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Frequency of Chromosomal Abnormalities in Products of Conception Frequência De Anomalias Cromossômicas Em Material De Aborto

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Frequency of Chromosomal Abnormalities in Products of Conception Frequência De Anomalias Cromossômicas Em Material De Aborto THIEME 110 Original Article Frequency of Chromosomal Abnormalities in Products of Conception Frequência de anomalias cromossômicas em material de aborto Thaís Mesquita Alves Teles1 Carolina Maria Marques de Paula1 Mariana Gontijo Ramos1 Helena B. B. L. Martins da Costa2,3 Cyntia Roberta Almeida Andrade2 Sarah Abreu Coxir3 MariaLectíciaFirpePenna1 1 Department of Biomedical Sciences, College of Human, Social and Address for correspondence Maria Lectícia Firpe Penna, PhD, Rua Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil Cobre, 200, Belo Horizonte, MG, Brazil (e-mail: [email protected]). 2 Department of Molecular Biology, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil 3 Department of Cytogenetics, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil Rev Bras Ginecol Obstet 2017;39:110–114. Abstract Purpose To describe the frequencies of chromosomal abnormalities found in abor- tion material, and to observe its correlation to maternal age. Methods A retrospective study was conducted based on data obtained from the data- bank 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 Keywords aged 35 years or older compared with younger women (p ¼ 0.02). ► spontaneous Conclusion Chromosomal aberrations are still a major cause of spontaneous abor- abortion tion, and the conventional cytogenetics technique is efficient for miscarriage material ► aneuploidies analysis, but molecular methods such as QF-PCR are adequate complementary ► QF-PCR strategies to detect the major chromosomal anomalies, leading to technical reports ► cytogenetics with reliable results. received DOI http://dx.doi.org/ Copyright © 2017 by Thieme-Revinter June 5, 2016 10.1055/s-0037-1600521. Publicações Ltda, Rio de Janeiro, Brazil accepted ISSN 0100-7203. January 9, 2017 published online March 15, 2017 Frequency of Chromosomal Abnormalities in Products of Conception Teles et al. 111 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 relaçãoentreapresençadeanomaliaseaidadematernatambémfoiavaliada. 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 ¼ 0,02). Palavras-chave Conclusão As aberrações cromossômicas são causas importantes de abortos espontâ- ► aborto espontâneo neos, e o estudo citogenético é eficaz para a análise das amostras de material de ► aneuploidias aborto, mas as técnicas moleculares, como a QF-PCR, representam métodos com- ► QF-PCR plementares adequados para detectar as principais anomalias cromossômicas, possi- ► citogenética bilitando a liberação de laudos com resultados confiáveis. Introduction ical and structural alterations. Molecular cytogenetic Miscarriage is defined by the World Health Organization diagnostic tests are based on studying the fetal karyotype (WHO) as the premature loss of a fetus before the 20th week directly at the DNA level, and use DNA extracted from fetal ofpregnancy, or, if the gestational age is unknown, theloss ofan cells, not requiring tissue culture and allowing the analysis of embryo or fetus weighing less than 400 g.1 Spontaneous specimens fixed in ethanol, formaldehyde or included in pregnancyloss isthe mostcommon complication of pregnancy, paraffin.11,12 Some of these techniques are fluorescence in and occurs in 12–15% of clinically recognized pregnancies. situ hybridization (FISH), multiplex ligation-dependent The chance ofa couple experiencing two consecutivelosses isof probe amplification (MLPA) and quantitative fluorescent 2 to 4%, but most women who have miscarriages can give birth polymerase chain reaction (QF-PCR). to a healthy child later in life.2 All reproductive losses should be investigated by cytoge- The etiology of abortion is multifactorial, and may involve netics, considering that conventional karyotyping has been endocrine, anatomic, immunological, infectious, environ- the gold standard for the chromosomal investigations of POC. mental and genetic factors.3 Chromosomal abnormalities This method allows the detection of structural (transloca- have been reported in 50% of spontaneously aborted fetuses tions, deletions and inversions) as well as numerical chro- of clinically recognized pregnancies, and can be divided in mosomal aberrations. However, it is a laborious, time two basic groups: numerical and structural anomalies. These consuming procedure that can lead to a significant amount can involve one or more autosomal, sex or both chromo- of cases with no results, as it depends on human cells in somes simultaneously.4,5 active process of replication. The rate of culture failure is of The most frequent autosomal anomaly observed in speci- 10–40%, as POC tissues are frequently macerated, contami- mens from spontaneous losses is trisomy 16 (thought to be nated or fixated in alcohol or formaldehyde.12,13 Molecular lethal and incompatible with full fetal development), followed cytogenetic techniques can be used to study POC abnormali- by other autosomal aneuploidies and X monosomy.6,7 As fetal ties, as they do not require cell culture; however, the results chromosomal abnormalities are largely responsible for the could be limited because only numerical chromosomal alter- inefficiency of human reproduction and its associated burdens, ations can be identified on the analyzed chromosomes.14 it is necessary to perform laboratory investigations of the The genetic studies of POC provide important information products of conception (POC) using different diagnostic tech- for the genetic counseling of couples who experience preg- niques to help to understand the possible causes of miscarriage nancy failure, as they help to elucidate the possible causes of – and to provide adequate assistance for future pregnancies.8 10 fetal losses, indicating if any chromosomal abnormality was The analysis of POC has been traditionally performed by responsible for the miscarriage. They can also indirectly cytogenetic karyotyping through the microscope examina- suggest if one of the parents could be the carrier of any tion of banded chromosomal preparations, detecting numer- structural disorder.12,14 Rev Bras Ginecol Obstet Vol. 39 No. 3/2017 112 Frequency of Chromosomal Abnormalities in Products of Conception Teles et al. The aim of this study was to describe the frequencies of Table 1 Normal and abnormal results observed by cytogenetics chromosomal abnormalities found in abortion material, and and molecular biology techniques to determine if there is a correlation between the presence of aberrations and maternal age. Cytogenetics Molecular Total (n ¼ 204) biology (n ¼ 884) (n ¼ 680) Methods Normal 106 (52%) 410 (60%) 516 (58%) Study Type and Samples Abnormal 98 (48%) 270 (40%) 368 (42%) An observational, retrospective study was conducted to describe the results obtained from miscarriage material Results analysis performed by a private medical genetics laboratory in Belo Horizonte, MG, Brazil. The laboratory performs tests A total of 884 results from miscarriage material samples was in miscarriage material received from different regions of included in the study. ►Table 1 shows the frequency of Brazil, covering the whole country. The results were obtained normal and abnormal results obtained by conventional from the laboratory databank, and, besides maternal age, no cytogenetics and molecular biology QF-PCR technique. personal information from the patients was included. As the From the total sample of 884, 368 (42%) cases of chromosome laboratory receives material from different medical facilities abnormalities were detected, while 516 (58%) cases had no with limited information, clinical data such as gestational age detected alterations. Cytogenetics was able to identify 52% of at abortion and clinical history of the parents was not normal results (106 out of 204 tested), and
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