Advances in preimplantation genetic diagnosis/screening

详细信息    查看全文

• 作者：LiYing Yan (1) (2) (3)
  Yuan Wei (1) (2) (3)
  Jin Huang (1) (2) (3)
  XiaoHui Zhu (1) (2) (3)
  XiaoDan Shi (1) (2) (3)
  Xi Xia (1) (2) (3)
  Jie Yan (1) (2) (3)
  CuiLing Lu (1) (2)
  Ying Lian (1) (2) (3)
  Rong Li (1) (2) (3)
  Ping Liu (1) (2) (3)
  Jie Qiao (1) (2) (3)
  
• 关键词：preimplantation genetic diagnosis ; preimplantation genetic screening ; indications ; biopsy methods ; array comparative genomic hybridization ; next ; generation sequencing
• 刊名：Science China Life Sciences
• 出版年：2014
• 出版时间：July 2014
• 年：2014
• 卷：57
• 期：7
• 页码：665-671
• 全文大小：614 KB
• 参考文献：1. Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature, 1990, 344: 768鈥?70 CrossRef
  2. Rechitsky S, Verlinsky O, Chistokhina A, Sharapova T, Ozen S, Masciangelo C, Kuliev A, Verlinsky Y. Preimplantation genetic diagnosis for cancer predisposition. Reprod Biomed Online, 2002, 5: 148鈥?55 CrossRef
  3. Xu K, Shi ZM, Veeck LL, Hughes MR, Rosenwaks Z. First unaffected pregnancy using preimplantation genetic diagnosis for sickle cell anemia. JAMA, 1999, 281: 1701鈥?706 CrossRef
  4. Kuliev A, Rechitsky S, Verlinsky O, Ivakhnenko V, Cieslak J, Evsikov S, Wolf G, Angastiniotis M, Kalakoutis G, Strom C, Verlinsky Y. Birth of healthy children after preimplantation diagnosis of thalassemias. J Assist Reprod Genet, 1999, 16: 207鈥?11 CrossRef
  5. Goossens V, Traeger-Synodinos J, Coonen E, De Rycke M, Moutou C, Pehlivan T, Derks-Smeets IA, Harton G. ESHRE PGD Consortium data collection XI: cycles from January to December 2008 with pregnancy follow-up to October 2009. Hum Reprod, 2012, 27: 1887鈥?911 CrossRef
  6. Bingol B, Tasdemir S, Gunenc Z, Abike F, Esenkaya S, Tavukcuoglu S, Berkil H. Prenatal diagnosis of Comel-Netherton syndrome with PGD, case report and review article. J Assist Reprod Genet, 2011, 28: 615鈥?20 CrossRef
  7. Altarescu G, Barenholz O, Renbaum P, Beeri R, Levy-Lahad E, Margalioth EJ, Brooks B, Varshaver I, Eldar-Geva T. Preimplantation genetic diagnosis (PGD)-prevention of the birth of children affected with endocrine diseases. J Pediatr Endocrinol Metab, 2011, 24: 543鈥?48 CrossRef
  8. Simpson JL. Preimplantation genetic diagnosis at 20 years. Prenat Diagn, 2010, 30: 682鈥?95 CrossRef
  9. Berger VK, Baker VL. Preimplantation diagnosis for single gene disorders. Semin Reprod Med, 2014, 32: 107鈥?13 CrossRef
  10. Sermon K, van Steirteghem A, Liebaers I. Preimplantation genetic diagnosis. Lancet, 2004, 363: 1633鈥?641 CrossRef
  11. Moutou C, Goossens V, Coonen E, De Rycke M, Kokkali G, Renwick P, Sengupta SB, Vesela K, Traeger-Synodinos J. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010. Hum Reprod, 2014, 29: 880鈥?03 CrossRef
  12. Jiang B, Tan AS, Chong SS. Molecular strategies for pre-implantation genetic diagnosis of single gene and chromosomal disorders. Best Pract Res Clin Obstet Gynaecol, 2012, 26: 551鈥?59 CrossRef
  13. Donnelly LS, Watson M, Moynihan C, Bancroft E, Evans DG, Eeles R, Lavery S, Ormondroyd E. Reproductive decision-making in young female carriers of a BRCA mutation. Hum Reprod, 2013, 28: 1006鈥?012 CrossRef
  14. Sagi M, Weinberg N, Eilat A, Aizenman E, Werner M, Girsh E, Siminovsky Y, Abeliovich D, Peretz T, Simon A, Laufer N. Preimplantation genetic diagnosis for BRCA1/2-a novel clinical experience. Prenat Diagn, 2009, 29: 508鈥?13 CrossRef
  15. Chen YL, Hung CC, Lin SY, Fang MY, Tsai YY, Chang LJ, Lee CN, Su YN, Chen SU, Yang YS. Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1. Taiwan J Obstet Gynecol, 2011, 50: 74鈥?8 CrossRef
  16. Drusedau M, Dreesen JC, Derks-Smeets I, Coonen E, van Golde R, van Echten-Arends J, Kastrop PM, Blok MJ, Gomez-Garcia E, Geraedts JP, Smeets HJ, de Die-Smulders CE and Paulussen AD. PGD for hereditary breast and ovarian cancer: the route to universal tests for BRCA1 and BRCA2 mutation carriers. Eur J Hum Genet, 2013, 21: 1361鈥?368 CrossRef
  17. Malcov M, Ben-Yosef D, Amit A, Yaron Y. Preimplantation genetic diagnosis (PGD) for cancer predisposition syndromes. Harefuah, 2011, 150: 496鈥?01, 553
  18. Schaefer AM, Taylor RW, Turnbull DM, Chinnery PF. The epidemiology of mitochondrial disorders-past, present and future. Biochim Biophys Acta, 2004, 1659: 115鈥?20 CrossRef
  19. Amato P, Tachibana M, Sparman M, Mitalipov S. Three-parent / in vitro fertilization: gene replacement for the prevention of inherited mitochondrial diseases. Fertil Steril, 2014, 101: 31鈥?5 CrossRef
  20. Steffann J, Frydman N, Gigarel N, Burlet P, Ray PF, Fanchin R, Feyereisen E, Kerbrat V, Tachdjian G, Bonnefont JP, Frydman R, Munnich A. Analysis of mtDNA variant segregation during early human embryonic development: a tool for successful NARP preimplantation diagnosis. J Med Genet, 2006, 43: 244鈥?47 CrossRef
  21. Treff NR, Campos J, Tao X, Levy B, Ferry KM, Scott RJ. Blastocyst preimplantation genetic diagnosis (PGD) of a mitochondrial DNA disorder. Fertil Steril, 2012, 98: 1236鈥?240 CrossRef
  22. Sallevelt SC, Dreesen JC, Drusedau M, Spierts S, Coonen E, van Tienen FH, van Golde RJ, de Coo IF, Geraedts JP, de Die-Smulders CE, Smeets HJ. Preimplantation genetic diagnosis in mitochondrial DNA disorders: challenge and success. J Med Genet, 2013, 50: 125鈥?32 CrossRef
  23. Tachibana M, Amato P, Sparman M, Woodward J, Sanchis DM, Ma H, Gutierrez NM, Tippner-Hedges R, Kang E, Lee HS, Ramsey C, Masterson K, Battaglia D, Lee D, Wu D, Jensen J, Patton P, Gokhale S, Stouffer R, Mitalipov S. Towards germline gene therapy of inherited mitochondrial diseases. Nature, 2013, 493: 627鈥?31 CrossRef
  24. Verlinsky Y, Rechitsky S, Schoolcraft W, Strom C, Kuliev A. Preimplantation diagnosis for Fanconi anemia combined with HLA matching. JAMA, 2001, 285: 3130鈥?133 CrossRef
  25. Brezina PR. Preimplantation genetic testing in the 21st century: uncharted territory. Clin Med Insights Reprod Health, 2013, 7: 17鈥?1 CrossRef
  26. Bielorai B, Hughes MR, Auerbach AD, Nagler A, Loewenthal R, Rechavi G, Toren A. Successful umbilical cord blood transplantation for Fanconi anemia using preimplantation genetic diagnosis for HLA-matched donor. Am J Hematol, 2004, 77: 397鈥?99 CrossRef
  27. Verlinsky Y, Cieslak J, Freidine M, Ivakhnenko V, Wolf G, Kovalinskaya L, White M, Lifchez A, Kaplan B, Moise J, Et A. Pregnancies following pre-conception diagnosis of common aneuploidies by fluorescent / in-situ hybridization. Hum Reprod, 1995, 10: 1923鈥?927
  28. Rubio C, Simon C, Vidal F, Rodrigo L, Pehlivan T, Remohi J, Pellicer A. Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod, 2003, 18: 182鈥?88 CrossRef
  29. Jiang B, Tan AS, Chong SS. Molecular strategies for pre-implantation genetic diagnosis of single gene and chromosomal disorders. Best Pract Res Clin Obstet Gynaecol, 2012, 26: 551鈥?59 CrossRef
  30. Schoolcraft WB, Katz-Jaffe MG. Comprehensive chromosome screening of trophectoderm with vitrification facilitates elective single-embryo transfer for infertile women with advanced maternal age. Fertil Steril, 2013, 100: 615鈥?19 CrossRef
  31. Kaser DJ, Ginsburg ES. Embryo biopsy for aneuploidy detection in the general infertility population. Semin Reprod Med, 2014, 32: 100鈥?06 CrossRef
  32. Findlay I, Ray P, Quirke P, Rutherford A, Lilford R. Allelic drop-out and preferential amplification in single cells and human blastomeres: implications for preimplantation diagnosis of sex and cystic fibrosis. Hum Reprod, 1995, 10: 1609鈥?618 CrossRef
  33. Thornhill AR, Snow K. Molecular diagnostics in preimplantation genetic diagnosis. J Mol Diagn, 2002, 4: 11鈥?9 CrossRef
  34. Renwick P, Ogilvie CM. Preimplantation genetic diagnosis for monogenic diseases: overview and emerging issues. Expert Rev Mol Diagn, 2007, 7: 33鈥?3 CrossRef
  35. Wells D, Sherlock JK. Strategies for preimplantation genetic diagnosis of single gene disorders by DNA amplification. Prenat Diagn, 1998, 18: 1389鈥?401 CrossRef
  36. Harton GL, De Rycke M, Fiorentino F, Moutou C, SenGupta S, Traeger-Synodinos J, Harper JC. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod, 2011, 26: 33鈥?0 CrossRef
  37. Collins SC. Preimplantation genetic diagnosis: technical advances and expanding applications. Curr Opin Obstet Gynecol, 2013, 25: 201鈥?06 CrossRef
  38. Rubio C, Bellver J, Rodrigo L, Bosch E, Mercader A, Vidal C, De Los SM, Giles J, Labarta E, Domingo J, Crespo J, Remohi J, Pellicer A, Simon C. 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: 1400鈥?407 CrossRef
  39. Munne S, Dailey T, Finkelstein M, Weier HU. Reduction in signal overlap results in increased FISH efficiency: implications for preimplantation genetic diagnosis. J Assist Reprod Genet, 1996, 13: 149鈥?56 CrossRef
  40. Velilla E, Escudero T, Munne S. Blastomere fixation techniques and risk of misdiagnosis for preimplantation genetic diagnosis of aneuploidy. Reprod Biomed Online, 2002, 4: 210鈥?17 CrossRef
  41. Colls P, Sandalinas M, Pagidas K, Munne S. PGD analysis for aneuploidy in a patient heterozygous for a polymorphism of chromosome 16 (16qh-). Prenat Diagn, 2004, 24: 741鈥?44 CrossRef
  42. Mir P, Rodrigo L, Mateu E, Peinado V, Milan M, Mercader A, Buendia P, Delgado A, Pellicer A, Remohi J, Rubio C. Improving FISH diagnosis for preimplantation genetic aneuploidy screening. Hum Reprod, 2010, 25: 1812鈥?817 CrossRef
  43. Wells D, Delhanty JD. Comprehensive chromosomal analysis of human preimplantation embryos using whole genome amplification and single cell comparative genomic hybridization. Mol Hum Reprod, 2000, 6: 1055鈥?062 CrossRef
  44. Handyside AH, Harton GL, Mariani B, Thornhill AR, Affara N, Shaw MA, Griffin DK. Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet, 2010, 47: 651鈥?58 CrossRef
  45. Le Caignec C, Spits C, Sermon K, De Rycke M, Thienpont B, Debrock S, Staessen C, Moreau Y, Fryns JP, Van Steirteghem A, Liebaers I, Vermeesch JR. Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res, 2006, 34: e68 CrossRef
  46. Simpson JL. Preimplantation genetic diagnosis to improve pregnancy outcomes in subfertility. Best Pract Res Clin Obstet Gynaecol, 2012, 26: 805鈥?15 CrossRef
  47. Treff NR, Fedick A, Tao X, Devkota B, Taylor D, Scott RJ. Evaluation of targeted next-generation sequencing-based preimplantation genetic diagnosis of monogenic disease. Fertil Steril, 2013, 99: 1377鈥?384 CrossRef
  48. Fiorentino F, Biricik A, Bono S, Spizzichino L, Cotroneo E, Cottone G, Kokocinski F, Michel CE. Development and validation of a next-generation sequencing-based protocol for 24-chromosome aneuploidy screening of embryos. Fertil Steril, 2014, 101: 1375鈥?382 CrossRef
  49. Dean FB, Nelson JR, Giesler TL, Lasken RS. Rapid amplification of plasmid and phage DNA using Phi 29 DNA polymerase and multiply-primed rolling circle amplification. Genome Res, 2001, 11: 1095鈥?099 CrossRef
  50. Ni X, Zhuo M, Su Z, Duan J, Gao Y, Wang Z, Zong C, Bai H, Chapman AR, Zhao J, Xu L, An T, Ma Q, Wang Y, Wu M, Sun Y, Wang S, Li Z, Yang X, Yong J, Su XD, Lu Y, Bai F, Xie XS, Wang J. Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients. Proc Natl Acad Sci USA, 2013, 110: 21083鈥?1088 CrossRef
  51. Lu S, Zong C, Fan W, Yang M, Li J, Chapman AR, Zhu P, Hu X, Xu L, Yan L, Bai F, Qiao J, Tang F, Li R, Xie XS. Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science, 2012, 338: 1627鈥?630 CrossRef
  52. Hou Y, Fan W, Yan L, Li R, Lian Y, Huang J, Li J, Xu L, Tang F, Xie XS, Qiao J. Genome analyses of single human oocytes. Cell, 2013, 155: 1492鈥?506 CrossRef
  53. Zong C, Lu S, Chapman AR, Xie XS. Genome-wide detection of single-nucleotide and copy-number variations of a single human cell. Science, 2012, 338: 1622鈥?626 CrossRef
  54. Martin J, Cervero A, Mir P, Martinez-Conejero JA, Pellicer A, Simon C. The impact of next-generation sequencing technology on preimplantation genetic diagnosis and screening. Fertil Steril, 2013, 99: 1054鈥?061 CrossRef
  55. Sulem P, Gudbjartsson DF, Stacey SN, Helgason A, Rafnar T, Magnusson KP, Manolescu A, Karason A, Palsson A, Thorleifsson G, Jakobsdottir M, Steinberg S, Palsson S, Jonasson F, Sigurgeirsson B, Thorisdottir K, Ragnarsson R, Benediktsdottir KR, Aben KK, Kiemeney LA, Olafsson JH, Gulcher J, Kong A, Thorsteinsdottir U, Stefansson K. Genetic determinants of hair, eye and skin pigmentation in Europeans. Nat Genet, 2007, 39: 1443鈥?452 CrossRef
  56. Scott KL, Hong KH, Scott RJ. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril, 2013, 100: 608鈥?14 CrossRef
  57. Mertzanidou A, Spits C, Nguyen HT, Van de Velde H, Sermon K. Evolution of aneuploidy up to day 4 of human preimplantation development. Hum Reprod, 2013, 28: 1716鈥?724 CrossRef
  58. Mertzanidou A, Wilton L, Cheng J, Spits C, Vanneste E, Moreau Y, Vermeesch JR, Sermon K. Microarray analysis reveals abnormal chromosomal complements in over 70% of 14 normally developing human embryos. Hum Reprod, 2013, 28: 256鈥?64 CrossRef
  59. Chang LJ, Huang CC, Tsai YY, Hung CC, Fang MY, Lin YC, Su YN, Chen SU, Yang YS. Blastocyst biopsy and vitrification are effective for preimplantation genetic diagnosis of monogenic diseases. Hum Reprod, 2013, 28: 1435鈥?444 CrossRef
  60. McArthur SJ, Leigh D, Marshall JT, de Boer KA, Jansen RP. Pregnancies and live births after trophectoderm biopsy and preimplantation genetic testing of human blastocysts. Fertil Steril, 2005, 84: 1628鈥?636 CrossRef
  61. Rouen A, Hyon C, Balet R, Joye N, Cassuto NG, Siffroi JP. First birth after sperm selection through discontinuous gradient centrifugation and artificial insemination from a chromosomal translocation carrier. Case Rep Genet, 2014, 2014: 906145
  62. Gutierrez-Mateo C, Sanchez-Garcia JF, Fischer J, Tormasi S, Cohen J, Munne S, Wells D. Preimplantation genetic diagnosis of single-gene disorders: experience with more than 200 cycles conducted by a reference laboratory in the United States. Fertil Steril, 2009, 92: 1544鈥?556 CrossRef
  63. Wilton L, Thornhill A, Traeger-Synodinos J, Sermon KD, Harper JC. The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod, 2009, 24: 1221鈥?228 CrossRef
  64. Mir P, Rodrigo L, Mercader A, Buendia P, Mateu E, Milan-Sanchez M, Peinado V, Pellicer A, Remohi J, Simon C, Rubio C. False positive rate of an arrayCGH platform for single-cell preimplantation genetic screening and subsequent clinical application on day-3. J Assist Reprod Genet, 2013, 30: 143鈥?49 CrossRef
  
• 作者单位：LiYing Yan (1) (2) (3)
  Yuan Wei (1) (2) (3)
  Jin Huang (1) (2) (3)
  XiaoHui Zhu (1) (2) (3)
  XiaoDan Shi (1) (2) (3)
  Xi Xia (1) (2) (3)
  Jie Yan (1) (2) (3)
  CuiLing Lu (1) (2)
  Ying Lian (1) (2) (3)
  Rong Li (1) (2) (3)
  Ping Liu (1) (2) (3)
  Jie Qiao (1) (2) (3)
  
  1. Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing, 100191, China
  2. Key Laboratory of Assisted Reproduction, Ministry of Education, Beijing, 100191, China
  3. Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproduction, Beijing, 100191, China
  
• ISSN：1869-1889

文摘

Preimplantation genetic diagnosis (PGD) gives couples who have a high risk of transmitting genetic disorders to their baby the chance to have a healthy offspring through embryo genetic analysis and selection. Preimplantation genetic screening (PGS) is an effective method to select euploid embryos that may prevent repeated implantation failure or miscarriage. However, how and to whom PGS should be provided is a controversial topic. The first successful case of PGD of a human being was reported in 1990, and there have been tremendous improvements in this technology since then. Both embryo biopsy and genetic technologies have been improved dramatically, which increase the accuracy and expand the indications of PGD/PGS.