Teles Thaís Mesquita Alves, Paula Carolina Maria Marques de, Ramos Mariana Gontijo, Costa Helena B B L Martins da, Andrade Cyntia Roberta Almeida, Coxir Sarah Abreu, Penna Maria Lectícia Firpe
Department of Biomedical Sciences, College of Human, Social and Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil.
Department of Molecular Biology, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil.
Rev Bras Ginecol Obstet. 2017 Mar;39(3):110-114. doi: 10.1055/s-0037-1600521. Epub 2017 Mar 15.
To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. A retrospective study was conducted based on data obtained from the databank of a medical genetics laboratory in Belo Horizonte, MG, Brazil. A total of 884 results from products of conception analysis were included, 204 of which were analyzed by cytogenetics, and 680 by molecular biology based on quantitative fluorescence polymerase chain reaction (QF-PCR). The frequency of individual chromosomal aberrations and the relationship between the presence of anomalies and maternal age were also evaluated. The conventional cytogenetics technique was able to detect 52% of normal and 48% of abnormal results in the analyzed material. Quantitative fluorescence polymerase chain reaction revealed 60% of normal and 40% of abnormal results from the samples evaluated by this method. The presence of trisomy 15 was detected only by cytogenetics, as it was not included in the QF-PCR routine investigation in the laboratory. A significant increase in abnormal results was observed among women aged 35 years or older compared with younger women ( = 0.02). Chromosomal aberrations are still a major cause of spontaneous abortion, and the conventional cytogenetics technique is efficient for miscarriage material analysis, but molecular methods such as QF-PCR are adequate complementary strategies to detect the major chromosomal anomalies, leading to technical reports with reliable results.
描述流产组织中发现的染色体异常频率,并观察其与母亲年龄的相关性。基于从巴西米纳斯吉拉斯州贝洛奥里藏特市一家医学遗传学实验室数据库中获取的数据进行了一项回顾性研究。共纳入884例妊娠产物分析结果,其中204例通过细胞遗传学分析,680例通过基于定量荧光聚合酶链反应(QF-PCR)的分子生物学分析。还评估了个体染色体畸变的频率以及异常情况与母亲年龄之间的关系。传统细胞遗传学技术能够在分析材料中检测出52%的正常结果和48%的异常结果。定量荧光聚合酶链反应显示,通过该方法评估的样本中有60%为正常结果,40%为异常结果。15三体的存在仅通过细胞遗传学检测到,因为它未包含在该实验室的QF-PCR常规检测中。与年轻女性相比,35岁及以上女性的异常结果显著增加(P = 0.02)。染色体畸变仍然是自然流产的主要原因,传统细胞遗传学技术对流产材料分析有效,但QF-PCR等分子方法是检测主要染色体异常的适当补充策略,可得出可靠结果的技术报告。