Cytogenetics of Pregnancy Wastage

Boué, A; Boué, J; Gropp, A.

doi:10.1007/978-1-4615-9400-0_1

Cited by 126 publications

(97 citation statements)

References 94 publications

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“…Furthermore, we found that Rob-affected chromosomes exhibited a higher rate of mosaicism in the ICM and TE (5.77%) than Robfree chromosomes (0.52%), suggesting that consistency is lower for chromosomes affected by Rob. This may be due to the higher propensity for acrocentric chromosomes involved in Rob (such as chromosomes 13, 14, 15, 21, and 22) to missegregate during mitosis/meiosis (Boue et al 1985), resulting in more diverse cell lines and a higher frequency of mosaicism (Iwarsson et al 2000, Emiliani et al 2003.…”

Section: Discussionmentioning

confidence: 99%

“…Previous studies in cleavage-stage embryos have found a higher frequency of mosaicism and abnormal segregation for translocation-associated chromosomes as compared to other chromosomes that were not associated with translocation from the same embryo (Iwarsson et al 2000) or embryos from couples with a normal karyotype (Emiliani et al 2003). Some explanations have been proposed to explain the phenomenon, for example, a higher propensity of CR-associated chromosomes to missegregate as a result of rearrangements themselves during mitosis/meiosis (Iwarsson et al 2000) or the greater likelihood of acrocentric chromosomes (such as chromosomes 13, 14, 15, 21 and 22) that are frequently involved in translocation to missegregate and show numerical abnormalities (Boue et al 1985), resulting in more diverse cell lines (Iwarsson et al 2000, Emiliani et al 2003. Thus, mosaicism may be common in blastocysts from CR carriers, especially for CR-associated chromosomes.…”

Section: Introductionmentioning

confidence: 99%

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Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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Balanced chromosomal rearrangements (CRs) are among the most common genetic abnormalities in humans. In the present study, we have investigated the degree of consistency between the chromosomal composition of the blastocyst inner cell mass (ICM) and trophectoderm (TE) in carriers with balanced CR, which has not been previously addressed. As a secondary aim, we have also evaluated the validity of cleavage-stage preimplantation genetic diagnosis (PGD) based on fluorescence in situ hybridization (FISH) of blastocysts from CR carriers. Blastocyst ICM and TE were screened for chromosomal aneuploidy and imbalance of CR-associated chromosomes based on whole-genome copy number variation analysis by low-coverage next-generation sequencing (NGS) following single-cell wholegenome amplification by multiple annealing and looping-based amplification cycling. The NGS results were analyzed without knowledge of cleavage-stage FISH results. NGS results for blastocyst ICM and TE from CR carriers were 86.49% (32/37) consistent. Of the 1702 (37!46) chromosomes examined, 99.47% (1693/1702) showed consistency. However, only 40.0% (18/45) of all embryos had consistent results for chromosomes involved in CR, as determined by blastocyst NGS and cleavage-stage FISH. Of the 85 CR-affected chromosomes analyzed by FISH, 37.65% (32/85) were incongruous with NGS results, with 87.5% (28/32) showing imbalanced composition by FISH but balanced composition by NGS. These results indicate that chromosomal composition of blastocyst ICM and TE in balanced CR carriers is highly consistent, and that PGD based on cleavage-stage FISH is inaccurate; therefore, using blastocyst TE biopsies for NGS-based PGD is recommended for identifying chromosomal imbalance in embryos from balanced CR carriers.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Gui

Yao

et al. 2016

Reproduction

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“…17 Meanwhile nearly 20 000 spontaneous abortions have been karyotyped and the general distribution of anomalies is well established (Figure 2). It is remarkable, however, that the highest overall abnormality rates in early spontaneous abortions were found in series with the high culture success rates.…”

Section: Discussionmentioning

confidence: 99%

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

et al. 2001

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Comparative genomic hybridisation (CGH) represents an alternative molecular-cytogenetic technique capable of detecting chromosomal imbalances by reverse fluorescence in situ hybridisation. As the technique uses genomic DNA for assessment it does not rely on metaphase chromosomes in the test material and thus circumvents technical problems associated with tissue culturing. In the present study, we applied CGH to identify chromosome anomalies in 60 spontaneous abortions of the first trimester, that had failed to grow in culture. In 57 out of 60 cases CGH analyses were successful. The overall aneuploidy rate detected was 72%. Trisomy was the predominant chromosome anomaly accounting for 68.0% of abnormal abortions, followed by triploidy (17.1%) and monosomy X (9.8%). An unbalanced structural rearrangement was found in one (2.4%) abortion. Most frequently involved in trisomies were chromosomes 16 (32.1%), 7 and 22 (10.7% each), 4, 13, 15, and 21 (7.2 % each). Three triploid cases and one complete mole were detected by microsatellite analysis as supplementary method. CGH data on culture failures were compared with data derived from 4693 successfully karyotyped first trimester spontaneous abortions, resulting in a chromosome aberration rate of 64.8%. The distribution of the different chromosome anomalies was similar with the exception of a higher rate of trisomies 7 and of XYY-triploidies in the culture failures. Based on our data we suggest that the genetic contribution to pregnancy loss is still underestimated. Investigating abortion tissues hitherto unassessed by conventional methods, we suggest that the contribution of chromosome aberrations to first trimester pregnancy loss is nearly 70%.

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“…However, large deletions and other gross chromosome aberrations may not be tolerated in the germline or, most probably, in the early development. The results of numerous studies on the human spontaneous abortions clearly show that over 95% of the de novo chromosome abnormalities are eliminated in utero (Boue et al, 1985). This means that the majority of the p53-attributed Figure 2 Spectrum of germline ESTR mutations in males with different p53 genotypes (Kruskal-Wallis test, P ¼ 0.16).…”

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confidence: 99%

p53 deficiency does not affect mutation rate in the mouse germline

2005

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Although the influence of p53 deficiency on somatic genetic stability is well established, its effect in the germline is poorly understood. Mutation rates at two expanded simple tandem repeat (ESTR) loci were studied in the germline of nonexposed and irradiated p53-deficient mice. Spontaneous mutation rates in the homozygous and heterozygous p53-deficient males did not significantly differ from that in the isogenic wild-type mice. Acute exposure to 1 Gy of X rays resulted in a similar increase in mutation rates across males with different p53 genotypes. ESTR mutation spectra did not significantly differ across males with different p53 genotypes. Taken together, these results suggest that p53-deficiency does not affect spontaneous and radiation-induced mutation in the mouse germline.

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Cytogenetics of Pregnancy Wastage

Cited by 126 publications

References 94 publications

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Chromosomal analysis of blastocysts from balanced chromosomal rearrangement carriers

Cytogenetic analyses of culture failures by comparative genomic hybridisation (CGH)–Re-evaluation of chromosome aberration rates in early spontaneous abortions

p53 deficiency does not affect mutation rate in the mouse germline

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