摘要
目的:探讨染色体微阵列分析(CMA)、荧光原位杂交(FISH)和细胞核型分析在胎儿羊水低比率嵌合体中的诊断差异性。方法:回顾分析我院2019年1月-2020年12月无创DNA产前筛查提示21、18、13为高风险(Z值<5),补充报告为性染色体可能异常的病例,并进一步联合运用CMA、FISH与细胞核型分析确诊其是否为异常核型及嵌合比例。结果:收集30例,FISH检出率100%(95%CI:88.65%~100%),核型分析检出率70%(95%CI:52.12%~83.34%),CMA检出率13.33%(95%CI:5.31%~29.68%)。对于嵌合体的检测,核型分析与FISH方法有统计学差异(P=0.004),CMA与FISH检测也有统计学差异(P<0.001)。结论:对于无创DNA产前筛查提示21、18、13为高风险(Z值<5),或者性染色体数目存在异常的胎儿,FISH可以作为确定嵌合类型以及异常核型嵌合比例的首选检测方法。
Objective:To discuss diagnostic value of chromosomal microarray analysis(CMA),fluorescence in situ hybridization(FISH)and karyotype in fetal low-rate chimerism.Methods:The cases with high risk(Z value less than 5)of 21,18 and 13 screened by non-invasive prenatal testing(NIPT),and possible sex chromosome abnormality by supplementary report,from January 2019 to December 2020 in our hospital were analyzed retrospectively.CMA,FISH and karyotype were further applied to verify whether the patient had abnormal karyotype and what proportion of chimerism it was.Results:For the 30 cases,the detection rate was 100%(95%CI:88.65%to 100%)by FISH,70%(95%CI:52.12%to 83.34%)by karyotype,and 13.33%(95%CI:5.31%to 29.68%)by CMA.For the detection of chimerism,there was a significant difference between karyotype analysis and FISH(P=0.004),so did CMA and FISH(P<0.001).Conclusion:For those fetuses at high risk(Z value less than 5)of 21,18,and 13 suggested by NIPT,or with possible sex chromosome abnormality,FISH can be used as the preferred method to determine the type of chimerism and the proportion of chimerism with abnormal karyotypes.
作者
付爱红
邱萍
潘芹
Fu Aihong;Qiu Ping;Pan Qin(Clinical Laboratory,Yichang Central People's Hospital,The First College of Clinical Medical Science,China Three Gorges University,Yichang 443003,China)
出处
《巴楚医学》
2023年第1期59-63,共5页
Bachu Medical Journal
基金
国家自然科学基金项目(No:81902168)。
关键词
胎儿低比率嵌合体
染色体微阵列分析
荧光原位杂交
细胞核型分析
fetal low-rate chimerism
chromosomal microarray analysis
fluorescence in situ hybridization
karyotype analysis
