1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary.
Clin Chim Acta. 2015 May 20;445:2-6. doi: 10.1016/j.cca.2015.03.009. Epub 2015 Mar 16.
Aneuploidies are the most frequent chromosomal abnormalities at birth. Autosomal aneuploidies cause serious malformations like trisomy 21, trisomy 18 and trisomy 13. However sex chromosome aneuploidies are causing less severe syndromes. For the detection of these aneuploidies, the "gold standard" method is the cytogenetic analysis of fetal cells, karyograms show all numerical and structural abnormalities, but it takes 2-4 weeks to get the reports. Molecular biological methods were developed to overcome the long culture time, thus, FISH and quantitative fluorescent PCR were introduced. In this work we show our experience with a commercial kit for the detection of sex chromosome aneuploidies.
We analyzed 20.173 amniotic fluid samples for the period of 2006-2013 in our department. A conventional cytogenetic analysis was performed on the samples. We checked the reliability of quantitative fluorescent PCR and DNA fragment analysis on those samples where sex chromosomal aneuploidy was diagnosed.
From the 20.173 amniotic fluid samples we found 50 samples with sex chromosome aneuploidy. There were 19 samples showing 46, XO, 17 samples with 46, XXY, 9 samples with 47, XXX and 5 samples with 47, XYY karyotypes. The applied quantitative fluorescent PCR and DNA fragment analyses method are suitable to detect all abnormal sex chromosome aneuploidies.
Quantitative fluorescent PCR is a fast and reliable method for detection of sex chromosome aneuploidies.
非整倍体是出生时最常见的染色体异常。常染色体非整倍体导致严重的畸形，如 21 三体、18 三体和 13 三体。然而，性染色体非整倍体引起的综合征则较为轻微。为了检测这些非整倍体，“金标准”方法是对胎儿细胞进行细胞遗传学分析，核型图显示所有的数目和结构异常，但需要 2-4 周才能得到报告。为了克服漫长的培养时间，人们开发了分子生物学方法，因此引入了 FISH 和定量荧光 PCR。在这项工作中，我们展示了我们使用商业试剂盒检测性染色体非整倍体的经验。
我们在本部门对 2006 年至 2013 年期间的 20173 例羊水样本进行了分析。对样本进行了常规细胞遗传学分析。我们检查了在诊断出性染色体非整倍体的样本中，定量荧光 PCR 和 DNA 片段分析的可靠性。
从 20173 例羊水样本中，我们发现了 50 例性染色体非整倍体样本。其中 19 例为 46，XO，17 例为 46，XXY，9 例为 47，XXX，5 例为 47，XYY 核型。应用的定量荧光 PCR 和 DNA 片段分析方法适用于检测所有异常的性染色体非整倍体。
定量荧光 PCR 是一种快速可靠的检测性染色体非整倍体的方法。
