Frequency of Chromosomal Abnormalities in Products of Conception

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 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.

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.

Resumo

Objetivos Descrever a frequência de anomalias cromossômicas encontradas em material de aborto, e observar se estas estão relacionadas com a idade materna.

Métodos Foi realizado um estudo retrospectivo no banco de dados de um laboratório de genética médica em Belo Horizonte, MG. O estudo incluiu 204 resultados avaliados por citogenética, e 680 resultados por biologia molecular baseada em reação em ensaio fluorescente da reação em cadeia da polimerase (QF-PCR), totalizando um número de 884 análises. A frequência de diferentes anomalias cromossômicas e a relação entre a presença de anomalias e a idade materna também foi avaliada.

Resultados A citogenética convencional foi capaz de detectar 52% de resultados normais e 48% de resultados anormais no material analisado. A QF-PCR revelou 60% de resultados normais e 40% de anormais nas amostras avaliadas por esta técnica. A presença da trissomia 15 foi detectada por citogenética, mas até então não era incluída na investigação por QF-PCR no laboratório. Um aumento significativo na quantidade de resultados anormais foi observado em mulheres com idade de 35 anos ou mais, quando comparado a mulheres mais jovens (p = 0,02).

Conclusão As aberrações cromossômicas são causas importantes de abortos espontâneos, e o estudo citogenético é eficaz para a análise das amostras de material de aborto, mas as técnicas moleculares, como a QF-PCR, representam métodos complementares adequados para detectar as principais anomalias cromossômicas, possibilitando a liberação de laudos com resultados confiáveis.

Keywords

spontaneous abortion - aneuploidies - QF-PCR - cytogenetics

Palavras-chave

aborto espontâneo - aneuploidias - QF-PCR - citogenética

• References

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