Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage

Al‐Asmar, Nasser; Peinado, Vanessa; Vera, M.; Remohı́, J.; Pellicer, António; Simón, Carlos; Hassold, Terry; Rubio, Carmen

doi:10.1016/j.fertnstert.2012.03.035

Cited by 21 publications

(12 citation statements)

References 32 publications

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“…Previous studies on PGS with FISH analysis of a 9-chromosome panel showed high rates of abnormal embryos, ranging from 48.1% to 71.2% [57, 58], which is in agreement with the percentage of 71.5% observed in our study with 24-chromosome analysis.…”

Section: Resultssupporting

confidence: 93%

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

Rodrigo

Mateu

Mercader

et al. 2014

BioMed Research International

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The objective of this study was to evaluate the usefulness of comprehensive chromosome screening (CCS) using array comparative genomic hybridization (aCGH). The study included 1420 CCS cycles for recurrent miscarriage (n = 203); repetitive implantation failure (n = 188); severe male factor (n = 116); previous trisomic pregnancy (n = 33); and advanced maternal age (n = 880). CCS was performed in cycles with fresh oocytes and embryos (n = 774); mixed cycles with fresh and vitrified oocytes (n = 320); mixed cycles with fresh and vitrified day-2 embryos (n = 235); and mixed cycles with fresh and vitrified day-3 embryos (n = 91). Day-3 embryo biopsy was performed and analyzed by aCGH followed by day-5 embryo transfer. Consistent implantation (range: 40.5–54.2%) and pregnancy rates per transfer (range: 46.0–62.9%) were obtained for all the indications and independently of the origin of the oocytes or embryos. However, a lower delivery rate per cycle was achieved in women aged over 40 years (18.1%) due to the higher percentage of aneuploid embryos (85.3%) and lower number of cycles with at least one euploid embryo available per transfer (40.3%). We concluded that aneuploidy is one of the major factors which affect embryo implantation.

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Section: Resultssupporting

confidence: 93%

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

Rodrigo

Mateu

Mercader

et al. 2014

BioMed Research International

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“…karyotype) of RPOC has revealed that a large proportion of these spontaneous miscarriages are a result of chromosomal abnormalities, including autosomal trisomy (68.8%), polyploidy, chromosome × monosomy (2.1%) and structural rearrangements [17]. In line with other studies, no risk difference of chromosomal abnormalities, between using IVF without ICSI versus IVF with ICSI was noted [17,18].…”

Section: Open Accesssupporting

confidence: 80%

“…It has been reported, that subfertile couples with long preconception periods have a greater risk for miscarriage (30% vs 15%) [16]; taking to account, that maternal age plays the main role, due to the high incidence of aneuploid oocytes (ranging from 36.4% -69.23%) [1,5,7,16,17]. The age-related effect has been reported, to be caused by the extended duration of time that the oocyte spends arrested in meiosis I, leading to nondisjunction events [1,17,18]. Cytogenetic analysis (e.g.…”

Section: Open Accessmentioning

confidence: 99%

Medical versus surgical treatment for early pregnancy loss in infertile patients: Which approach facilitates more rapid return to subsequent treatment cycle?

Vallejo¹,

Cotton²,

Lee³

et al. 2012

OJOG

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“…Preimplantation genetic diagnosis (PGD) for aneuploidy screening of embryos derived from patients undergoing IVF, also termed preimplantation genetic screening (PGS), enables the assessment of the numeral and structural chromosomal constitution of embryos before transfer. It has been applied to treat patients with increased risk for aneuploid embryos, and then introduced into clinical practice to improve the chance of healthy conceptions after infertility treatment with poor prognoses, such as advanced maternal age, repeated implantation failure, and recurrent miscarriage [8, 9]. A latest research reviewed literatures on PGS for aneuploidy with analysis of all chromosomes showed that embryo implantation rates could be significantly increased by the transfer screened euploid embryos [10].…”

Section: Introductionmentioning

confidence: 99%

Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos

Zheng

Jin²,

Liu³

et al. 2015

Mol Cytogenet

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BackgroundAneuploidy is a leading cause of repeat implantation failure and recurrent miscarriages. Preimplantation genetic screening (PGS) enables the assessment of the numeral and structural chromosomal errors of embryos before transfer in patients undergoing in vitro fertilization. Array comparative genomic hybridization (aCGH) has been demonstrated to be an accurate PGS method and in present thought to be the gold standard, but new technologies, such as next-generation sequencing (NGS), continue to emerge. Validation of the new comprehensive NGS-based 24-chromosome aneuploidy screening technology is still needed to determine the preclinical accuracy before it might be considered as an alternative method for human PGS.ResultsIn the present study, 43 human trophectoderm (TE) biopsy samples and 5 cytogenetically characterized cell lines (Coriell Cell Repositories) were tested. The same whole genome amplified product of each sample was blindly assessed with Veriseq NGS and Agilent aCGH to identify the aneuploidy status. The result showed that the NGS identified all abnormalities identified in aCGH including the numeral chromosomal abnormalities (again or loss) in the embryo samples and the structural (partial deletion and duplication) in the Coriell cell lines. Both technologies can identify a segmental imbalance as small as 1.8 Mb in size. Among the 41 TE samples with abnormal karyotypes in this study, eight (19.5 %) samples presented as multiple chromosome abnormalities. The abnormalities occurred to almost all chromosomes, except chromosome 6, 7, 17 and Y chromosome.ConclusionsGiven its reliability and high level of consistency with an established aCGH methodology, NGS has demonstrated a robust high-throughput methodology ready for extensive clinical application in reproductive medicine, with potential advantages of reduced costs and enhanced precision. Then, a randomized controlled clinical trial confirming its clinical effectiveness is advisable to obtain a larger sequencing dataset and more evidence for the extensive use of NGS-based PGS.

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Chromosomal abnormalities in embryos from couples with a previous aneuploid miscarriage

Cited by 21 publications

References 32 publications

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

New Tools for Embryo Selection: Comprehensive Chromosome Screening by Array Comparative Genomic Hybridization

Medical versus surgical treatment for early pregnancy loss in infertile patients: Which approach facilitates more rapid return to subsequent treatment cycle?

Application of next-generation sequencing for 24-chromosome aneuploidy screening of human preimplantation embryos

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