Reply: Questions about the accuracy of polar body analysis for preimplantation genetic screening

Capalbo, Antonio; Bono, Sara; Spizzichino, Letizia; Biricik, Anıl; Baldi, Marina; Colamaria, Silvia; Ubaldi, Filippo Maria; Rienzi, Laura; Fiorentino, Francesco

doi:10.1093/humrep/det070

Cited by 4 publications

(3 citation statements)

References 16 publications

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“…Когезин, удерживающий гомологичные хромосомы, расщепляется в анафазе MI, тогда как когезин, удерживающий сестринские хроматиды, должен сохраняться дольше, чтобы сестринские хроматиды оставались связанными до анафазы MII. Более 90% мейотических хромосомных ошибок возникают из-за преждевременного разделения сестринских хроматид [34]. В MI может происходить инвертированная сегрегация хромосом, при которой в анафазе расходятся сестринские хроматиды, а не гомологичные хромосомы; частота этого явления в ооцитах человека резко увеличивается с возрастом матери [35].…”

Section: обзорыunclassified

Chromosomal Aberrations as a Biological Phenomenon in Human Embryonic Development

Ivanova,

Semenova

2023

Acta Naturae

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Frequent chromosomal abnormalities are a distinctive feature of early embryonic development in mammals, especially humans. Aneuploidy is considered as a contributing factor to failed embryo implantation and spontaneous abortions. In the case of chromosomal mosaicism, its effect on the potency of embryos to normally develop has not been sufficiently studied. Although, a significant percentage of chromosomal defects in early human embryos are currently believed to be associated with the features of clinical and laboratory protocols, in this review, we focus on the biological mechanisms associated with chromosomal abnormalities. In particular, we address the main events in oocyte meiosis that affects not only the genetic status of an unfertilized oocyte, but also further embryo viability, and analyze the features of first cleavage divisions and the causes of frequent chromosomal errors in early embryonic development. In addition, we discuss current data on self-correction of the chromosomal status in early embryos.

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Section: обзорыunclassified

Chromosomal Aberrations as a Biological Phenomenon in Human Embryonic Development

Ivanova,

Semenova

2023

Acta Naturae

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“…Today this method is not a common practice. This method has more disadvantages than advantages such as lack of information for aneuploidies of paternal and mitotic origin; need of analysis of a huge amount of polar bodies and therefore unnecessary work and kits for diagnostic (some of the oocytes will not be fertilized and some of the zygotes will not reach the blastocyst stage); being highly expensive; chance for aneuploidy compensation (2–4%) [18]; high risk of aneuploidy (32.5%) [19]. Some advantages of this “early biopsy” are the diagnostics of oocytes themselves and female infertility, lack of mosaicism, and the minimal risk of affecting the embryo during the biopsy.…”

Section: Oocyte Polar Body Biopsymentioning

confidence: 99%

New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Milachich

2014

BioMed Research International

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The current morphologically based selection of human embryos for transfer cannot detect chromosome aneuploidies. So far, only biopsy techniques have been able to screen for chromosomal aneuploidies in the in vitro fertilization (IVF) embryos. Preimplantation genetic diagnosis (PGD) or screening (PGS) involves the biopsy of oocyte polar bodies or embryonic cells and has become a routine clinical procedure in many IVF clinics worldwide, including recent development of comprehensive chromosome screening of all 23 pairs of chromosomes by microarrays for aneuploidy screening. The routine preimplantation and prenatal genetic diagnosis (PND) require testing in an aggressive manner. These procedures may be invasive to the growing embryo and fetus and potentially could compromise the clinical outcome. Therefore the aim of this review is to summarize not only the new knowledge on preimplantation and prenatal genetic diagnosis in humans, but also on the development of potential noninvasive embryo and fetal testing that might play an important role in the future.

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“…Presently, three methods of biopsy are in current practice, namely, polar body biopsy of oocytes, blastomere biopsy of cleavage-stage embryos, and trophectoderm (TE) biopsy of blastocysts [3,7]. Polar body biopsy, which involves removing the first and second polar bodies, is less invasive but can only be used to detect maternally derived aneuploidies or mutations [8][9][10][11]. Blastomere biopsy, which removes one to two cells from the six-to eight-cell embryos, Electronic supplementary material The online version of this article (doi:10.1007/s10815-016-0667-7) contains supplementary material, which is available to authorized users.…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

Zhang

Wang

et al. 2016

J Assist Reprod Genet

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Background Preimplantation genetic testing (PGT) requires an invasive biopsy to obtain embryonic material for genetic analysis. The availability of a less invasive procedure would increase the overall efficacy of PGT. The aim of the study was to explore the potential of blastocoele fluid (BF) as an alternative source of embryonic DNA for PGT. Methods Collection of BF was performed by aspiration with a fine needle prior to vitrification. BF DNA was subjected to whole-genome amplification (WGA) and analyzed by highresolution next-generation sequencing (NGS). Results A high-quality WGA product was obtained from 8 of 11 (72.7 %) samples. Comparison of matching BF and blastomere samples showed that the genomic representation of sequencing reads was consistently similar with respect to density and regional coverage across the 24 chromosomes. A genome-wide survey of the sample sequencing data also indicated that BF was highly representative of known single gene sequences, and this observation was validated by PCR analyses of ten randomly selected genes, with an overall efficiency of 84 %. Conclusion This study provides further evidence that BF is a promising alternative source of DNA for PGT.

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Reply: Questions about the accuracy of polar body analysis for preimplantation genetic screening

Cited by 4 publications

References 16 publications

Chromosomal Aberrations as a Biological Phenomenon in Human Embryonic Development

Chromosomal Aberrations as a Biological Phenomenon in Human Embryonic Development

New Advances of Preimplantation and Prenatal Genetic Screening and Noninvasive Testing as a Potential Predictor of Health Status of Babies

Molecular analysis of DNA in blastocoele fluid using next-generation sequencing

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