Chromosomal disorders in the fetus of pregnant woman from Aktau

A. M. Kalimagambetov, A. Dyusembaeva, I. A. Khalelova, Z. Aitasheva, B. Kudryavtsev
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Abstract

. The article presents the data of cytogenetic study on the fetal karyotype of 310 pregnant women from the city Aktau in 2013-2015. Chorionic biopsy and placental biopsy were carried out for 248 pregnant women with amniocentesis in 18 cases and cordocentesis in 44 cases. Clinical indicators imposing invasive procedures to pregnant women at risk were maternal age factor, fetal ultrasound markers, serum blood markers determined in pregnant women, the presence of children with multiple congenital malformations, chromosomal pathologies, etc. Distribution frequencies of fetal chromosomal abnormalities have been determined based on clinical and laboratory studies. The highest frequency of chromosomal abnormalities of the fetus was indicated in pregnant women with three salient indicators: the factor of the age of the pregnant woman, parameters of biochemical screening, and ultrasound markers. Chromosomal abnormalities of the fetus were detected in 94 (30.3%) pregnant women including 92 cases (97.9%) represented by numerical chromosome disorders and 2 cases (2.1%) of structural disorders. Disorders of the autosome system were observed 9.4 times more often comparing to abnormalities in the sex chromosome system. Of the numerical chromosome abnormalities, a high specific weight is occupied by trisomy of the 21-st chromosome which has reached 65.1%. A comparative analysis of the frequencies of chromosomal abnormalities of the fetus of two port cities has demonstrated a 1.7-fold increase in the city of Aktau (Kazakhstan) compared with the city of Murmansk (Russia), and the average frequencies of fetal karyotype anomalies have made up 19.6% and 11.6%, respectively. Higher level of frequencies for fetal karyotype anomalies in Aktau is possibly associated with unfavorable environmental conditions in this city caused by the allocation of the oil and gas industry, the repository for tailing toxic and radioactive wastes, and abandoned uranium mines.
阿克套孕妇胎儿的染色体紊乱
。本文报道了2013-2015年阿克套市310例孕妇胎儿核型的细胞遗传学研究资料。对248例孕妇进行了绒毛膜活检和胎盘活检,其中羊膜穿刺术18例,脐穿刺术44例。对高危孕妇实施侵入性手术的临床指标有:产妇年龄因素、胎儿超声标记物、孕妇血清血液标记物、是否存在多种先天性畸形、染色体病变等。胎儿染色体异常的分布频率已根据临床和实验室研究确定。胎儿染色体异常发生率最高的孕妇有三个显著指标:孕妇年龄因素、生化筛查参数、超声标志物。胎儿染色体异常94例(30.3%),其中以数字染色体异常92例(97.9%),以结构染色体异常2例(2.1%)。常染色体系统异常的发生率是性染色体系统异常的9.4倍。在数型染色体异常中,21- 1染色体三体占比较高,达65.1%。对两个港口城市胎儿染色体异常频率的比较分析表明,哈萨克斯坦阿克套市比俄罗斯摩尔曼斯克市增加了1.7倍,胎儿核型异常的平均频率分别为19.6%和11.6%。阿克套胎儿核型异常的较高频率可能与该城市不利的环境条件有关,这些环境条件是由石油和天然气工业的分配、尾矿有毒和放射性废物的储存库以及废弃的铀矿造成的。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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