Embryo biopsy for aneuploidy detection in the general infertility population

Seminars in Reproductive Medicine

Volumn 32, Issue 2, 2014, Pages 100-106

  Kaser, Daniel J ^a   Ginsburg, Elizabeth S ^a  

^a BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

aneuploidy; comprehensive chromosome screening; fluorescence in situ hybridization; preimplantation genetic screening; trophectoderm biopsy

Indexed keywords

ANEUPLOIDY; ARTICLE; BIOPSY; BIRTH RATE; CHROMOSOME; COMPREHENSIVE CHROMOSOME SCREENING; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC SCREENING; HUMAN; INFERTILITY; LIVE BIRTH; MEDICAL TECHNOLOGY; MICROARRAY ANALYSIS; OUTCOME ASSESSMENT; POLYMERASE CHAIN REACTION; PREIMPLANTATION GENETIC SCREENING; PROGNOSIS; QUANTITATIVE ANALYSIS; VALIDATION STUDY; BLASTOCYST; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETICS; METHODOLOGY; PATHOLOGY; PREGNANCY; PRENATAL DIAGNOSIS; REVIEW;

ANEUPLOIDY; BIOPSY; BLASTOCYST; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INFERTILITY; PREGNANCY; PREIMPLANTATION DIAGNOSIS;

EID: 84904197362     PISSN: 15268004     EISSN: 15264564     Source Type: Journal    
DOI: 10.1055/s-0033-1363551     Document Type: Article

References (33)

1. Verlinsky Y., Cieslak J., Freidine M., et al. Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent in-situ hybridization. Hum Reprod: 1995; 10 7 1923 1927
2. Brezina P. R., Elias R. T., Schattman G., Kearns W. G. Preimplantation genetic testing: aAvailable and emerging technologies. In: Racowsky C., Ginsburg E. S., eds. In Vitro Fertilization. New York Springer: 2012; 115 143
3. Mastenbroek S., Twisk M., van Echten-Arends J., et al. In vitro fertilization with preimplantation genetic screening. N Engl J Med: 2007; 357 1 9 17
4. Staessen C., Platteau P., Van Assche E., et al. Comparison of blastocyst transfer with or without preimplantation genetic diagnosis for aneuploidy screening in couples with advanced maternal age: a prospective randomized controlled trial. Hum Reprod: 2004; 19 12 2849 2858
5. Rubio C., Bellver J., Rodrigo L., et al. Preimplantation genetic screening using fluorescence in situ hybridization in patients with repetitive implantation failure and advanced maternal age: two randomized trials. Fertil Steril: 2013; 99 5 1400 1407
6. Platteau P., Staessen C., Michiels A., Van Steirteghem A., Liebaers I., Devroey P. Preimplantation genetic diagnosis for aneuploidy screening in patients with unexplained recurrent miscarriages. Fertil Steril: 2005; 83 2 393 397, quiz 525-526
7. Munné S., Sandalinas M., Escudero T., et al. Improved implantation after preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online: 2003; 7 1 91 97
8. Fragouli E., Katz-Jaffe M., Alfarawati S., et al. Comprehensive chromosome screening of polar bodies and blastocysts from couples experiencing repeated implantation failure. Fertil Steril: 2010; 94 3 875 887
9. Gianaroli L., Magli M. C., Ferraretti A. P., Munné S. Preimplantation diagnosis for aneuploidies in patients undergoing in vitro fertilization with a poor prognosis: identification of the categories for which it should be proposed. Fertil Steril: 1999; 72 5 837 844
10. Forman E. J., Tao X., Ferry K. M., Taylor D., Treff N. R., Scott R. T. Jr. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod: 2012; 27 4 1217 1222
11. Forman E. J., Hong K. H., Ferry K. M., et al. In vitro fertilization with single euploid blastocyst transfer: a randomized controlled trial. Fertil Steril: 2013; 100 1 100, e1
12. Staessen C., Verpoest W., Donoso P., et al. Preimplantation genetic screening does not improve delivery rate in women under the age of 36 following single-embryo transfer. Hum Reprod: 2008; 23 12 2818 2825
13. Meyer L. R., Klipstein S., Hazlett W. D., Nasta T., Mangan P., Karande V. C. A prospective randomized controlled trial of preimplantation genetic screening in the good prognosis patient. Fertil Steril: 2009; 91 5 1731 1738
14. Jansen R. PS, Bowman M. C., de Boer K. A., Leigh D. A., Lieberman D. B., McArthur S. J. What next for preimplantation genetic screening (PGS)? Experience with blastocyst biopsy and testing for aneuploidy. Hum Reprod: 2008; 23 7 1476 1478
15. Mastenbroek S., Twisk M., van der Veen F., Repping S. Preimplantation genetic screening: a systematic review and meta-analysis of RCTs. Hum Reprod Update: 2011; 17 4 454 466
16. ACOG Committee Opinion No. 430: preimplantation genetic screening for aneuploidy. Obstet Gynecol: 2009; 113 3 766 767
17. Practice Committee of Society for Assisted Reproductive Technology; Practice Committee of American Society for Reproductive Medicine Preimplantation genetic testing: a Practice Committee opinion. Fertil Steril: 2008; 90 (5, Suppl): S136 S143
18. Harper J., Coonen E., De Rycke M., et al. What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium Steering Committee. Hum Reprod: 2010; 25 4 821 823
19. Treff N. R., Su J., Tao X., Levy B., Scott R. T. Jr. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril: 2010; 94 6 2017 2021
20. Scott R. T. Jr, Ferry K., Su J., Tao X., Scott K., Treff N. R. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril: 2012; 97 4 870 875
21. Treff N. R., Tao X., Ferry K. M., Su J., Taylor D., Scott R. T. Jr. 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 4 819 824
22. Treff N. R., Scott R. T. Jr. Four-hour quantitative real-time polymerase chain reaction-based comprehensive chromosome screening and accumulating evidence of accuracy, safety, predictive value, and clinical efficacy. Fertil Steril: 2013; 99 4 1049 1053
23. Forman E. J., Hong K. H., Treff N. R., Scott R. T. Comprehensive chromosome screening and embryo selection: moving toward single euploid blastocyst transfer. Semin Reprod Med: 2012; 30 3 236 242
24. Tsuchiya K. D. Fluorescence in situ hybridization. Clin Lab Med: 2011; 31 4 525 542, vii-viii
25. Treff N. R., Levy B., Su J., Northrop L. E., Tao X., Scott R. T. Jr. SNP microarray-based 24 chromosome aneuploidy screening is significantly more consistent than FISH. Mol Hum Reprod: 2010; 16 8 583 589
26. Schmittgen T. D., Livak K. J. Analyzing real-time PCR data by the comparative C(T) method. Nat Protoc: 2008; 3 6 1101 1108
27. Capalbo A., Bono S., Spizzichino L., 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: 2013; 28 2 509 518
28. Baart E. B., Martini E., van den Berg I., et al. Preimplantation genetic screening reveals a high incidence of aneuploidy and mosaicism in embryos from young women undergoing IVF. Hum Reprod: 2006; 21 1 223 233
29. Fragouli E., Alfarawati S., Daphnis D. D., et al. Cytogenetic analysis of human blastocysts with the use of FISH, CGH and aCGH: scientific data and technical evaluation. Hum Reprod: 2011; 26 2 480 490
30. Munné S., Velilla E., Colls P., et al. Self-correction of chromosomally abnormal embryos in culture and implications for stem cell production. Fertil Steril: 2005; 84 5 1328 1334
31. Fragouli E., Lenzi M., Ross R., Katz-Jaffe M., Schoolcraft W. B., Wells D. Comprehensive molecular cytogenetic analysis of the human blastocyst stage. Hum Reprod: 2008; 23 11 2596 2608
32. Scott R. T. Jr, Upham K. M., Forman E. J., Zhao T., Treff N. R. Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: a randomized and paired clinical trial. Fertil Steril: 2013; 100 3 624 630
33. Forman E. J., Kerry K. M., Gueye N. A., et al. Trophectoderm biopsy for single-gene disorder preimplantation genetic diagnosis is significantly more reliable than day 3 blastomere biopsy. Fertil Steril: 2011; 96 3 S222