Double trisomy revisited—a multicenter experience

Micale, Mark A.; Insko, Janet; Ebrahim, Salah A.D.; Adeyinka, Adewale; Runke, Cassandra; Dyke, Daniel L. Van

doi:10.1002/pd.2429

Cited by 22 publications

(32 citation statements)

References 11 publications

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“…15 Nevertheless, the incidence of double trisomies, although relatively rare, is strongly maternal age dependent following natural conception and includes a wide range of chromosomes though never chromosomes 1 or 19. 16 In our data, only a single maternal aneuploidy for chromosome 1 (monosomy) was detected but there were 10 zygotes with trisomy 19 of which 6 had one or more other aneuploidies (Figure 3; Supplementary data).…”

Section: Discussionmentioning

confidence: 93%

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

Handyside

Montag

Magli³

et al. 2012

Eur J Hum Genet

150

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Chromosome aneuploidy is a major cause of pregnancy loss, abnormal pregnancy and live births following both natural conception and in vitro fertilisation (IVF) and increases exponentially with maternal age in the decade preceding the menopause. Molecular genetic analysis following natural conception and spontaneous miscarriage demonstrates that trisomies arise mainly in female meiosis and particularly in the first meiotic division. Here, we studied copy number gains and losses for all chromosomes in the two by-products of female meiosis, the first and second polar bodies, and the corresponding zygotes in women of advanced maternal age undergoing IVF, using microarray comparative genomic hybridisation (array CGH). Analysis of the segregation patterns underlying the copy number changes reveals that premature predivision of chromatids rather than non-disjunction of whole chromosomes causes almost all errors in the first meiotic division and unlike natural conception, over half of aneuploidies result from errors in the second meiotic division. Furthermore, most abnormal zygotes had multiple aneuploidies. These differences in the aetiology of aneuploidy in IVF compared with natural conception may indicate a role for ovarian stimulation in perturbing meiosis in ageing oocytes.

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Section: Discussionmentioning

confidence: 93%

Multiple meiotic errors caused by predivision of chromatids in women of advanced maternal age undergoing in vitro fertilisation

Handyside

Montag

Magli³

et al. 2012

Eur J Hum Genet

150

View full text Add to dashboard Cite

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“…Pure trisomy was the most common abnormality detected by both methods followed by monosomy X and triploidy. Forty-nine cases of double trisomy were detected by chromosome analysis (previously published by MiCale et al 29 ), and only one case was detected by FISH. Single cases each of triple and quadruple trisomy were also observed.…”

Section: Abnormal Chromosome and Fish Results Distributionmentioning

confidence: 99%

“…The reason for the discrepant percentages of 47,XXY cases between our studies is unclear, but other large POC chromosome studies were similar to our study with very few cases of 47,XXY identified. 36 Double trisomy accounted for approximately 3% of abnormalities observed (previously reported in the meta-analysis by Micale et al 29 ). The sole double trisomy detected by FISH involved chromosomes X and 21.…”

Section: Chromosome Versus Fish Analyses For Abnormality Detectionmentioning

confidence: 95%

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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“…Trisomy 21 can be combined with aneuploidies of different heterologous chromosomes (Micale et al, 2010). The maternal age of a pregnancy with a conceptus showing a double aneuploidy is on average higher than that with a single trisomy.…”

Section: Double Aneuploidiesmentioning

confidence: 99%