The short comparative genomic hybridization (short-CGH) method was used to perform a comprehensive cytogenetic study of isolated blastomeres from advanced maternal age embryos, discarded after fluorescent in situ hybridization (FISH) preimplantation genetic screening (PGS), detecting aneuploidies (38.5% of which corresponded to chromosomes not screened by 9-chromosome FISH), structural aberrations (31.8%), and mosaicism (77.3%). The short-CGH method was subsequently applied in one PGS, achieving a twin pregnancy.
"In addition, the sensitivity is limited for traditional CGH (5–10 Mbp). Recently, a faster (12-hour protocol) and more sensitive method (detecting translocation) was developed to improve these shortcomings [25, 26]. "
[Show abstract][Hide abstract] ABSTRACT: Most in vitro fertilization (IVF) experts and infertility patients agree that the most ideal assisted reproductive technology (ART) outcome is to have a healthy, full-term singleton born. To this end, the most reliable policy is the single-embryo transfer (SET). However, unsatisfactory results in IVF may result from plenty of factors, in which aneuploidy associated with advanced maternal age is a major hurdle. Throughout the past few years, we have got a big leap in advancement of the genetic screening of embryos on aneuploidy, translocation, or mutations. This facilitates a higher success rate in IVF accompanied by the policy of elective SET (eSET). As the cost is lowering while the scale of genome characterization continues to be up over the recent years, the contemporary technologies on trophectoderm biopsy and freezing-thaw, comprehensive chromosome screening (CCS) with eSET appear to be getting more and more popular for modern IVF centers. Furthermore, evidence has showen that, by these avant-garde techniques (trophectoderm biopsy, vitrification, and CCS), older infertile women with the help of eSET may have an opportunity to increase the success of their live birth rates approaching those reported in younger infertility patients.
Obstetrics and Gynecology International 06/2014; 2014(5915):581783. DOI:10.1155/2014/581783
"Finally, centric fission has been characterized as an important driver of karyotype evolution [Perry et al., 2004] and i(p) and i(q) formation is an important mechanism in UPID etiology [Kotzot, 2001, 2008]. We, as well as other groups, demonstrate that the cleavage stage embryo is prone to (peri-)centric instability or centric fission resulting in i(p) or i(q) chromosome formation in human cleavage stage embryogenesis [Wells and Delhanty, 2000; Vanneste et al., 2009; Rius et al., 2010]. "
[Show abstract][Hide abstract] ABSTRACT: Early human in vitro fertilized embryos frequently accumulate whole chromosome aneuploidies and segmental imbalances. This embryonic chromosomal instability does not necessarily undermine normal human development, but it may lead to loss of conception, genetic disease, and genetic variation development. In this review we provide an overview of how this instability of chromosomes arises and evolves during early human embryogenesis.
Seminars in Reproductive Medicine 08/2012; 30(4):302-8. DOI:10.1055/s-0032-1313909 · 2.35 Impact Factor
"It was with the development of metaphase comparative genomic hybridization (CGH) using DOP-amplified single cell DNA that the extent of whole-chromosome imbalances could be probed genome-wide. For the first time also segmental chromosome imbalances were reported in approximately 7–32% of the embryos (Voullaire et al., 2000, 2002; Wells and Delhanty, 2000; Wilton, 2005; Daphnis et al., 2008; Rius et al., 2011). Mosaicism for whole-chromosome aneuploidies was detected in up to 75% of human cleavage stage embryos (Wells and Delhanty, 2000; Voullaire et al., 2002). "
[Show abstract][Hide abstract] ABSTRACT: Microarray analysis enables the genome-wide detection of copy number variations and the investigation of chromosomal instability. Whereas array techniques have been well established for the analysis of unamplified DNA derived from many cells, it has been more challenging to enable the accurate analysis of single cell genomes. In this review, we provide an overview of single cell DNA amplification techniques, the different array approaches, and discuss their potential applications to study human embryos.
Frontiers in Genetics 03/2012; 3:44. DOI:10.3389/fgene.2012.00044
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