Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer

Munné, Santiago; Sultan, Khalid M.; Weier, Heinz‐Ulrich G.; Grifo, James A.; Cohen, Jacques; Rosenwaks, Zev

doi:10.1016/0002-9378(95)91479-x

Cited by 134 publications

(59 citation statements)

References 41 publications

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“…These abnormalities may affect the viability of postimplantation embryos or result in abnormal fetuses. Munne et al(1995) indicated that aged female has a much higher proportion of embryos with normal appearance but abnormal genes, especially chromosomal aneuploidies, compared with younger ones. As we know, motor proteins and protein kinases are necessary for spindle assembly and chromosome alignment (EichenlaubRitter, 1998).…”

Section: Mitochondria and Meiosis In Oocytesmentioning

confidence: 99%

Mitochondrial functions on oocytes and preimplantation embryos

Wang

Zou

et al. 2009

J. Zhejiang Univ. Sci. B

131

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Oocyte quality has long been considered as a main limiting factor for in vitro fertilization (IVF). In the past decade, extensive observations demonstrated that the mitochondrion plays a vital role in the oocyte cytoplasm, for it can provide adenosine triphosphate (ATP) for fertilization and preimplantation embryo development and also act as stores of intracellular calcium and proapoptotic factors. During the oocyte maturation, mitochondria are characterized by distinct changes of their distribution pattern from being homogeneous to heterogeneous, which is correlated with the cumulus apoptosis. Oocyte quality decreases with the increasing maternal age. Recent studies have shown that low quality oocytes have some age-related dysfunctions, which include the decrease in mitochondrial membrane potential, increase of mitochondrial DNA (mtDNA) damages, chromosomal aneuploidies, the incidence of apoptosis, and changes in mitochondrial gene expression. All these dysfunctions may cause a high level of developmental retardation and arrest of preimplantation embryos. It has been suggested that these mitochondrial changes may arise from excessive reactive oxygen species (ROS) that is closely associated with the oxidative energy production or calcium overload, which may trigger permeability transition pore opening and subsequent apoptosis. Therefore, mitochondria can be seen as signs for oocyte quality evaluation, and it is possible that the oocyte quality can be improved by enhancing the physical function of mitochondria. Here we reviewed recent advances in mitochondrial functions on oocytes.

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Section: Mitochondria and Meiosis In Oocytesmentioning

confidence: 99%

Mitochondrial functions on oocytes and preimplantation embryos

Wang

Zou

et al. 2009

J. Zhejiang Univ. Sci. B

131

View full text Add to dashboard Cite

show abstract

“…Other authors drill the zona and then aspirate the blastomere or exert pressure on the zona to push the blastomere out through the hole (10)(11)(12). Among these techniques of embryo biopsy, zona drilling and blastomere aspiration using different micropipettes are the most prevalent at centers of preimplantation genetic diagnosis (13,14). However, it is inconvenient and time-consuming to change the drilling micropipette for the biopsy micropipette.…”

Section: Introductionmentioning

confidence: 99%

A simplified technique for embryo biopsy: Use of the same micropipette for zona drilling and blastomere aspiration

Chen

Chao

et al. 1997

J Assist Reprod Genet

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Section: The Current Status Of Pgd and Pgsmentioning

confidence: 99%

“…Also FISH is not a very efficient technique to use at the single cell level (Ruangvutilert et al, 2000). At this time, some groups decided that PGD technology using FISH to analyse as many chromosomes as possible might be useful as an embryo selection method for patients of advanced maternal age, repeated implantation failure or repeated miscarriage (when the chromosomes in the parents were normal) (Munné et al, 1995, Verlinsky et al 1995.This technique is usually referred to as preimplantation genetic screening (PGS) and should be differentiated from PGD as it is for a different group of patients and for a different reason.Testing by PCR PGD for couples at risk of a single gene disorder is usually performed using PCR (Harper and SenGupta, 2011). This technique has become highly sophisticated over the years, with one of the most important developments being multiplex PCR which allows the analysis of the mutation and also a contamination check (Harton et al, 2011b The mutation site can be included for amplification in the multiplex reaction.…”

mentioning

confidence: 99%

Quality control standards in PGD and PGS

SenGupta

Dhanjal

Harper

2016

Reproductive BioMedicine Online

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The aim of PGD is to test the preimplantation embryo for specific conditions for couples at risk of transmitting that genetic abnormality to their offspring.The couple need to go through IVF procedures to generate embryos in vitro.The embryos can be biopsied at either the zygote, cleavage or blastocyst stage. PGS uses the same technology to screen for chromosome abnormalities in embryos from patients going through IVF procedures as a method of embryo selection. Chromosome analysis was originally performed using fluorescent in situ hybridisation (FISH) which has now been replaced by array comparative genomic hybridisation or next generation sequencing (NGS) For the diagnosis of single gene defects, the polymerase chain reaction (PCR) has been used and has become highly developed over the years. More recently, SNP arrays and karyomapping have been introduced. PGD/PGS require partnership between IVF laboratories and diagnostic centres. As diagnosis can be performed using a variety of strategies with different technologies, accreditation of PGD diagnostic laboratories is important. Accreditation gives IVF centres an assurance that the diagnostic tests conform to specified standards. ISO 15189 is an international laboratory standard specific for medical laboratories. A requirement for accreditation is to participate in external quality assessment schemes Key wordsQuality control, Preimplantation genetic diagnosis 3 The current status of PGD and PGSInitial clinical application of PGD PGD was first performed in 1989 and since this time, genetic testing has seen major advances. PGD was developed as an alternative to prenatal diagnosis, for couples at risk of transmitting a genetic abnormality to their children.Couples have to go through IVF procedures to generate embryos in vitro, even though many of the couples that go through PGD are fertile. The embryos can be biopsied by the embryologists at the zygote stage (removal of the first and second polar body), cleavage stage (removal of 1-2 blastomeres from the 6-8 cell embryo) and blastocyst stage (removal of some trophectoderm cells) (Harton et al., 2011a). Up until recently, almost all PGD cycles were performed on blastomeres after cleavage stage biopsy (Harper et al, 2012, Moutou et al, 2014, but numerous studies have found that cleavage stage embryos exhibit high levels of chromosomal mosaicism, which means that biopsied cells may not be representative of the rest of the embryo (Harper et al, 1995, Munne et al, 1995, Fragouli et al, 2011, Taylor et al, 2014a. This is especially important when trying to perform PGD for a chromosome abnormality. Polar body biopsy is rarely used as it only gives genetic information on the maternal genome. In recent years, the IVF community have seen an increase in the use of blastocyst transfer (Glujovsky et al, 2012) and this has been reflected in the increased use of blastocyst biopsy for PGD (Moutou et al, 2014).The genetic testing should be performed by a specialised genetic testing laboratory. The very first cases of PGD wer...

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Assessment of numeric abnormalities of X, Y, 18, and 16 chromosomes in preimplantation human embryos before transfer

Cited by 134 publications

References 41 publications

Mitochondrial functions on oocytes and preimplantation embryos

Mitochondrial functions on oocytes and preimplantation embryos

A simplified technique for embryo biopsy: Use of the same micropipette for zona drilling and blastomere aspiration

Quality control standards in PGD and PGS

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