Detection of aneuploidies in spontaneous abortions by quantitative fluorescent PCR with short tandem repeat markers: a retrospective study

Coelho, F F; Marques, Fabiana Kalina; Gonçalves, Margarida; Almeida, V C O; Mateo, Elvis Cueva; Ferreira, Alexandre de Aguiar

doi:10.4238/gmr.15038617

Cited by 6 publications

(10 citation statements)

References 22 publications

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“…These results corroborate with other studies that demonstrated similar results, showing that trisomies, especially those involving chromosomes 16 and 22, are implicated in spontaneous abortion. 17,[20][21][22][23][24][25] An important point noted in the present study was that trisomy 15 was found in 8. Conventional cytogenetics technique remains highly recommended for spontaneous miscarriage analysis.…”

Section: Discussionmentioning

confidence: 78%

“…However, this method has certain disadvantages, such as a long laboratory cycle, labor intensity and culture failure, especially when the tissues obtained from patients are not well preserved. 17,26 The QF-PCR technique is regarded as a highly accurate, low cost and rapid diagnostic method to facilitate the detection of clinically relevant chromosome aberrations. However, some limitations of the technique are the difficulty to offer a correct diagnosis for mosaicism, small deletions, translocations and duplications.…”

Section: Discussionmentioning

confidence: 99%

“…However, some limitations of the technique are the difficulty to offer a correct diagnosis for mosaicism, small deletions, translocations and duplications. 15,17 Since our laboratory miscarriage material is received from different medical facilities, the QF-PCR method plays an important role as a reliable method for the detection of aneuploidies, when culture fails or when the karyotype is not possible due to inadequate material preservation.…”

Section: Discussionmentioning

confidence: 99%

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Frequency of Chromosomal Abnormalities in Products of Conception

Teles

Paula

Ramos³

et al. 2017

Rev Bras Ginecol Obstet

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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 ¼ 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.

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Section: Discussionmentioning

confidence: 78%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Frequency of Chromosomal Abnormalities in Products of Conception

Teles

Paula

Ramos³

et al. 2017

Rev Bras Ginecol Obstet

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“…Clinical miscarriage can be further divided into early clinical miscarriage, which occurs before the twelfth week of gestation or late clinical miscarriage, which occurs between the twentieth and twenty-first week of pregnancy. The incidence of early clinical miscarriage is about 15%, with considerable variation depending on maternal age [2,3]. For women aged 20 to 24 years, the incidence of early clinical miscarriage is 10%, but it rises to 51% among women aged 40 to 44 years [4].…”

Section: Introductionmentioning

confidence: 99%

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Kubelka-Sabit¹,

Bozinovski²,

Jasar³

et al. 2017

Macedonian Medical Review

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Using a variety of molecular techniques, it has been established that loss of pregnancy occurs in one to two thirds of all fertilized embryos in the first trimester. In about 50% of the cases, chromosomal abnormalities are the cause of early spontaneous abortion. Several histological characteristics of the placenta, such as presence of villous stromal cavitations, fetal erythrocytes, umbilical cord, fetal tissue, etc. are suggested as predictive factors for aneuploidy. Two hundred and thirty one cases were analyzed in this prospective study, 50 cases were control artificial abortions and 181 cases were early spontaneous abortionsanalyzed in the period from May 2012 to December 2014. Standard histopathological analysis and molecular techniques based on polymerase chain reaction were used to analyze the samples. Usingmolecular techniques, aneuploidy was detected in 53.1% of the samples. The most frequently detected aneuploidy was trisomy 16, followed by trisomy 22, 21, 14 and 18. The molecular analysis also enabled distinction of maternal and paternal origin of the alleles. In the histopathological sample analysis, binary logistic regression analysis indicated the presence of trophoblastic proliferation (p=0.008) and the absence of fetal red blood cells (p=0.001) as independent significant factors in the prediction of aneuploidy in early spontaneous abortion. In conclusion, our results show that clinically relevant and accurate diagnosis of early spontaneous abortion which can determine its causecan only be achieved bya controlled process of selection of the material, histo-pathological and molecular analysis, followed bya necessary correlation of these results.

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“…В связи с этим, учитывая высокую стоимость данных исследований, стандартное кариотипирование НБ/СА остается наиболее доступным, рутинным и довольно информативным трисомии [11] в мировой литературе описано всего 456 наблюдений (в отечественной литературе подобных отдельных публикаций прежде не было) [25,26,[43][44][45][46]. Различные исследователи, изучавшие эту патологию, отметили, что двойные и множественные трисомии ассоциируют с более старшим возрастом матери по сравнению с регулярными трисомиями по одной хромосоме, анэмбрионией и морфологическими дефектами эмбрионов по результатам УЗИ и более ранним сроком репродуктивных потерь [47].…”

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Prevalence and spectrum of chromosome abnormalities among spontaneous and induced early reproductive losses: 2020 miscarriages and 1572 medical abortions

Veropotvelyan¹,

Poguliay²,

Savarovskaya³

2020

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This article presents the data of a comparative analysis of 9 large studies of non-developing pregnancies (NB) karyotype, published after 2000, as well as results of our own study of NB and medical abortion (MA), performed in the first trimester of pregnancy.Objective of the study: to assess the prevalence and structure of chromosomal abnormalities (CA) among spontaneous and induced reproductive losses in the first trimester of pregnancy. Materials and methods. From 1997 to 2019 karyotyping of concept products was carried out for NB (n = 2020) in terms of 5-13 weeks, obtained from women from 7 regions of the South-Eastern and Central regions of Ukraine, and MA (n = 1572) performed in the first trimester of pregnancy. Results. The efficiency of NB material karyotyping was 94%. Chromosomal pathology (CP) was 56.5% in NB material and 5.4% in MA material; autosomal trisomies -51% of all CP among NB and 48.2% of all CP among MA; triploidy -17.8% and 15.3% in the NB and MA groups, respectively; tetraploidy -8.67% and 12.9%; monosomy X -12.9% and 10.6%; restructuring -5.5% and 10.6%; multiple trisomies -3.2% and 3.5%, that is consistent with the data of other studies. In this study authors noted a significant predominance of 15, 16, 22 chromosomes trisomy over 13, 18, 21 chromosomes trisomy, as well as a large proportion of diandroid triploidies in comparison with other studies. Differences in the CA structure in anembryonic and NB with an embryo presence were established -multiple predominance of tetraploidies and structural rearrangements in anembryony and 15 chromosome trisomy, as well as X monosomy in an embryo presence. An association of mother's young age with a higher incidence of triploidies among NB was noted. Conclusions. The absolute majority of CA among NB and MA occurs sporadically, with exception of some structural rearrangements (robertsonian and reciprocal translocations). Our outcome analysis showed that standard karyotyping is still the first-line choice for examining the products of the concept of early pregnancy losses.

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Detection of aneuploidies in spontaneous abortions by quantitative fluorescent PCR with short tandem repeat markers: a retrospective study

Cited by 6 publications

References 22 publications

Frequency of Chromosomal Abnormalities in Products of Conception

Frequency of Chromosomal Abnormalities in Products of Conception

Detection of Placental Chromosomal Aberrations in Early Spontaneous Abortionsin Correlation with the Histologic Findings

Prevalence and spectrum of chromosome abnormalities among spontaneous and induced early reproductive losses: 2020 miscarriages and 1572 medical abortions

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