A methodological overview on molecular preimplantation genetic diagnosis and screening: A genomic future?

Systems Biology in Reproductive Medicine

Volumn 58, Issue 6, 2012, Pages 289-300

  Vendrell, Xavier ^a   Bautista Llácer, Rosa ^a  

^a Sistemas Genomicos SL   (Spain)

Author keywords

aneuploidy screening; embryo; preimplantation genetic diagnosis; reproductive genetics; single gene disorders

Indexed keywords

CELL DNA; HLA ANTIGEN; RESTRICTION ENDONUCLEASE;

ALLELE; BIOPSY; CHROMOSOME ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; DNA SEQUENCE; EMBRYO BIOPSY; EMBRYO RESEARCH; FERTILIZATION IN VITRO; GENE AMPLIFICATION; GENE MUTATION; GENETIC DISORDER; GENETIC SCREENING; HLA TYPING; HUMAN; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PREIMPLANTATION EMBRYO; PREIMPLANTATION GENETIC DIAGNOSIS; PREIMPLANTATION GENETIC SCREENING; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM;

CHROMOSOME ABERRATIONS; DNA; FEMALE; GENOME, HUMAN; HLA ANTIGENS; HUMANS; MALE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; PREIMPLANTATION DIAGNOSIS;

EID: 84869478501     PISSN: 19396368     EISSN: 19396368     Source Type: Journal    
DOI: 10.3109/19396368.2012.704126     Document Type: Review

References (69)

1. Alberola, T.M., Bautista-Llácer, R., Fernández, E., Vendrell, X. and Pérez-Alonso, M. (2009) Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington Disease using three different molecular approaches simultaneously. J Assist Reprod Genet 26: 263-271.
2. Alberola, T.M., Bautista-Llácer, R., Vendrell, X., García-Mengual, E., Pardo, M., Vila, M., (2011) Case report: birth of healthy twins after preimplantation genetic diagnosis of propionic acidemia. J Assist Reprod Genet 28: 211-216.
3. Altarescu, G., Brooks, B., Margalioth, E., Eldar Geva, T., Levy-Lahad, E. and Renbaum, P. (2007) Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease. Reprod Biomed Online 15: 83-88. (Pubitemid 47162100)
4. Altarescu, G., Eldar Geva, T., Brooks, B., Margalioth, E., Levy-Lahad, E. and Renbaum, P. (2008) PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. Prenat Diagn 28: 929-933.
5. Bautista-Llácer, R., Alberola, T.M., Vendrell, X., Fernández, E. and Pérez-Alonso, M. (2010) Case report: first successful application of preimplantation genetic diagnosis for hereditary angiooedema. Reprod Biomed Online 21: 658-662.
6. Bisignano, A., Wells, D., Harton, G. and Munné, S. (2011) PGD and aneuploidy screening for 24 chromosomes: advantages and disadvantages of competing platforms. Reprod Biomed Online 23: 677-685.
7. Brezina, P.R., Benner, A., Rechitsky, S., Kuliev, A., Pomerantseva, E., Pauling, D., (2011) Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: a novel approach in optimizing pregnancy outcome. Fertil Steril 95: 1786.e5-8.
8. Coskun, S. and Alsmadi, O. (2007) Whole genome amplification from a single cell: a new era for preimplantation genetic diagnosis. Prenat Diagn 27: 297-302. (Pubitemid 46597905)
9. Fassihi, H., Liu, L., Renwick, P.J. and McGrath, J.A. (2010) Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. Br J Dermatol 162: 1330-1336.
10. Fiorentino, F., Magli, M., Podini, D., Ferraretti, A.P., Nuccitelli, A., Vitale, N., (2003) The minisequencing method: an alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 9: 399-410. (Pubitemid 36874298)
11. Fiorentino, F., Biricik, A., Karadayi, H., Berkil, H., Karlikaya, G., Sertyel, S., (2004) Development and clinical application of a strategy for preimplantation genetic diagnosis of single gene disorders combined with HLA matching. Mol Hum Reprod 10: 445-460. (Pubitemid 38714377)
12. Fiorentino, F., Kahraman, S., Karadayi, H., Biricik, A., Sertyel, S., Karlikaya, G., (2005) Short tandem repeats haplotyping of the HLA region in preimplatation HLA matching. Eur J Hum Genet 13: 953-958. (Pubitemid 41131743)
13. Fiorentino, F., Biricik1, A., Nuccitelli, A., De Palma, R., Kahraman, S., Iacobelli, M., (2006) Strategies and clinical outcome of 250 cycles of Preimplantation Genetic Diagnosis for single gene disorders. Hum Reprod 21: 670-684. (Pubitemid 43372972)
14. Fiorentino, F., Kokkali, G., Biricik, A., Stavrou, D., Ismailoglu, B., De Palma, R., (2010) Polymerase chain reaction-based detection of chromosomal imbalances on embryos: the evolution of preimplantation genetic diagnosis for chromosomal translocations. Fertil Steril 94: 2001-2011.
15. Fiorentino, F., Spizzichino, L., Bono, S., Biricik, A., Kokkali, G., Rienzi, L., (2011) PGD for reciprocal and Robertsonian translocations using array comparative genomic hybridization. Hum Reprod 26: 1925-1935.
16. Geraedts, J., Montag, M., Magli, M.C., Repping, S., Handyside, A., Staessen, C., (2011) Polar body array CGH for prediction of the status of the corresponding oocyte. Part I: clinical results. Hum Reprod 26: 3173-3180.
17. Gigarel, N., Frydman, N., Burlet, P., Kerbrat, V., Tachdjian, G., Fanchin, R., (2008) Preimplantation genetic diagnosis for autosomal recessive polycystic kidney disease. Reprod Biomed Online 16: 152-158. (Pubitemid 351187386)
18. Goossens, V., Sermon, K., Lissens, W., Vandervorst, M., Vanderfaeillie, A., De Rijcke, M., (2000) Clinical application of preimplantation genetic diagnosis for cystic fibrosis. Prenat Diagn 20: 571-581. (Pubitemid 30468257)
19. Gutiérrez-Mateo, C., Colls, P., Sánchez-García, J., Escudero, T., Prates, R., Ketterson, K., (2011) Validation of microarray comparative genomic hybridization for comprehensive chromosome analysis of embryos. Fertil Steril 95: 953-958.
20. Handyside, A.H., Kontogianni, E.H., Hardy, K. and Winston RM. (1990) Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 344: 768-770.
21. Handyside, A.H., Robinson, M.D., Simpson, R.J., Omar, M.B., Shaw, M.A., Grudzinskas, J.G., (2004) Isothermal whole genome amplification from single and small number cells: a new era for preimplantation genetic diagnosis of inherited disease. Mol Hum Reprod 10: 767-772. (Pubitemid 39341599)
22. Handyside, A.H., Harton, G.L., Mariani, B., Thornhill, A.R., Affara, N., Shaw, M., (2010) Karyomapping: a universal method for genome wide analysis of genetic disease based on mapping crossovers between parental haplotypes. J Med Genet 47: 651-658.
23. Handyside, A.H. (2011) PGD and aneuploidy screening for 24 chromosomes by genome-wide SNP analysis: seeing the wood and the trees. Reprod Biomed Online 23: 686-691.
24. Harper, J.C., Coonen, E., De Rycke, M., Fiorentino, F., Geraedts, J., Goossens, V., (2010a) What next for preimplantation genetic screening (PGS)? A position statement from the ESHRE PGD Consortium steering committee. Hum Reprod 25: 821-823.
25. Harper, J.C., Coonen, E., De Rycke, M., Harton, G., Moutou, C., Pehlivan, T., (2010b) ESHRE PGD Consortium data collection X: cycles from January to December 2007 with pregnancy follow-up to October 2008. Hum Reprod 25: 2685-2707.
26. Harper, J.C., Sengupta, S., Vesela, K., Thornhill, A., Dequeker, E., Coonen, E., (2010c) Accreditation of the PGD laboratory. Hum Reprod 25: 1051-1065.
27. Harper, J.C. and Harton, G. (2010) The use of arrays in preimplantation genetic diagnosis and screening. Fertil Steril 94: 1173-1177.
28. Harper, J.C. and Sengupta, S.B. (2012) Preimplantation genetic diagnosis: State of the ART 2011. Hum Genet 131: 175-186.
29. Harper, J.C., Wilton, L., Traeger-Synodinos, J., Goossens, V., Moutou, C., SenGupta, S.B., (2012) The ESHRE PGD Consortium: 10 years of data collection. Hum Reprod Update Feb 16 [Epub ahead of print].
30. Harton, G., Braude, P., Lashwood, A., Schmutzler, A., Traeger-Synodinos, J., Wilton, L., (2011a). ESHRE PGD consortium best practice guidelines for organization of a PGD center for PGD/preimplantation gentic screening. Hum Reprod 26 (1): 14-24.
31. Harton, G.L., De Rycke, M., Fiorentino, F., Moutou, C., SenGupta, S., Traeger-Synodinos, J., (2011b) ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 26: 33-40.
32. Harton, G.L., Magli, M.C., Lundin, K., Montag, M., Lemmen, J. and Harper J.C. (2011c) ESHRE PGD Consortium/Embryology Special Interest Group-best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (PGD/PGS). Hum Reprod 26 (1): 41-46.
33. Harton, G.L., Harper, J.C., Coonen, E., Pehlivan, T., Vesela, K. and Wilton, L. (2011d) ESHRE PGD consortium best practice guidelines for fluorescence in situ hybridization-based PGD. Hum Reprod 26 (1): 25-32.
34. Johnson, D.S., Gemelos, G., Baner, J., Ryan, A., Cinnioglu, C., Banjevic, M., (2010) Preclinical validation of a microarray method for full molecular karyotyping of blastomeres in a 24-h protocol. Hum Reprod 25: 1066-1075.
35. Ma, J.Y., Liang, X.W., Schatten, H. and Sun Q. (2012) Active DNA demethylation in mammalian preimplantation embryos: new insights and new perspectives. Mol Hum Reprod Mar 23 [Epub ahead of print].
36. Mamas, T., Gordon, A., Brown, A., Harper, J. and Sengupta S. (2012) Detection of aneuploidy by array comparative genomic hybridization using cell lines to mimic a mosaic trophectoderm biopsy. Fertil Steril Jan 24 [Epub ahead of print].
37. Mardis, E.R. (2011) A decade's perspective on DNA sequencing technology. Nature 470: 198-203.
38. Moutou, C., Gardes, N., Nicod, J.C. and Viville, S. (2007) Strategies and outcomes of PGD of familial adenomatous polyposis. Mol Hum Reprod 13: 95-101. (Pubitemid 46152595)
39. Munnè, S., Cohen, J. and Sable, D. (2002) Preimplantation genetic diagnosis for advanced maternal age and other indications. Fertil Steril 78: 234-236. (Pubitemid 34831722)
40. Obradors, A., Fernández, E., Oliver-Bonet, M., Rius, M., de la Fuente, A., Wells, D., (2008) Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: case report. Hum Reprod 23: 1949-1956. (Pubitemid 352020020)
41. Piyamongkol, W., Bermudez, M., Harper, J. and Wells, D. (2003) Detailed investigation of factors influencing amplification efficiency and allele drop-out in single cell PCR: implications for preimplantation genetic diagnosis. Mol Hum Reprod 9: 411-420. (Pubitemid 36874299)
42. The Practice Committee of American Society for Reproductive Medicine (2004) Preimplantation Genetic Diagnosis. Fertil Steril 82: S120-122.
43. The Preimplantation Genetic Diagnosis International Society (PGDIS) (2004) Guidelines for good practice in PGD. Reprod Biomed Online 9: 430-434.
44. Preimplantation Genetic Diagnosis International Society (2008) Guidelines for good practice in PGD: programme requirements and laboratory quality assurance. Reprod Biomed Online 16: 134-147.
45. Rechitsky, S. (2006) Preimplantation HLA typing with aneuploidy testing. Reprod Biomed Online 12: 89-100. (Pubitemid 43109363)
46. Rechitsky, S., Pomerantseva, E., Pakhalchuk, T., Pauling, D., Verlinsky, O. and Kuliev, A. (2011) First systematic experience of preimplantation genetic diagnosis for de-novo mutations. Reprod Biomed Online 22: 350-361.
47. Recommendations of the European Societies of Human Genetics and Human Reproduction and Embryology (2006) The need for interaction between assisted reproduction technology and genetics. Eur J Hum Genet 14: 509-511.
48. Renwick, P. (2006) Proof of principle and first cases using preimplantation genetic haplotyping-a paradigm shift for embryo diagnosis. Reprod Biomed Online 13: 110-119. (Pubitemid 44054854)
49. Renwick, P., Trussler, J., Lashwood, A., Braude, P. and Ogilvie C.M. (2010) Preimplantation genetic haplotyping: 127 diagnostic cycles demonstrating a robust, efficient alternative to direct mutation testing on single cells. Reprod Biomed Online 20: 470-476.
50. Rubio, C., Simon, C., Vidal, F., Rodrigo, L., Pehlivan, T., Remohí, J., (2003) Chromosomal abnormalities and embryo development in recurrent miscarriage couples. Hum Reprod 18: 182-188. (Pubitemid 36138874)
51. Sermon, K., Seneca, S., de Rycke, M., Goossens, V., Van de Velde, H., De Vos, A., (2001) PGD in the lab for triplet repeat diseases-myotonic dystrophy, Huntington's disease and Fragile-X syndrome. Mol Cell Endocrinol 183: S77-85.
52. Shamash, J., Rienstein, S., Wolf-Reznik, H., Pras, E., Dekel, M., Litmanovitch, T., (2011) Preimplantation genetic haplotyping a new application for diagnosis of translocation carrier's embryos-preliminary observations of two robertsonian translocation carrier families. J Assist Reprod Genet 28: 77-83.
53. Soini, S., Ibarreta, D., Anastasiadou, V., Aymé, S., Braga, S., Cornel, M., (2006). The interface between assisted reproductive technologies and genetics: technical, social, ethical and legal issues Eur J Hum Genet 14: 588-645.
54. Spits, C. and Sermon, K. (2009) PGD for monogenic disorders: aspects of molecular biology. Prenatal Diagn 29: 50-56.
55. Tang, F., Barbacioru, C., Wang, Y., Nordman, E., Lee, C., Xu, N., (2009) mRNA-Seq whole-transcriptome analysis of a single cell. Nat Methods 6: 377-382.
56. Thornhill, A.R., deDie-Smulders, C.E., Geraedts, J.P. and ESHRE PGD Consortium (2005) Best practice guidelines for clinical preimplantation genetic diagnosis (PGD) and preimplantation genetic screening (PGS). Hum Reprod 20: 35-48.
57. Traeger-Synodinos, J. (2006) Real-time PCR for prenatal and preimplantation genetic diagnosis of monogenic diseases. Mol Aspects Med 27: 176-191.
58. Traversa, M.V., Carey, L. and Leigh D. (2010) A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 16: 329-337.
59. Treff, N.R., Su, J., Tao, X., Levy, B. and Scott, R.T. (2010) Accurate single cell 24 chromosome aneuploidy screening using whole genome amplification and single nucleotide polymorphism microarrays. Fertil Steril 94: 2017-2021.
60. Tur-Kaspa, I., Aljadeff, G., Rechitsky, S., Grotjan, H.E. and Verlinsky, Y. (2010) PGD for all cystic fibrosis carrier couples: novel strategy for preventive medicine and cost analysis. Reprod Biomed Online 21: 186-195.
61. Van de Velde, H., De Rycke, M., De Man, C., De Hauwere K., Fiorentino F., Kahraman, S., (2009) The experience of two European preimplantation genetic diagnosis centres on human leukocyte antigen typing. Hum Reprod 1: 1-9.
62. Vendrell, X., Carrero, R., Alberola, T., Bautista-Llácer, R., García-Mengual, E., Claramunt, R., (2009) Quality management system in PGD/PGS: now is the time. J Assist Reprod Genet 26: 197-204.
63. Vendrell, X., Bautista-Llácer, R., Alberola, T.M., García-Mengual, E., Pardo, M., Urries, A., (2011) Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics J Assist Reprod Genet 28: 825-832.
64. Verlinsky, Y., Cieslak, J., Ivakhnenko, V., Evsikov, S., Wolf, G., White, M., (1999) Prevention of age-related aneuploidies by polar body testing of oocytes. J Assist Reprod Genet 16: 65-69.
65. Verlinsky, Y., Rechitsky, S., Schoolcraft, W., Strom, C. and Kuliev, A. (2001) Preimplantation diagnosis for Fanconi anemia combined with HLA matching. J Am Med Assoc 285: 3130-3133. (Pubitemid 32578210)
66. Verlinsky, Y. (2006) Preimplantation genetic diagnosis for Pelizaeus-Merzbacher disease with testing for age-related aneuploidies. Reprod Biomed Online 12: 83-88. (Pubitemid 43109362)
67. Wilton, L. (2005) Preimplantation genetic diagnosis and chromosome analysis of blastomeres using comparative genomic hybridization. Hum Reprod Update 11: 33-41. (Pubitemid 40201974)
68. Wilton, L., Thornhill, A., Traeger-Synodinos, J., Sermon, K.D. and Harper, J.C. (2009) The causes of misdiagnosis and adverse outcomes in PGD. Hum Reprod 24: 1221-1228.
69. Zheng, Y.M., Wang, N., Li, L. and Jin, F. (2011) Whole genome amplification in preimplantation genetic diagnosis. J Zhejiang Univ Sci B 12: 1-11.