Vorsanova S G, Kolotiĭ A D, Iurov I Iu, Kirillova E A, Monakhov V V, Beresheva A K, Solov'ev I V, Iurov Iu B
Klin Lab Diagn. 2005 Nov(11):30-2.
According to different estimates, as high as 15-20% of all the pregnancies result in spontaneous abortions (SA) at different gestational periods. Identification of abnormalities leading to SA is of great importance for practical medicine, mainly for medical genetic counseling of married couples with impaired reproductive function. The diagnosis of chromosomal aberrations on the basis of SA materials is known to have a number of methodological difficulties. The present paper deals with the identification of numerical anomalies in the SA material by multicolor fluorescence in situ hybridization (MFISH). This technique using an original collection of DNA probes for chromosomes 1, 9, 13/21, 14/22, 15, 16, 18, X, and Y was applied to the study of chromosomal aberrations in 224 spontaneous abortion specimens. Numerical chromosomal aberrations were found in 122 (54.5%) cases. The cells of all the studied specimens exhibited aneuploidy of chromosome X in 17% cases; chromosome 16 in 12%, chromosomes 13/21 in 5.8%, chromosomes 14/22 in 4.9%, chromosomes 9 and 18 in 1.3% (each), chromosome 15 in 0.9%, chromosome 1 in 0.45%. Polyploidy was detected in 13.3% of cases; concomitant abnormalities were found in 7 cases. Analysis of the findings has led to the conclusion that MFISH can be successfully used in the diagnosis of numerical chromosomal aberrations of CA cells.
根据不同的估计，在所有妊娠中，高达15% - 20%会在不同孕期发生自然流产（SA）。识别导致自然流产的异常情况对临床医学非常重要，主要用于对生殖功能受损的已婚夫妇进行医学遗传咨询。已知基于自然流产材料诊断染色体畸变存在一些方法学上的困难。本文探讨了通过多色荧光原位杂交（MFISH）识别自然流产材料中的数目异常。该技术使用了针对1、9、13/21、14/22、15、16、18、X和Y染色体的原始DNA探针集，应用于224例自然流产标本的染色体畸变研究。在122例（54.5%）病例中发现了染色体数目畸变。在所有研究标本的细胞中，17%的病例出现X染色体非整倍体；12%出现16号染色体非整倍体，5.8%出现13/21号染色体非整倍体，4.9%出现14/22号染色体非整倍体，9号和18号染色体各有1.3%出现非整倍体，15号染色体有0.9%出现非整倍体，1号染色体有0.45%出现非整倍体。在13.3%的病例中检测到多倍体；7例发现伴有其他异常。对研究结果的分析得出结论，MFISH可成功用于诊断CA细胞的染色体数目畸变。
