Reproductive and Genetic Medical Centre, Beijing Obstetrics and Gynecology Hospital/Capital Medical University, Beijing, China.
Chin Med J (Engl). 2011 Apr;124(8):1164-8.
Almost all reported fluorescence in situ hybridization (FISH) kits for prenatal diagnosis use probes from foreign (non-Chinese) countries. The aim of this study was to analyze the reliability of domestic (Chinese) FISH probe sets to detect aneuploidies of chromosomes 13, 18, 21, X, and Y related to prenatal diagnosis in 4210 cases.
Cytogenetic karyotyping was carried out as a standard prenatal diagnostic test, and amniotic fluid cell interphase FISH analysis was performed using two sets of probes (centromeric probes for chromosomes 18, X, and Y, and locus-specific probes for chromosomes 13 and 21) provided by GP Medical Technologies, Beijing, China. Then we compared the two results and found the performance characteristics for informative FISH results of aneuploidies by the domestic kit probes.
In 4210 cases, 4126 cases generated karyotype results and 133 abnormal karyotypes (including 97 aneuploidies) were found. The FISH results of 98 cases (among them, 31 cases gave normal cytogenetic results) were uninformative. The rate of abnormal cases was 3.2% (133/4126). For the abnormal karyotypes, the rate of aneuploidy was 72.9% (97/133). Among the 97 aneuploidies, there were 58 cases of trisomy 21 (58/97, 59.8%), four cases of trisomy 13, 23 cases of trisomy 18, and 12 cases of sex chromosomal aneuploidies. The total concordance of the two methods was 97.9% (95/97; two cases were mosaics that had a low percentage of abnormal cells), and the concordance of trisomy 21, 13, and 18 by the two methods was 100%.
The two sets of the domestic FISH kit probes are reliable for prenatal diagnosis. The results demonstrate that FISH is a rapid and accurate clinical method for prenatal identification of chromosome aneuploidies.
几乎所有用于产前诊断的荧光原位杂交（FISH）试剂盒均使用来自国外（非中国）的探针。本研究旨在分析国产（中国）FISH 探针在检测与产前诊断相关的染色体 13、18、21、X 和 Y 非整倍体方面的可靠性，共对 4210 例进行了分析。
细胞遗传学核型分析作为产前诊断的标准检测方法，采用北京 GP 医疗技术公司提供的两套探针（染色体 18、X 和 Y 的着丝粒探针，以及染色体 13 和 21 的基因座特异性探针）进行羊水间期 FISH 分析。然后比较两种结果，并发现国产试剂盒探针在信息丰富的 FISH 结果中对非整倍体的表现特征。
在 4210 例中，4126 例产生了核型结果，发现 133 例异常核型（包括 97 例非整倍体）。98 例（其中 31 例核型正常）FISH 结果无信息。异常病例发生率为 3.2%（133/4126）。对于异常核型，非整倍体发生率为 72.9%（97/133）。在 97 例非整倍体中，21 三体 58 例（58/97，59.8%），13 三体 4 例，18 三体 23 例，性染色体非整倍体 12 例。两种方法的总符合率为 97.9%（95/97；两例为异常细胞比例低的嵌合体），两种方法对 21 三体、13 三体和 18 三体的符合率均为 100%。
国产 FISH 试剂盒的两套探针用于产前诊断是可靠的。结果表明，FISH 是一种快速、准确的产前染色体非整倍体检测方法。
