羊水产前诊断胎儿性染色体异常362例分析  

Prenatal diagnosis of fetal sex chromosome abnormalities in amniotic fluid:An analysis of 362 cases

作　　者：王芳[1] 任慧颖 梁思颖 李朔[1] WANG Fang;REN Huiying;LIANG Siying;LI Shuo(Gene Testing Center of Qingdao University Affiliated Women and Children’s Hospital,Qingdao 266034,China)

机构地区：[1]青岛大学附属妇女儿童医院基因检测中心,山东青岛266034

出　　处：《青岛大学学报（医学版）》2024年第4期611-614,共4页Journal of Qingdao University(Medical Sciences)

基　　金：青岛市医药卫生科研指导计划(2018-WJZD093)。

摘　　要：目的分析产前诊断胎儿性染色体异常结果,探讨无创产前检测(NIPT)、荧光原位杂交技术(FISH)、染色体核型分析、微阵列芯片技术(CMA)等联合应用的优势。方法收集2018-2022年于我中心行孕中期羊膜腔穿刺术的孕妇资料,对性染色体异常的结果进行统计分析。结果行羊水分析15224例,检出性染色体异常362例(2.4%),包括非整倍体异常305例(84.3%)与结构异常(含嵌合异常)57例(15.7%)。不同产前诊断指征孕妇染色体异常检出率差异具有统计学意义(P<0.001),其中NIPT提示性染色体异常孕妇的检出率为48.37%。47,XXY的检出率在不同年龄组间的差异有统计学意义(χ^(2)=4.97,P<0.05)。多种技术联合应用将复杂异常检出率由2.1%提高到了2.4%。结论NIPT检测对于筛查胎儿性染色体异常具有显著意义。羊水产前诊断性染色体异常主要为数目及嵌合体异常,其中47,XXY与年龄因素显著相关。染色体核型分析联合FISH及CMA检测有助于复杂性染色体异常的明确诊断。Objective To investigate the results of fetal sex chromosome abnormalities based on prenatal diagnosis and the advantages of the combination of noninvasive prenatal testing(NIPT),fluorescence in situ hybridization(FISH),karyotype analysis,chromosome microarray analysis(CMA),and other techniques.Methods Related data were collected from the pregnant women who underwent amniocentesis in the second trimester at our center from 2018 to 2022,and a statistical analysis was performed for the results of sex chromosome abnormalities.Results The amniotic fluid analysis was performed for 15224 cases,and 362 cases were found to have sex chromosome abnormalities,among which there were 305 cases(84.3%)of aneuploid abnormalities and 57 cases(15.7%)of structural abnormalities(including chimeric abnormalities).There was a significant difference in the detection rate of chromosomal abnormalities between the pregnant women with different indications for prenatal diagnosis(P<0.001),and NIPT showed a detection rate of 48.37%for the pregnant women with sex chromosome abnormalities.There was a significant difference in the detection rate of 47,XXY between different age groups(χ^(2)=4.97,P<0.05).The combined application of multiple techniques increased the detection rate of complex abnormalities from 2.1%to 2.4%.Conclusion NIPT testing has a significant significance in screening for fetal sex chromosome abnormalities.Sex chromosome abnormalities based on prenatal diagnosis mainly include numerical and chimeric abnormalities,among which 47,XXY is significantly associated with age factors.Karyotype analysis combined with FISH and CMA tests can help to clarify the diagnosis of complex chromosomal abnormalities.

关 键 词：产前诊断 羊水 性染色体畸变 核型分析 原位杂交 荧光 微阵列分析 

分 类 号：R446.7[医药卫生—诊断学] R596.1[医药卫生—临床医学]