Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

Diego‐Alvarez, Dan; Garcia‐Hoyos, Maria; Trujillo, M.J.; Gonzalez-Gonzalez, Cristina; Alba, Marta Rodríguez de; Ayuso, Carmen; Ramos-Corrales, Carmen; Lorda‐Sánchez, Isabel

doi:10.1093/humrep/deh781

Cited by 49 publications

(44 citation statements)

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“…In an attempt to overcome these problems other techniques such as fluorescent polymerase chain reaction (Diego-Alvarez et al, 2005), interphase-FISH (Horiuchi et al, 1997;Lebedev et al, 2004, Vorsanova et al, 2005, chromosome-CGH (Daniely et al, 1998;Fritz et al, 2001), MLPA (Diego-Alvarez et al, 2006) and array-CGH have been introduced in the study of POCs.…”

Section: Discussionmentioning

confidence: 99%

“…Thus, in addition to being a time-consuming test, karyotyping does not always lead to a result; furthermore, in about 4.4% to 29% of cases the result does not correspond to the actual fetal karyotype, mainly due to maternal cell contamination as shown by other techniques such as fluorescence in situ hybridization (FISH) and others (Bell et al, 1999;Lomax et al, 2000;Diego-Alvarez et al, 2005;Karaoguz et al, 2005;Nikitina et al, 2005) DNA-based technologies do not require dividing cells thus, overcoming one of the main limitations associated with conventional cytogenetic analysis of spontaneous abortion material. Several of these methods have been used as diagnostic tools, including fluorescent polymerase chain reaction (Diego-Alvarez et al, 2005), interphase-FISH (Horiuchi et al, 1997;Lebedev et al, 2004, Vorsanova et al, 2005, chromosome-CGH (Daniely et al, 1998, Fritz et al, 2001, and multiplex ligation probe amplification (MLPA) (Diego-Alvarez et al, 2006). More recently, array-CGH has been considered as a particularly useful alternative to conventional karyotyping in the field of diagnosis (Schaeffer et al, 2004;Benkhalifa et al, 2005;Shimokawa et al, 2006), as it allows screening gains and losses in thousands of targets simultaneously.…”

Section: Introductionmentioning

confidence: 99%

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Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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In about 50% of first trimester spontaneous abortion the cause remains undetermined after standard cytogenetic investigation. We evaluated the usefulness of array-CGH in diagnosing chromosome abnormalities in products of conception from first trimester spontaneous abortions. Cell culture was carried out in short-and long-term cultures of 54 specimens and cytogenetic analysis was successful in 49 of them. Cytogenetic abnormalities (numerical and structural) were detected in 22 (44.89%) specimens. Subsequent, array-CGH based on large insert clones spaced at 1 Mb intervals over the whole genome was used in 17 cases with normal G-banding karyotype. This revealed chromosome aneuplodies in three additional cases, giving a final total of 51% cases in which an abnormal karyotype was detected. In keeping with other recently published works, this study shows that array-CGH detects abnormalities in a further~10% of spontaneous abortion specimens considered to be normal using standard cytogenetic methods. As such, array-CGH technique may present a suitable complementary test to cytogenetic analysis in cases with a normal karyotype.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Array-CGH testing in spontaneous abortions with normal karyotypes

Borovik

Pérez²,

Silva

et al. 2008

Genet. Mol. Biol.

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“…Materials and Methods: All products of conception samples were simultaneously processed for both chromosome analysis and FISH analysis. If the chromosome analysis was unsuccessful, interphase FISH was performed for chromosomes 13,16,18,21,22, X, and Y. To assess the performance of the FISH assay, a 3-year retrospective comparative analysis of the FISH results versus chromosome results was performed.…”

Section: Introductionmentioning

confidence: 99%

“…Several alternative assays have been used to evaluate POC genetics, including comparative genomic hybridization (CGH), 14,15 array CGH, 16 -21 quantitative fluorescent polymerase chain reaction (PCR), 22 multiplex ligation-dependent probe amplification (MLPA), 14,15 and fluorescent in situ hybridization (FISH). [23][24][25][26] These techniques circumvent the need for dividing tissue and can be readily integrated in the clinical laboratory setting.…”

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confidence: 99%

Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Shearer

Thorland

Carlson

et al. 2011

Genetics in Medicine

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Introduction:The use of chromosome analysis on products of conception from spontaneous abortions is recommended to identify a genetic etiology. However, 20% of products of conception cultures are unsuccessful due to microbial contamination or lack of viable dividing cells. Our laboratory implemented a reflex fluorescent in situ hybridization (FISH) assay to detect numeric chromosome abnormalities for unsuccessful cultures. Materials and Methods: All products of conception samples were simultaneously processed for both chromosome analysis and FISH analysis. If the chromosome analysis was unsuccessful, interphase FISH was performed for chromosomes 13,16,18,21,22, X, and Y. To assess the performance of the FISH assay, a 3-year retrospective comparative analysis of the FISH results versus chromosome results was performed. Results: Of 5555 total specimens, 4189 (75%) represented chorionic villi/fetal tissue and 1366 (25%) represented tissue of unidentified origin. Of the 1189 tissues of unidentified origin with chromosome or FISH results, 1096 (92%) were XX, indicating that the majority of these tissues are likely maternal in origin. Of the 3361 successful chromosome studies on the chorionic villi/fetal tissue specimens, 1734 (52%) samples had a chromosome abnormality. Of the 762 successful FISH studies on chorionic villi/fetal tissue specimens that were unsuccessful by chromosome studies, 181 (25%) had an abnormal result with the targeted FISH panel. Overall, the FISH panel detected approximately 70% of the chromosome abnormalities in products of conception detectable by karyotype. When the FISH panel results were combined with chromosome analysis for the 4189 chorionic villi/fetal tissue specimens, the overall abnormality rate is 47%. Conclusions: Our reflex FISH assay proved useful for the detection of common chromosome aneuploidies in products of conception samples that failed conventional chromosome analysis. Because of its limited view of the genome, cautious interpretation of FISH results is required for all samples, in particular, trisomy of an acrocentric chromosome, which may represent a Robertsonian translocation. An algorithmic approach to the genetic evaluation of products of conception specimens, with the potential for initial evaluation by a FISH panel, may be warranted. Genet Med 2011:13(6):545-552.

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“…Several studies have used DNA polymorphisms to identify the origin of the extra chromosome 21 (13)(14)(15). In the largest meta-analysis study of 807 Down syndrome patients, the parental origin was maternal in 90.7% of cases, paternal in 5.5% and mitotic in the remaining 3.8% (16).…”

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confidence: 99%

Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana

et al. 2007

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Introduction. Free trisomy 21 is responsible for 95% of Down syndrome cases. Advanced maternal age and susceptible recombination patterns are recognized risk factors associated to Down syndrome. Maternal origin of trisomy occurs in approximately 90% of cases; paternal and mitotic origin share the remaining 10%. However, the recombination events that serve as a risk factors for trisomy 21 have not been carefully characterized. Objective. To analyze and validate observations in a sample of Colombian trysonomy 21 cases. Materials and methods. Twenty-two Colombian families were selected, each with one affected Down syndrome (free trisomy 21) child. Microsatellite polymorphisms were used as DNA markers to determine the parental/stage origin of non-disjunction and recombination events. Nonparametric tests were used to compare our results with those reported. Multiple correspondence analysis was used to outline different groups and their associations. Results. Distribution of trisomy 21 was 90.9% maternal, 4.5% paternal and 4.5% from mitotic origin, similar to distributions reported previously. However, we found differences in the frequency of maternal meiotic stage errors between the present study (46.1% meiosis I and 53.9% meiosis II) compared to those reported previously (70% meiosis I and 30% meiosis II). Multiple correspondence analyses showed association of either local recombination events or absence of recombination with specific non-disjunction stages. Conclusions. Recombination patterns found in this study support the hypothesis that susceptible chiasmate configurations are associated to maternal meiosis I and meiosis II errors. Nondisjunction frequencies between maternal meiotic stages need to be clarified in our population.Key words: Down syndrome; nondisjunction, genetic; trisomy; meiosis; recombination, genetic; microsatellite repeats.Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana Introducción. La trisomía 21 libre es responsable del 95% de los casos de síndrome de Down. La edad materna y la recombinación son los principales factores de riesgo asociados con la concepción de estos individuos. El origen materno de la trisomía ocurre en el 90% de los casos, mientras que los casos de origen paterno y mitótico comparten un 10%. Por otra parte, la recombinación como factor de riesgo para la trisomía 21 no ha sido comprobada completamente. Objetivo. Analizar y validar estas observaciones en una muestra colombiana de casos con trisomía 21 libre. Materiales y métodos. Se estudiaron 22 afectados con síndrome de Down (trisomía libre) y sus respectivos padres. Se usaron marcadores microsatélites de ADN para determinar el origen en los progenitores, el estado de no disyunción y los eventos de recombinación. Por COMUNICACIÓN BREVE 142 Biomédica 2007;27:141-8 Ramírez NJ, Belalcazar HM, Yunis JJ et al medio de pruebas no paramétricas se compararon los resultados con los reportados en la literatura. Se re...

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Application of quantitative fluorescent PCR with short tandem repeat markers to the study of aneuploidies in spontaneous miscarriages

Abstract: QF-PCR represents a useful and reliable tool to diagnose aneuploidies in spontaneous miscarriages. It provides information about parental and meiotic origin of anomaly, allowing an appropriate genetic counselling.

Cited by 49 publications

References 29 publications

Array-CGH testing in spontaneous abortions with normal karyotypes

Array-CGH testing in spontaneous abortions with normal karyotypes

Reflex fluorescent in situ hybridization testing for unsuccessful product of conception cultures: A retrospective analysis of 5555 samples attempted by conventional cytogenetics and fluorescent in situ hybridization

Origen parental, estado de no disyunción y recombinación meiótica del cromosoma 21 extra en el síndrome de Down: estudio en una muestra de población colombiana

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