Whole-Chromosome Aneuploidy Analysis in Human Oocytes: Focus on Comparative Genomic Hybridization

Obradors, Albert; Rius, Mariona; Daina, Gemma; Ramos, Laia; Benet, Jordi; Navarro, J.

doi:10.1159/000324233

Cited by 14 publications

(9 citation statements)

References 113 publications

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“…This would be consistent with oocytes being donated by women younger than the recipients and in whom lower incidences occur of poor quality oocytes such as those with aneuploidy. 65,66 In comparison to ART outcomes in general, the incidences of BD in donor oocyte neonates are less (ART birth defects RR: 1.32, CI: 1.24-1.42, P = 0.000, I 2 = 47%). 3 The results of this review suggest that the incidences of BD and or congenital malformations are not adversely affected by the use of fresh donor oocytes and that data should be collected on the BD incidences from neonates conceived with cryopreserved donor oocytes.…”

Section: Discussionmentioning

confidence: 99%

A meta-analysis of neonatal health outcomes from oocyte donation

Adams

Clark

Davies

et al. 2015

J Dev Orig Health Dis

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Donated oocytes are a treatment modality for female infertility which is also associated with increased risks of preeclampsia. Subsequently it is important to evaluate if there is concomitant increased risks for adverse neonatal events in donated oocyte neonates. A structured search of the literature using PubMed, EMBASE and Cochrane Reviews was performed to investigate the perinatal health outcomes of offspring conceived from donor oocytes compared with autologous oocytes. Meta-analysis was performed on comparable outcomes data. Twenty-eight studies were eligible and included in the review, and of these, 23 were included in a meta-analysis. Donor oocyte neonates are at increased risk of being born with low birth weight (<2500 g) [risk ratio (RR): 1.18, 95% confidence interval (CI): 1.14-1.22, P-value (P)<0.00001], very low birth weight (<1500 g) (RR: 1.24, CI: 1.15-1.35, P<0.00001), preterm (<37 weeks) (RR: 1.26, CI: 1.23-1.30, P<0.00001), of lower gestational age (mean difference -0.3 weeks, CI: -0.35 weeks to -0.25 weeks, P<0.00001), and preterm with low birth weight (RR: 1.24, CI: 1.19-1.29, P<0.00001), when compared with autologous oocyte neonates. Conversely, low birth weight outcomes were improved in term donor oocyte neonates (RR: 0.86, CI: 0.8-0.93, P=0.0003). These negative outcomes remained significant when controlling for multiple deliveries. The donor oocyte risk rates are higher than those found in general ART outcomes, are important considerations for the counselling of infertile patients and may also influence the long term health of the offspring.

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Section: Discussionmentioning

confidence: 99%

A meta-analysis of neonatal health outcomes from oocyte donation

Adams

Clark

Davies

et al. 2015

J Dev Orig Health Dis

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“…These chromosome errors could be due to meiotic errors of paternal and/or maternal origins. Although spermatozoa from men with severe oligoasthenoteratozoospermia have increased aneuploidy rates [ 28 ], the estimated aneuploidy rate is less than 5% [ 29 , 30 ], which is much lower than the reported aneuploidy rate of the oocytes (22–57.1%) [ 31 ]. Thus the observed errors are likely due to meiotic errors that occurred during oogenesis.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, a low incidence of meiotic error was expected. Aneuploidy rates of 3–17.9% based on CGH of polar bodies have been reported for young women [ 31 , 33 ].…”

Section: Discussionmentioning

confidence: 99%

Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage

Chow

Yeung

Lau

et al. 2014

Reprod Biol Endocrinol

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BackgroundEmbryos produced by in vitro fertilization (IVF) have a high level of aneuploidy, which is believed to be a major factor affecting the success of human assisted reproduction treatment. The aneuploidy rate of cleavage stage embryos based on 1–2 biopsied blastomeres has been well-reported, however, the true aneuploidy rate of whole embryos remain unclear because of embryo mosaicism. To study the prevalence of mosaicism in top quality IVF embryos, surplus embryos donated from young patients (aged 28–32) in the assisted reproduction program at Queen Mary Hospital, Hong Kong were used.MethodsThirty-six good quality day 2 embryos were thawed. Out of the 135 blastomeres in these embryos, 121 (89.6%) survived thawing. Twelve of these embryos without lysed blastomeres and which cleaved to at least seven cells after a 24-h culture were dissembled into individual blastomeres, which were analysed by array comparative genomic hybridization and microsatellite marker analysis by fluorescent PCR.ResultsOut of 12 day-3 embryos, 2 (16.7%) were normal, 3 (25%) were diploid/aneuploidy with <38% abnormality, 4 (33.3%) were diploid/aneuploidy mosaic with > =38% abnormality, and three (25%) were mosaic aneuploids. Conclusive chromosomal data were obtained from a high percentage of blastomeres (92.8%, 90/97). Microsatellite marker analysis performed on blastomeres in aneuploid embryos enabled us to reconstruct the chromosomal status of the blastomeres in each cleavage division. The results showed the occurrence of meiotic errors in 3 (25%) of the studied embryos. There were 16 mitotic errors (18.8%, 16/85) in the 85 mitotic divisions undertaken by the studied embryos. The observed mitotic errors were mainly contributed by endoreduplication (31.3%, 5/16), non-disjunction (25%, 4/16) and anaphase lagging (25%, 4/16). Chromosome breakages occurred in 6 divisions (7.1%, 6/85).ConclusionsMosaicism occurs in a high percentage of good-quality cleavage stage embryos and mitotic errors contribute significantly to the abnormality.Electronic supplementary materialThe online version of this article (doi:10.1186/1477-7827-12-105) contains supplementary material, which is available to authorized users.

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“…The occurrence of maternal germinal mosaicism as a predisposing factor has previously been implicated in a number of T21 (and other aneuploidy) cases through studies of oocytes and polar bodies, obtained for research in connection with in vitro fertilization (IVF) treatment [ 9 , 15 ]. It is noteworthy, though, that recent studies on human oocytes, retrieved in relation to IVF treatment, indicate that the types and frequency of maternal meiotic segregation errors differ substantially from those occurring in natural conception [ 2 ].…”

Section: Discussionmentioning

confidence: 99%

Maternal Germinal Trisomy 21 in Down Syndrome

Hultén

Öijerstedt

Iwarsson

et al. 2014

JCM

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It has now been over 50 years since it was discovered that Down syndrome is caused by an extra chromosome 21, i.e., trisomy 21. In the interim, it has become clear that in the majority of cases, the extra chromosome is inherited from the mother, and there is, in this respect, a strong maternal age effect. Numerous investigations have been devoted to clarifying the underlying mechanism, most recently suggesting that this situation is exceedingly complex, involving both biological and environmental factors. On the other hand, it has also been proposed that germinal trisomy 21 mosaicism, arising during the very early stages of maternal oogenesis with accumulation of trisomy 21 germ cells during subsequent development, may be the main predisposing factor. We present data here on the incidence of trisomy 21 mosaicism in a cohort of normal fetal ovarian samples, indicating that an accumulation of trisomy 21 germ cells does indeed take place during fetal oogenesis, i.e., from the first to the second trimester of pregnancy. We presume that this accumulation of trisomy 21 (T21) cells is caused by their delay in maturation and lagging behind the normal cells. We further presume that this trend continues during the third trimester of pregnancy and postnatally, up until ovulation, thereby explaining the maternal age effect in Down syndrome.

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Whole-Chromosome Aneuploidy Analysis in Human Oocytes: Focus on Comparative Genomic Hybridization

Cited by 14 publications

References 113 publications

A meta-analysis of neonatal health outcomes from oocyte donation

A meta-analysis of neonatal health outcomes from oocyte donation

Array comparative genomic hybridization analyses of all blastomeres of a cohort of embryos from young IVF patients revealed significant contribution of mitotic errors to embryo mosaicism at the cleavage stage

Maternal Germinal Trisomy 21 in Down Syndrome

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