Aneuploidy across individual chromosomes at the embryonic level in trophectoderm biopsies: changes with patient age and chromosome structure

Journal of Assisted Reproduction and Genetics

Volumn 31, Issue 11, 2014, Pages 1501-1509

  Franasiak, Jason M ^a,c   Forman, Eric J ^a,b   Hong, Kathleen H ^a   Werner, Marie D ^a   Upham, Kathleen M ^b   Treff, Nathan R ^a,b   Scott, Richard T ^a,b  

^a ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^b REPRODUCTIVE MEDICINE ASSOCIATES OF NEW JERSEY   (United States)

^c RMA of New Jersey   (United States)

Author keywords

Aneuploidy; CCS; Chromosomal abnormalities; Genetic diagnosis

Indexed keywords

ACROCENTRIC CHROMOSOME; ADULT; ANATOMICAL CONCEPTS; ANEUPLOIDY; ARTICLE; CHROMOSOME 13; CHROMOSOME 15; CHROMOSOME 16; CHROMOSOME 18; CHROMOSOME 19; CHROMOSOME 21; CHROMOSOME 22; CHROMOSOME STRUCTURE; COHORT ANALYSIS; CYTOGENETICS; EMBRYO; FEMALE; GROUPS BY AGE; HUMAN; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL AGE; MONOSOMY; PREVALENCE; REAL TIME POLYMERASE CHAIN REACTION; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; TRISOMY; ANIMAL EMBRYO; BIOPSY; CHROMOSOME DISORDERS; CYTOLOGY; GENETICS; HUMAN CHROMOSOME; INFERTILITY; KARYOTYPING;

ADULT; ANEUPLOIDY; BIOPSY; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN; EMBRYO, MAMMALIAN; FEMALE; HUMANS; INFERTILITY; KARYOTYPING; MATERNAL AGE; RETROSPECTIVE STUDIES;

EID: 84912002113     PISSN: 10580468     EISSN: 15737330     Source Type: Journal    
DOI: 10.1007/s10815-014-0333-x     Document Type: Article

References (26)

1. Hassold T, Hunt P. To ERR (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001;2:280–91.
2. Fragouli E, Wells D. Aneuploidy in the human blastocyst. Cytogenet Genome Res. 2011;133:149–59.
3. Franasiak JM, Forman EJ, Hong KH, Werner MD, Upham KM, Treff NR, et al. The nature of aneuploidy with increasing age of the female partner: a review of 15,169 consecutive trophectoderm biopsies evaluated with comprehensive chromosomal screening. Fertil Steril. 2014;101(3):656–663.e1.
4. Ambartsumyan G, Clark AT. Aneuploidy and early human embryo development. Hum Mol Genet. 2008;17:R10–5.
5. Staessen C, Platteau P, Van Assche E, Michiels A, Tournaye H, Camus M, et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomised controlled trial. Hum Reprod. 2004;19:2849–58.
6. Fritz MA. Perspectives on the efficacy and indications for preimplantation genetic screening: where are we now? Hum Reprod. 2008;23:2617–21.
7. Mastenbroek S, Twisk M, van Echten-Arends J, Sikkema-Raddatz B, Korevaar JC, Verhoeve HR, et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med. 2007;357:9–17.
8. Hardarson T, Hanson C, Lundin K, Hillensjo T, Nilsson L, Stevic J, et al. Preimplantation genetic screening in women of advanced maternal age caused a decrease in clinical pregnancy rate: a randomized controlled trial. Hum Reprod. 2008;23:2806–12.
9. Menasha J, Levy B, Hirschhorn K, Kardon NB. Incidence and spectrum of chromosome abnormalities in spontaneous abortions: new insights from a 12-year study. Genet Med. 2005;7:251–63.
10. Hassold TJ, Jacobs PA. Trisomy in man. Annu Rev Genet. 1984;18:69–97.
11. Fragouli E, Alfarawati S, Spath K, Jaroudi S, Sarasa J, Enciso M, et al. The origin and impact of embryonic aneuploidy. Hum Genet. 2013;132(9):1001–13.
12. Capalbo A, Bono S, Spizzichino L, Biricik A, Baldi M, Colamaria S, et al. Sequential comprehensive chromosome analysis on polar bodies, blastomeres and trophoblast: insights into female meiotic errors and chromosomal segregation in the preimplantation window of embryo development. Hum Reprod Oxf Engl. 2013;28(2):509–18.
13. Fragouli E, Katz-Jaffe M, Alfarawati S, Stevens J, Colls P, Goodall N, et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril. 2010;94(3):875–87.
14. Fragouli E, Alfarawati S, Daphnis DD, Goodall NN, Mania A, Griffiths T, et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod. 2011;26:480–90.
15. Fragouli E, Lensi M, Ross R, Katz-Jaffe M, Schoolcraft WB, Wells D. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod. 2008;23:2596–608.
16. Daphnis DD, Fragouli E, Economou K, Jerkovic S, Craft IL, Delhanty JD, et al. Analysis of the evolution of chromosome abnormalities in human embryos from day 3 to 5 using CGH and FISH. Mol Hum Reprod. 2008;14:117–25.
17. Treff NR, Levy B, Su J, Northrop LE, Tao X, Scott R. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod. 2010;16:583–9.
18. Northrop LE, Treff NR, Levy B, Scott RT. SNP microarray-based 24 chromosome aneuploidy screening demonstrates that cleavage-stage FISH poorly predicts aneuploidy in embryos that develop to morphologically normal blastocysts. Mol Hum Reprod. 2010;16:590–600.
19. Scott RT, Upham KM, Forman EJ, Zhao T, Treff NR. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril. 2013;100(3):624–30.
20. Treff NR, Su J, Tao X, Levy B, Scott RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94:2017–21.
21. Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott RT. Development and validation of an accurate quantitative real-time polymerase chain reaction-based assay for human blastocyst comprehensive chromosomal aneuploidy screening. Fertil Steril. 2012;97:819–24.
22. Forman EJ, Hong KH, Ferry KM, Tao X, Taylor D, Levy B, et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril. 2013;100(1):100–7.
23. Forman EJ, Hong KH, Franasiak JM, Scott Jr RT. Obstetrical and neonatal outcomes from the BEST Trial: single embryo transfer with aneuploidy screening improves outcomes after in vitro fertilization without compromising delivery rates. Am J Obstet Gynecol. 2014;210(2):157.e1–6.
24. Forman EJ, Hong KH, Treff NR, Scott RT. Comprehensive chromosome screening and embryo selection: moving toward single euploid blastocyst transfer. Semin Reprod Med. 2012;30:236–42.
25. Gueye N-A, Devkota B, Taylor D, Pfundt R, Scott Jr RT, Treff NR. Uniparental disomy in the human blastocyst is exceedingly rare. Fertil Steril. 2014;101(1):232–6.
26. Hassold T, Hall H, Hunt P. The origin of human aneuploidy: where we have been, where we are going. Hum Mol Genet. 2007;16(Spec No. 2):R203–8.