical genetic counseling. Methods A total of 174 pregnant women with fetal edema syndrome were diagnosed by prenatal ultrasound screening for invasive prenatal diagnosis. Amniotic fluid or umbilical cord blood was used for cell culture. The chromosomes were analyzed for karyotype. Results A total of 174 samples were obtained, of which 167 were unsuccessful in karyotype analysis except for 7 cases of cell culture. Totally, 52 cases of abnormal karyotype were detected, and the rate of abnormal karyotype was 31.14% (52/167). There were 9 cases of 21 trisomy and 18 trisomy in 52 cases of abnormal karyotype, accounting for 17.31% (9/52) respectively; 4 cases of trisomy 13, accounting for 7.69% (4/52) Among them, 25 (45 cases, 45 cases, X and 1 cases of chimerism 45, X / 46, XX) accounted for 50% (26/52). Other types of abnormalities were found in 4 cases, accounting for 7.69% of the total. Conclusion There is a very close relationship between chromosomal abnormalities and fetal edema. Fetal chromosome examination can be used as an effective diagnostic tool to find the cause of fetal edema and provide reference for clinical practice.