Top

Journal of Assisted Reproduction and Genetics

Published in:

01-11-2016 | Commentary

Should preimplantation genetic screening (PGS) be implemented to routine IVF practice?

Authors: Raoul Orvieto, Norbert Gleicher

Published in: Journal of Assisted Reproduction and Genetics | Issue 11/2016

Excerpt

As compared to day 3 blastomere (spp) biopsy followed by fluorescence in situ hybridization (FISH), PGS 1.0 [1], the utilization of trophectoderm biopsy (days 5–6 embryos) combined with comprehensive chromosome screening (CCS) tests for embryonic aneuploidy, PGS 2.0, has been suggested to improve in vitro fertilization (IVF) outcome [2], though not without criticisms [3, 4]. Here, we draw attention to several underlying factors that will influence decisions to employ PGS 2.0 in routine clinical practice. …

Mastenbroek S, Twisk M, van der Veen F, Repping S. Preimplantation genetic screening: a systematic review and meta-analysis. Hum Reprod Update. 2011;17:454–546.CrossRefPubMed

Werner MD, Scott Jr RT, Treff NR. 24-chromosome PCR for aneuploidy screening. Curr Opin Obstet Gynecol. 2015;27:201–5.CrossRefPubMed

Gleicher N, Kushnir VA, Barad DH. Preimplantation genetic screening (PGS) still in search of a clinical application: a systematic review. Reprod Biol Endocrinol. 2014;12:22.CrossRefPubMedPubMedCentral

Mastenbroek S, Repping S. Preimplantation genetic screening: back to the future. Hum Reprod. 2014;29:1846–50.CrossRefPubMed

Munné S, Wells D, Cohen J. Technology requirements for preimplantation genetic diagnosis to improve assisted reproduction outcomes. Fertil Steril. 2010;94:408–30.CrossRefPubMed

Taylor TH, Gitlin SA, Patrick JL, Crain JL, Wilson JM, Griffin DK. The origin, mechanisms, incidence and clinical consequences of chromosomal mosaicism in humans. Hum Reprod Update. 2014;20:571–81.CrossRefPubMed

Chow JFC, Yeung WSB, Lau EYL, Lee VCY, Ng EHY, Ho PC. 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. Reprod Biol Endocrinol. 2014;12:105.CrossRefPubMedPubMedCentral

Liu J, Wang W, Sun X, Liu L, Jin H, Li M, et al. DNA microarray reveals that high proportions of human blastocysts from women of advanced maternal age are aneuploid and mosaic. Biol Reprod. 2012;87:1–9.CrossRef

Johnson DS, Cinnioglu C, Ross R, Filby A, Gemelos G, Hill M, et al. Comprehensive analysis of karyotypic mosaicism between trophectoderm and inner cell mass. Mol Hum Reprod. 2010;16:944–9.CrossRefPubMedPubMedCentral

10.

Escudero T, Ribustello L, Sumarocca M, Munné S. Next generation sequencing (NGS) for preimplantation genetic screening (PGS) discovers mosaicism is independent of age. Fertil Steril. 2016;10(Suppl):e19. P-21.

11.

Tortoriello D, Dayal M, Beyhan Z, Yakut T, Keskintepe L, Reanalysis of human blastocysts with different molecular genetic screening platforms reveals significant discordance in ploidy status. JARG in same issue. doi:10.1007/s10815-016-0766-5

12.

Yuen RK, Robinson WP. Review: a high capacity of the human placenta for genetic and epigenetic variation: implications for assessing pregnancy outcome. Placenta. 2011;32 Suppl 2:S136–41.CrossRefPubMed

13.

Bolton H, Graham SJL, Van der Aa N, Kumar P, Theunis K, Gallardo EF, et al. Mouse model of chromosome mosaicism reveals lineage-specific depletion of aneuploid cells and normal development potential. Nat Commun. 2016;7:11165.CrossRefPubMedPubMedCentral

14.

Orvieto R, Shuly Y, Brengauz M, Feldman B. Should pre-implantation genetic screening be implemented to routine clinical practice. Gynecol Endocrinol. 2016;12:1–3.

15.

Gleicher N, Vidali A, Braverman J, Kushnir VA, Barad DH Hudson C, Wu YG, Wang Q, Zhang L Albertini DF. Accuracy of preimplantation genetic screening (PGS) is compromised by degree of mosaicism of human embryos. Reproductive Biology and Endocrinology 2016;14(1):54. doi:10.1186/s12958-016-0193-6.

16.

Greco E, Minasi MG, Fiorentino F. Healthy Babies after Intrauterine Transfer of Mosaic Aneuploid Blastocysts. N Engl J Med. 2015;73:2089–90.CrossRef

17.

Dahdouh EM, Balayla J, García-Velasco JA. Comprehensive chromosome screening improves embryo selection: a meta-analysis. Fertil Steril. 2015;104:1503–12.CrossRefPubMed

18.

Gleicher N, Kushnir VA, Barad DH. The impact of patient preselection on reported IVF outcomes. J Assist Reprod Genet. 2016;33(4):455–9.CrossRefPubMed

19.

Kushnir VA, Darmon SK, Albertini DF, Barad DH, Gleicher N. Effectiveness of in vitro fertilization with preimplantation genetic screening: a reanalysis of United States assisted reproductive technology data 2011–2012. Fertil Steril. 2016;106(1):75–9.CrossRefPubMed

20.

Paulson RJ. Every last baby out of every last egg: the appropriate goal for fertility treatment in women older than 40 years. Fertil Steril. 2016;105:1443–4.CrossRefPubMed

21.

Orvieto R. Preimplantation genetic screening- the required RCT that has not yet been carried out. Reprod Biol Endocrinol. 2016;14:35.CrossRefPubMedPubMedCentral

Title: Should preimplantation genetic screening (PGS) be implemented to routine IVF practice?
Authors: Raoul Orvieto
Norbert Gleicher
Publication date: 01-11-2016
Publisher: Springer US
Published in: Journal of Assisted Reproduction and Genetics / Issue 11/2016
Print ISSN: 1058-0468
Electronic ISSN: 1573-7330
DOI: https://doi.org/10.1007/s10815-016-0801-6

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Should preimplantation genetic screening (PGS) be implemented to routine IVF practice?

Excerpt

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Excerpt

Please log in to get access to this content

Other articles of this Issue 11/2016

Differential expression pattern of Twist1 in mouse preimplantation embryos suggests its multiple roles during early development

Polymorphisms of ICAM-1 and IL-6 genes related to endometriosis in a sample of Brazilian women

Delayed intracytoplasmic sperm injection (ICSI) with trophectoderm biopsy and preimplantation genetic screening (PGS) show increased aneuploidy rates but can lead to live births with single thawed euploid embryo transfer (STEET)

Human embryo mosaicism: did we drop the ball on chromosomal testing?

The effect of chromosomal polymorphisms on the outcomes of fresh IVF/ICSI–ET cycles in a Chinese population

Building a model to increase live birth rate through patient-specific optimization of embryo transfer day