SNP array, qPCR, and next-generation sequencing-based comprehensive chromosome screening

Screening the Single Euploid Embryo: Molecular Genetics in Reproductive Medicine

Volumn , Issue , 2015, Pages 193-202

  Treff, Nathan R ^a,b   Forman, Eric J ^a   Scott, Richard T ^a  

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

^b ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84955752816     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1007/978-3-319-16892-0_14     Document Type: Chapter

References (42)

1. Schoolcraft WB, Fragouli E, Stevens J, Munne S, Katz-Jaffe M, Wells D. Clinical application of comprehensive chromosomal screening at the blastocyst stage. Fertil Steril. 2010;94(5):1700-6.
2. Schoolcraft WB, Treff NR, Stevens JM, Ferry K, Katz-Jaffe M, Scott Jr RT. Live birth outcome with trophectoderm biopsy, blastocyst vitrification, and single-nucleotide polymorphism microarray-based comprehensive chromosome screening in infertile patients. Fertil Steril. 2011;96(3):638-40.
3. Munne S, Surrey ES, Grifo J, Marut E, Opsahl M, Taylor TH. Preimplantation genetic diagnosis using array CGH significantly increases ongoing pregnancy rates per transfer. Fertil Steril. 2010;94(4):S81.
4. Fishel S, Gordon A, Lynch C, Dowell K, Ndukwe G, Kelada E, et al. Live birth after polar body array comparative genomic hybridization prediction of embryo ploidy-the future of IVF? Fertil Steril. 2010;93(3):1006e7-10.
5. Hellani A, Abu-Amero K, Azouri J, El-Akoum S. Successful pregnancies after application of array-comparative genomic hybridization in PGS-aneuploidy screening. Reprod Biomed Online. 2008;17(6):841-7.
6. Forman EJ, Tao X, Ferry KM, Taylor D, Treff NR, Scott Jr RT. Single embryo transfer with comprehensive chromosome screening results in improved ongoing pregnancy rates and decreased miscarriage rates. Hum Reprod. 2012;27(4):1217-22.
7. Yin X, Tan K, Vajta G, Jiang H, Tan Y, Zhang C, et al. Massively parallel sequencing for chromosomal abnormality testing in trophectoderm cells of human blastocysts. Biol Reprod.2013;88(3):69.
8. Consortium IH. The international HapMap project. Nature. 2003;426:789-96.
9. Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, et al. A map of human genome variation from population-scale sequencing. Nature. 2010;467(7319):1061-73.
10. 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.e1.
11. Scott Jr RT, Upham KM, Forman EJ, Hong KH, Scott KL, Taylor D, et al. Blastocyst biopsy with comprehensive chromosome screening and fresh embryo transfer significantly increases in vitro fertilization implantation and delivery rates: a randomized controlled trial. Fertil Steril. 2013;100(3):697-703.
12. Yang Z, Liu J, Collins GS, Salem SA, Liu X, Lyle SS, et al. Selection of single blastocysts for fresh transfer via standard morphology assessment alone and with array CGH for good prognosis IVF patients: results from a randomized pilot study. Mol Cytogenet.2012;5(1):24.
13. Scott Jr 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.
14. Scott Jr RT, Ferry K, Su J, Tao X, Scott K, Treff NR. Comprehensive chromosome screening is highly predictive of the reproductive potential of human embryos: a prospective, blinded, nonselection study. Fertil Steril. 2012;97(4):870-5.
15. Forman EJ, Li X, Ferry KM, Scott K, Treff NR, Scott Jr RT. Oocyte vitrification does not increase the risk of embryonic aneuploidy or diminish the implantation potential of blastocysts created after intracytoplasmic sperm injection: a novel, paired randomized controlled trial using DNA fingerprinting. Fertil Steril. 2012;98(3):644-9.
16. Treff NR, Su J, Tao X, Northrop LE, Scott Jr RT. Single-cell whole-genome amplification technique impacts the accuracy of SNP microarray-based genotyping and copy number analyses. Mol Hum Reprod. 2011;17(6):335-43.
17. Treff NR, Scott Jr RT. Methods for comprehensive chromosome screening of oocytes and embryos: capabilities, limitations, and evidence of validity. J Assist Reprod Genet. 2012;29(5):381-90.
18. Treff NR, Su J, Tao X, Levy B, Scott Jr RT. Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril. 2010;94(6):2017-21.
19. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara NA, Shaw MA, et al. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet. 2010;47(10):651-8.
20. Johnson DS, Gemelos G, Baner J, Ryan A, Cinnioglu C, Banjevic M, et al. Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod. 2010;25(4):1066-75.
21. Treff NR, Su J, Tao X, Frattarelli JL, Miller KA, Scott RT. Characterization of the source of human embryonic aneuploidy using microarray-based 24 chromosome preimplantation genetic diagnosis (mPGD) and aneuploid chromosome fingerprinting. Fertil Steril. 2008;90:S37.
22. Treff NR, Scott Jr RT, Su J, Campos J, Stevens J, Schoolcraft W, et al. Polar body morphology is not predictive of its cell division origin. J Assist Reprod Genet. 2012;29(2):137-9.
23. Gueye NA, 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.
24. Chung YG, Eum JH, Lee JE, Shim SH, Sepilian V, Hong SW, et al. Human somatic cell nuclear transfer using adult cells. Cell Stem Cell. 2014;14(6):777-80.
25. Chung Y, Bishop CE, Treff NR, Walker SJ, Sandler VM, Becker S, et al. Reprogramming of human somatic cells using human and animal oocytes. Cloning Stem Cells. 2009;11(2):213-23.
26. Schoolcraft WB, Surrey E, Minjarez D, Gustofson RL, Scott Jr RT, Katz-Jaffe MG. Comprehensive chromosome screening (CCS) with vitrification results in improved clinical outcome in women >35 years: a randomized control trial. Fertil Steril. 2012;98(3):S1.
27. Tan YQ, Tan K, Zhang SP, Gong F, Cheng DH, Xiong B, et al. Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Hum Reprod. 2013;28(9):2581-92.
28. Treff NR, Forman EJ, Katz-Jaffe MG, Schoolcraft WB, Levy B, Scott Jr RT. Incidental identification of balanced translocation carrier patients through comprehensive chromosome screening of IVF-derived blastocysts. J Assist Reprod Genet. 2013;30(6):787-91.
29. van Uum CM, Stevens SJ, Dreesen JC, Drusedau M, Smeets HJ, Hollanders-Crombach B, et al. SNP array-based copy number and genotype analyses for preimplantation genetic diagnosis of human unbalanced translocations. Eur J Hum Genet. 2012;20(9):938-44.
30. Treff NR, Tao X, Schillings WJ, Bergh PA, Scott Jr RT, Levy B. Use of single nucleotide polymorphism microarrays to distinguish between balanced and normal chromosomes in embryos from a translocation carrier. Fertil Steril. 2011;96(1):e58-65.
31. Treff NR, Northrop LE, Kasabwala K, Su J, Levy B, Scott Jr RT. Single nucleotide polymorphism microarray-based concurrent screening of 24 chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril. 2010;95(5):1606-12.e1-2.
32. Treff NR, Scott Jr RT. 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):1049-53.
33. Treff NR. qPCR-based CCS. Reprod Biomed Online. 2013;26(1):S5.
34. Treff NR, Tao X, Ferry KM, Su J, Taylor D, Scott Jr 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(4):819-24.e2.
35. Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott Jr RT. Evaluation of targeted nextgeneration sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril. 2013;99:1377-84.
36. 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.
37. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, et al. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril. 2014;101(5):1375-82.e2.
38. Treff NR, Tao X, Taylor D, Hong KH, Forman EJ, Scott RT. Development and validation of a next-generation sequencing (NGS)-based 24-chromosome aneuploidy screening system. Fertil Steril. 2013;100(3):S82.
39. Rubio C. Next-generation sequencing: challenges in reproductive genetics. Fertil Steril. 2014;101(5):1252-3.
40. Northrop LE, Treff NR, Levy B, Scott Jr 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(8):590-600.
41. Mamas T, Gordon A, Brown A, Harper J, Sengupta S. Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. Fertil Steril. 2012;97(4):943-7.
42. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod. 2009;24(5):1221-8.