Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization

Azmanov, Dimitar N.; Milachich, Tania V.; Zaharieva, Boriana; Michailova, Gergana I.; Dimitrova, Violeta; Karagiozova, Zivka H.; Maznejkova, Valentina T.; Chernev, T; Toncheva, Draga

doi:10.1016/j.ejogrb.2006.04.037

Cited by 36 publications

(22 citation statements)

References 25 publications

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“…We found only 87 (27%) chromosomal abnormal cases in 328 samples from pregnancy losses. The majority of literature refers that at least 50% of all spontaneous abortions have abnormal chromosomes, but this is particularly true for early cases, namely before 12 weeks [17][18][19]. The lower incidence in our series could be explained by an excess of normal female karyotypes due to maternal contamination.…”

Section: Discussioncontrasting

confidence: 52%

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Dória

Lima

Carvalho

et al. 2010

J Assist Reprod Genet

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Section: Discussioncontrasting

confidence: 52%

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Dória

Lima

Carvalho

et al. 2010

J Assist Reprod Genet

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“…[15][16][17] Genetic defects of the zygote, such as chromosome abnormalities, are the most frequent causes of abnormal embryonic development and spontaneous miscarriages (SM). [18][19][20] However, genetic factors, other than chromosomal abnormalities could also be involved. Imprinted genes play important roles in early human development, acting as growth factors such as IGF2 (Insulin-like Growth Factor 2; 11p15.5) or as gene expression regulators that control fetal growth and placental development.…”

Section: Introductionmentioning

confidence: 99%

Gene expression pattern ofIGF2,PHLDA2,PEG10andCDKN1Cimprinted genes in spontaneous miscarriages or fetal deaths

Dória

Sousa²,

Fernandes³

et al. 2010

Epigenetics

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“…10,11 It has been applied successfully by several groups to detect fetal chromosome abnormalities in POC. 5,[12][13][14][15][16][17] Array CGH takes this technique one step further by hybridizing labeled patient and reference DNA to a selection of genomic clones on a slide. 18,19 The use of these clones as target DNA increases the resolution beyond the 3-Mb limit of G-banding and especially beyond the 10-20-Mb low-resolution banding usually applied in the study of miscarriages.…”

mentioning

confidence: 99%

Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls

Robberecht¹,

Schuddinck²,

Fryns³

et al. 2009

Genetics in Medicine

101

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Purpose: About 50% of spontaneous abortions are caused by fetal chromosome abnormalities. Identification of these abnormalities helps to estimate recurrence risks in future pregnancies. However, due to culture failures or maternal contamination often no fetal karyotype can be obtained. Array comparative genomic hybridization can overcome some of these limitations. Methods: In this study, we analyzed 103 miscarriages by both T-banding and 1-Mb array comparative genomic hybridization. Results: We found an overall abnormality rate of 35% (34 of 96). In a comparison of 70 samples that were successfully analyzed by both techniques, 54 (77%) had identical karyotypes (42 normal, 12 abnormal) and 16 (23%) cases showed discrepancies. Most of these differences were due to maternal contamination during cell culture, which resulted erroneously in a normal female karyotype. Conclusion: These results demonstrate the improved diagnostic yield of array comparative genomic hybridization as compared with conventional karyotyping. Therefore, we implemented this technique in the diagnostic workup of miscarriages. Genet Med 2009:11(9):646 -654.Key Words: miscarriage, array comparative genomic hybridization, array CGH, chromosomal imbalance S pontaneous abortions are common, with 10% to 15% of all clinically recognized pregnancies ending in early pregnancy loss. Cytogenetic analysis has shown that about 50% of first trimester miscarriages are caused by fetal chromosome abnormalities, most of which consist of numerical abnormalities (86%), including trisomies, monosomies, and polyploidies. Structural abnormalities represent another 6% of anomalies found. 1-3 Identification of the cause of a spontaneous abortion helps to estimate recurrence risks in future pregnancies and, when an anomaly is found, comforts parents. Over the years, routine analysis of products of conception (POC) has been performed by karyotyping of metaphase spreads after tissue culture. However, due to failure of culture growth, suboptimal chromosome preparations, or possible maternal contamination 4,5 either no result or an erroneous result is obtained.New molecular cytogenetic methods avoid some of these pitfalls. Interphase fluorescence in situ hybridization (FISH), quantitative fluorescence polymerase chain reaction, and subtelomeric multiplex ligation-dependent probe amplification are rapid techniques that do not require cell culture and can be performed in 24 to 48 hours. 6 -9 Their main disadvantage, however, is the use of probes and primers that target only a selection of chromosomes or only specific subtelomeric loci, thereby missing information about the remaining genome.Comparative genomic hybridization (CGH) uses DNA isolated directly from the fetus or extra embryonic tissues and, after labeling with fluorescent dyes, hybridizes this DNA together with a labeled reference sample to normal metaphase spreads. 10,11 It has been applied successfully by several groups to detect fetal chromosome abnormalities in POC. 5,12-17 Array CGH takes this technique one st...

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Profile of chromosomal aberrations in different gestational age spontaneous abortions detected by comparative genomic hybridization

Cited by 36 publications

References 25 publications

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Application of touch FISH in the study of mosaic tetraploidy and maternal cell contamination in pregnancy losses

Gene expression pattern ofIGF2,PHLDA2,PEG10andCDKN1Cimprinted genes in spontaneous miscarriages or fetal deaths

Diagnosis of miscarriages by molecular karyotyping: Benefits and pitfalls

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