title: Frequency of Chromosomal Abnormalities in Products of Conception.
abstract: PurposeTo describe the frequencies of chromosomal abnormalities found in abortion material, and to observe its correlation to maternal age.MethodsA 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.ResultsThe 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).ConclusionChromosomal 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.
authors.affiliation: Department of Biomedical Sciences, College of Human, Social and Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil.
authors.forename: Thaís Mesquita Alves
authors.initials: TM
authors.lastname: Teles
authors.affiliation: Department of Biomedical Sciences, College of Human, Social and Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil.
authors.forename: Carolina Maria Marques de
authors.initials: CM
authors.lastname: Paula
authors.affiliation: Department of Biomedical Sciences, College of Human, Social and Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil.
authors.forename: Mariana Gontijo
authors.initials: MG
authors.lastname: Ramos
authors.affiliation: Department of Molecular Biology, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil.
authors.forename: Helena B B L Martins da
authors.initials: HB
authors.lastname: Costa
authors.affiliation: Department of Molecular Biology, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil.
authors.forename: Cyntia Roberta Almeida
authors.initials: CR
authors.lastname: Andrade
authors.affiliation: Department of Cytogenetics, Códon Biotechnology Laboratory, Belo Horizonte, MG, Brazil.
authors.forename: Sarah Abreu
authors.initials: SA
authors.lastname: Coxir
authors.affiliation: Department of Biomedical Sciences, College of Human, Social and Health Sciences, Universidade FUMEC, Belo Horizonte, MG, Brazil.
authors.forename: Maria Lectícia Firpe
authors.initials: ML
authors.lastname: Penna
mesh_terms: D000022:Abortion, Spontaneous / Q000235:genetics* / Q000473:pathology; D000328:Adult; D002869:Chromosome Aberrations / Q000706:statistics & numerical data*; D005260:Female; D006801:Humans; D008423:Maternal Age; D011247:Pregnancy; D012189:Retrospective Studies