Frequency of Chromosomal Abnormalities in Products of Conception

• Autor(a) principal: Teles,Thaís Mesquita Alves
• Data de Publicação: 2017
• Outros Autores: 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
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Revista brasileira de ginecologia e obstetrícia (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0100-72032017000300110
• topic: spontaneous abortion; aneuploidies; QF-PCR; cytogenetics

Abstract Purpose To describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age. Methods 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 680bymolecular biology basedon 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. Results 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 (p = 0.02). Conclusion 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.