141例羊水胎儿细胞嵌合体核型分析及其风险指征探索  

Mosaicism karyotype analysis of 141 cases of fetal cell in amniotic fluid and exploration of its risk indications

作　　者：李南 王立芝 Li Nan;Wang Lizhi

机构地区：[1]电子科技大学医学院附属妇女儿童医院·成都市妇女儿童中心医院产前诊断科,四川成都610091 [2]四川省妇幼保健院妇女保健科,四川成都610045

出　　处：《中国计划生育和妇产科》2021年第10期90-92,96,共4页Chinese Journal of Family Planning & Gynecotokology

摘　　要：目的分析羊水胎儿细胞嵌合体核型在产前诊断病例中的分布情况及与产前诊断指征的相关性,探讨其发生可能的危险因素。方法收集2010年1月至2020年5月在成都市妇女儿童中心医院行羊水穿刺染色体核型分析的26477例孕妇的病历资料,分析核型异常在不同产前诊断指征组中的分布情况、胎儿嵌合体核型异常的构成和发生情况、以及嵌合体核型异常与产前诊断指征的相关性。结果26477例中共检出异常核型844例,检出率3.19%,其中嵌合体异常141例,占16.7%;141例嵌合体异常按诊断指征有49例高龄、55例血清筛查高风险、31例B超异常、14例其他,按构成有70例性染色体异常、58例常染色体异常、13例标记染色体,其中性染色体异常及45,X的构成比显著高于非嵌合体核型异常组;Logistic逐步回归结果显示,B超异常、孕妇低智或夫妻一方染色体异常携带、高龄+血清筛查高危的风险比分别是1.91、3.99和7.55。结论嵌合体以性染色体数目异常多见,尤其是45,X嵌合;高龄+血清筛查高危、B超异常、孕妇低智或夫妻一方染色体异常与检出嵌合体相关,可能是其发生的危险因素。Objective To analyze the distribution of mosaicism karyotypes of fetal cell in amniotic fluid in prenatal diagnosis cases and its correlation with prenatal diagnosis indications,and to explore the possible risk factors of its occurrence.Methods The medical records of 26477 pregnant women who underwent amniocentesis karyotype analysis in Chengdu Women’s and Children’s Central Hospital from January 2010 to May 2020 were collected.The distribution of abnormal karyotypes in different groups of prenatal diagnosis indications,the composition and occurrence of fetal chimeric karyotype abnormalities,and the correlation between chimeric karyotype abnormalities and prenatal diagnosis indications were analyzed.Results A total of 844 abnormal karyotypes were detected in 26477 cases,with a detection rate of 3.19%,141 cases(16.7%)were abnormal mosaicism karyotype.Their diagnosis indications contained advanced age(49 cases),high risk of serum screening(55 cases),B-ultrasound abnormalities(31 cases)and others(14 cases).The abnormal mosaicism karyotypes consisted of sex chromosome abnormalities(70 cases),autosomal abnormalities(58 cases)and marker chromosomes(13 cases).The constituent ratios of abnormal sex chromosome and 45,X abnormality among them were significantly higher than those of non-chimeric karyotype group.Logistic stepwise regression revealed the risk ratios of abnormal B-ultrasound signs,low intelligence of pregnant women or abnormal carrier of chromosome in parents,and elderly+high-risk serum screening were 1.91,3.99 and 7.55,respectively.Conclusion Most of the chimeras were abnormal numbers of sex chromosome,especially 45,X.Elderly+high-risk serum screening,abnormal B-ultrasound signs and low intelligence of pregnant women or chromosomal abnormality of the parents might be the risk factors.

关 键 词：产前诊断 核型分析 嵌合体 

分 类 号：R714[医药卫生—妇产科学]