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Volumn 25, Issue 3, 2013, Pages 201-206

Preimplantation genetic diagnosis: Technical advances and expanding applications

Author keywords

Allele drop out; Embryo biopsy; Preimplantation genetic diagnosis; Whole genome amplification

Indexed keywords

DNA;

EID: 84877760615     PISSN: 1040872X     EISSN: 1473656X     Source Type: Journal    
DOI: 10.1097/GCO.0b013e32835faafe     Document Type: Review
Times cited : (24)

References (42)
  • 1
    • 0025307919 scopus 로고
    • Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification
    • Handyside AH, Kontogianni EH, Hardy K, Winston RM. Pregnancies from biopsied human preimplantation embryos sexed by Y-specific DNA amplification. Nature 1990; 344:768-770
    • (1990) Nature , vol.344 , pp. 768-770
    • Handyside, A.H.1    Kontogianni, E.H.2    Hardy, K.3    Winston, R.M.4
  • 2
    • 77149138001 scopus 로고    scopus 로고
    • Psychological impact of preimplantation genetic diagnosis: A review of the literature
    • Karatas JC, Strong KA, Barlow-Stewart K, et al. Psychological impact of preimplantation genetic diagnosis: A review of the literature. Reprod Biomed Online 2010; 20:83-91
    • (2010) Reprod Biomed Online , vol.20 , pp. 83-91
    • Karatas, J.C.1    Strong, K.A.2    Barlow-Stewart, K.3
  • 3
    • 77949913431 scopus 로고    scopus 로고
    • A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis
    • Davis LB, Champion SJ, Fair SO, et al. A cost-benefit analysis of preimplantation genetic diagnosis for carrier couples of cystic fibrosis. Fertil Steril 2010; 93:1793-1804
    • (2010) Fertil Steril , vol.93 , pp. 1793-1804
    • Davis, L.B.1    Champion, S.J.2    Fair, S.O.3
  • 5
    • 78650690846 scopus 로고    scopus 로고
    • Eshre pgd consortium best practice guidelines for amplification-based pgd
    • Harton GL, De Rycke M, Fiorentino F, et al. ESHRE PGD consortium best practice guidelines for amplification-based PGD. Hum Reprod 2011; 26:33-40
    • (2011) Hum Reprod , vol.26 , pp. 33-40
    • Harton, G.L.1    De Rycke, M.2    Fiorentino, F.3
  • 6
    • 84864650268 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for inherited breast cancer: First clinical application and live birth in spain
    • Ramon y Cajal T, Polo A, Martinez O, et al. Preimplantation genetic diagnosis for inherited breast cancer: First clinical application and live birth in Spain. Fam Cancer 2012; 11:175-179
    • (2012) Fam Cancer , vol.11 , pp. 175-179
    • Ramony Cajal, T.1    Polo, A.2    Martinez, O.3
  • 7
    • 0141598526 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for the Kell genotype
    • Verlinsky Y, Rechitsky S, Ozen S, et al. Preimplantation genetic diagnosis for the Kell genotype. Fertil Steril 2003; 80:1047-1051
    • (2003) Fertil Steril , vol.80 , pp. 1047-1051
    • Verlinsky, Y.1    Rechitsky, S.2    Ozen, S.3
  • 8
    • 80052404761 scopus 로고    scopus 로고
    • Seven years of experience of preimplantation HLA typing: A clinical overview of 327 cycles
    • Kahraman S, Beyazyurek C, Ekmekci CG. Seven years of experience of preimplantation HLA typing: A clinical overview of 327 cycles. Reprod Biomed Online 2011; 23:363-371
    • (2011) Reprod Biomed Online , vol.23 , pp. 363-371
    • Kahraman, S.1    Beyazyurek, C.2    Ekmekci, C.G.3
  • 9
    • 40749140352 scopus 로고    scopus 로고
    • Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis
    • Goossens V, De Rycke M, De Vos A, et al. Diagnostic efficiency, embryonic development and clinical outcome after the biopsy of one or two blastomeres for preimplantation genetic diagnosis. Hum Reprod 2008; 23:481-492
    • (2008) Hum Reprod , vol.23 , pp. 481-492
    • Goossens, V.1    De Rycke, M.2    De Vos, A.3
  • 10
    • 84864961275 scopus 로고    scopus 로고
    • One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: Retrospective analysis of 569 PGD cycles at the Stockholm PGD centre
    • Haapaniemi Kouru K, Malmgren H, Nordenskjold M, et al. One-cell biopsy significantly improves the outcome of preimplantation genetic diagnosis (PGD) treatment: Retrospective analysis of 569 PGD cycles at the Stockholm PGD centre. Hum Reprod 2012; 27:2843-2849
    • (2012) Hum Reprod , vol.27 , pp. 2843-2849
    • Haapaniemi Kouru, K.1    Malmgren, H.2    Nordenskjold, M.3
  • 11
    • 70350487415 scopus 로고    scopus 로고
    • Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: A prospective cohort of single embryo transfers
    • De Vos A, Staessen C, De Rycke M, et al. Impact of cleavage-stage embryo biopsy in view of PGD on human blastocyst implantation: A prospective cohort of single embryo transfers. Hum Reprod 2009; 24:2988-2996
    • (2009) Hum Reprod , vol.24 , pp. 2988-2996
    • De Vos, A.1    Staessen, C.2    De Rycke, M.3
  • 12
    • 78650682187 scopus 로고    scopus 로고
    • Eshre pgd consortium/embryology special interest group-best practice guidelines for polar body and embryo biopsy for preimplantation genetic diagnosis/screening (pgd/pgs
    • Harton GL, Magli MC, Lundin K, et al. 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 2011; 26:41-46
    • (2011) Hum Reprod , vol.26 , pp. 41-46
    • Harton, G.L.1    Magli, M.C.2    Lundin, K.3
  • 13
    • 0025132537 scopus 로고
    • Analysis of the first polar body: Preconception genetic diagnosis
    • Verlinsky Y, Ginsberg N, Lifchez A, et al. Analysis of the first polar body: Preconception genetic diagnosis. Hum Reprod 1990; 5:826-829
    • (1990) Hum Reprod , vol.5 , pp. 826-829
    • Verlinsky, Y.1    Ginsberg, N.2    Lifchez, A.3
  • 14
    • 79955751880 scopus 로고    scopus 로고
    • Polar body based preimplantation genetic diagnosis for mendelian disorders
    • Kuliev A, Rechitsky S. Polar body based preimplantation genetic diagnosis for Mendelian disorders. Mol Hum Reprod 2011; 17:275-285
    • (2011) Mol Hum Reprod , vol.17 , pp. 275-285
    • Kuliev, A.1    Rechitsky, S.2
  • 15
    • 34447107546 scopus 로고    scopus 로고
    • Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-Thalassemia: A pilot study
    • Kokkali G, Traeger-Synodinos J, Vrettou C, et al. Blastocyst biopsy versus cleavage stage biopsy and blastocyst transfer for preimplantation genetic diagnosis of beta-Thalassemia: A pilot study. Hum Reprod 2007; 22:1443-1449
    • (2007) Hum Reprod , vol.22 , pp. 1443-1449
    • Kokkali, G.1    Traeger-Synodinos, J.2    Vrettou, C.3
  • 16
    • 79953790886 scopus 로고    scopus 로고
    • Successful application of the strategy of blastocyst biopsy, vitrification, whole genome amplification, and thawed embryo transfer for preimplantation genetic diagnosis of neurofibromatosis type 1
    • Chen YL, Hung CC, Lin SY, et al. 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; 50:74-78
    • (2011) Taiwan J Obstet Gynecol , vol.50 , pp. 74-78
    • Chen, Y.L.1    Hung, C.C.2    Lin, S.Y.3
  • 17
    • 79952991096 scopus 로고    scopus 로고
    • Vitrified-warmed blastocyst transfer cycles yield higher pregnancy and implantation rates compared with fresh blastocyst transfer cycles-Time for a new embryo transfer strategy
    • Zhu D, Zhang J, Cao S, et al. Vitrified-warmed blastocyst transfer cycles yield higher pregnancy and implantation rates compared with fresh blastocyst transfer cycles-Time for a new embryo transfer strategy? Fertil Steril 2011; 95:1691-1695
    • (2011) Fertil Steril , vol.95 , pp. 1691-1695
    • Zhu, D.1    Zhang, J.2    Cao, S.3
  • 18
    • 0026755807 scopus 로고
    • Whole genome amplification from a single cell: Implications for genetic analysis
    • Zhang L, Cui X, Schmitt K, et al. Whole genome amplification from a single cell: Implications for genetic analysis. Proc Natl Acad Sci USA 1992; 89:5847-5851
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 5847-5851
    • Zhang, L.1    Cui, X.2    Schmitt, K.3
  • 19
    • 0026736251 scopus 로고
    • Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer
    • Telenius H, Carter NP, Bebb CE, et al. Degenerate oligonucleotide-primed PCR: General amplification of target DNA by a single degenerate primer. Genomics 1992; 13:718-725
    • (1992) Genomics , vol.13 , pp. 718-725
    • Telenius, H.1    Carter, N.P.2    Bebb, C.E.3
  • 20
    • 18344396798 scopus 로고    scopus 로고
    • Comprehensive human genome amplification using multiple displacement amplification
    • Dean FB, Hosono S, Fang L, et al. Comprehensive human genome amplification using multiple displacement amplification. Proc Natl Acad Sci USA 2002; 99:5261-5266
    • (2002) Proc Natl Acad Sci USA , vol.99 , pp. 5261-5266
    • Dean, F.B.1    Hosono, S.2    Fang, L.3
  • 21
    • 33646372472 scopus 로고    scopus 로고
    • Optimization and evaluation of single-cell whole-genome multiple displacement amplification
    • Spits C, Le Caignec C, De Rycke M, et al. Optimization and evaluation of single-cell whole-genome multiple displacement amplification. Hum Mutat 2006; 27:496-503
    • (2006) Hum Mutat , vol.27 , pp. 496-503
    • Spits, C.1    Le Caignec, C.2    De Rycke, M.3
  • 22
    • 70350573031 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of single-gene disorders: Experience with more than 200 cycles conducted by a reference laboratory in the United States
    • Gutierrez-Mateo C, Sanchez-Garcia JF, Fischer J, et al. 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; 92:1544-1556
    • (2009) Fertil Steril , vol.92 , pp. 1544-1556
    • Gutierrez-Mateo, C.1    Sanchez-Garcia, J.F.2    Fischer, J.3
  • 23
    • 84877740524 scopus 로고    scopus 로고
    • Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome
    • Lee HS, Kim MJ, Lim CK, et al. Multiple displacement amplification for preimplantation genetic diagnosis of fragile X syndrome. Genet Mol Res 2011; 10:2851-2859
    • (2011) Genet Mol Res , vol.10 , pp. 2851-2859
    • Lee, H.S.1    Kim, M.J.2    Lim, C.K.3
  • 24
    • 78650511123 scopus 로고    scopus 로고
    • First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism
    • Qubbaj W, Al-Swaid A, Al-Hassan S, et al. First successful application of preimplantation genetic diagnosis and haplotyping for congenital hyperinsulinism. Reprod Biomed Online 2011; 22:72-79
    • (2011) Reprod Biomed Online , vol.22 , pp. 72-79
    • Qubbaj, W.1    Al-Swaid, A.2    Al-Hassan, S.3
  • 25
    • 80051935025 scopus 로고    scopus 로고
    • Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line
    • Altarescu G, Renbaum P, Eldar-Geva T, et al. Preventing mucopolysaccharidosis type II (Hunter syndrome): PGD and establishing a Hunter (46, XX) stem cell line. Prenat Diagn 2011; 31:853-860
    • (2011) Prenat Diagn , vol.31 , pp. 853-860
    • Altarescu, G.1    Renbaum, P.2    Eldar-Geva, T.3
  • 26
    • 70349589679 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington disease using three different molecular approaches simultaneously
    • Alberola TM, Bautista-Llacer R, Fernandez E, et al. Preimplantation genetic diagnosis of P450 oxidoreductase deficiency and Huntington disease using three different molecular approaches simultaneously. J Assist Reprod Genet 2009; 26:263-271
    • (2009) J Assist Reprod Genet , vol.26 , pp. 263-271
    • Alberola, T.M.1    Bautista-Llacer, R.2    Fernandez, E.3
  • 27
    • 77956413044 scopus 로고    scopus 로고
    • Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification
    • Lau EC, Janson MM, Roesler MR, et al. Birth of a healthy infant following preimplantation PKHD1 haplotyping for autosomal recessive polycystic kidney disease using multiple displacement amplification. J Assist Reprod Genet 2010; 27:397-407
    • (2010) J Assist Reprod Genet , vol.27 , pp. 397-407
    • Lau, E.C.1    Janson, M.M.2    Roesler, M.R.3
  • 28
    • 77957204082 scopus 로고    scopus 로고
    • Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: Application in preimplantation genetic diagnosis
    • Kakourou G, Dhanjal S, Mamas T, et al. Modification of the triplet repeat primed polymerase chain reaction method for detection of the CTG repeat expansion in myotonic dystrophy type 1: Application in preimplantation genetic diagnosis. Fertil Steril 2010; 94:1674-1679
    • (2010) Fertil Steril , vol.94 , pp. 1674-1679
    • Kakourou, G.1    Dhanjal, S.2    Mamas, T.3
  • 29
    • 0034101415 scopus 로고    scopus 로고
    • Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis
    • Dreesen JC, Jacobs LJ, Bras M, et al. Multiplex PCR of polymorphic markers flanking the CFTR gene; a general approach for preimplantation genetic diagnosis of cystic fibrosis. Mol Hum Reprod 2000; 6:391-396
    • (2000) Mol Hum Reprod , vol.6 , pp. 391-396
    • Dreesen, J.C.1    Jacobs, L.J.2    Bras, M.3
  • 30
    • 72949085329 scopus 로고    scopus 로고
    • Real-Time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations
    • Altarescu G, Eldar-Geva T, Varshower I, et al. Real-Time reverse linkage using polar body analysis for preimplantation genetic diagnosis in female carriers of de novo mutations. Hum Reprod 2009; 24:3225-3229
    • (2009) Hum Reprod , vol.24 , pp. 3225-3229
    • Altarescu, G.1    Eldar-Geva, T.2    Varshower, I.3
  • 31
    • 79953757805 scopus 로고    scopus 로고
    • First systematic experience of preimplantation genetic diagnosis for de-novo mutations
    • Rechitsky S, Pomerantseva E, Pakhalchuk T, et al. First systematic experience of preimplantation genetic diagnosis for de-novo mutations. Reprod Biomed Online 2011; 22:350-361
    • (2011) Reprod Biomed Online , vol.22 , pp. 350-361
    • Rechitsky, S.1    Pomerantseva, E.2    Pakhalchuk, T.3
  • 32
    • 0038825355 scopus 로고    scopus 로고
    • The minisequencing method: An alternative strategy for preimplantation genetic diagnosis of single gene disorders
    • Fiorentino F, Magli MC, Podini D, et al. The minisequencing method: An alternative strategy for preimplantation genetic diagnosis of single gene disorders. Mol Hum Reprod 2003; 9:399-410
    • (2003) Mol Hum Reprod , vol.9 , pp. 399-410
    • Fiorentino, F.1    Magli, M.C.2    Podini, D.3
  • 33
    • 77649180805 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of beta-Thalassemia using real-Time polymerase chain reaction with fluorescence resonance energy transfer hybridization probes
    • Hung CC, Chen SU, Lin SY, et al. Preimplantation genetic diagnosis of beta-Thalassemia using real-Time polymerase chain reaction with fluorescence resonance energy transfer hybridization probes. Anal Biochem 2010; 400: 69-77
    • (2010) Anal Biochem , vol.400 , pp. 69-77
    • Hung, C.C.1    Chen, S.U.2    Lin, S.Y.3
  • 34
    • 79952989523 scopus 로고    scopus 로고
    • Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: A novel approach in optimizing pregnancy outcome
    • Brezina PR, Benner A, Rechitsky S, et al. Single-gene testing combined with single nucleotide polymorphism microarray preimplantation genetic diagnosis for aneuploidy: A novel approach in optimizing pregnancy outcome. Fertil Steril 2011; 95:1786.e5-1786.e8
    • (2011) Fertil Steril , vol.95
    • Brezina, P.R.1    Benner, A.2    Rechitsky, S.3
  • 35
    • 84863726611 scopus 로고    scopus 로고
    • Array comparative genomic hybridization: Its role in preimplantation genetic diagnosis
    • Fiorentino F. Array comparative genomic hybridization: Its role in preimplantation genetic diagnosis. Curr Opin Obstet Gynecol 2012; 24:203-209
    • (2012) Curr Opin Obstet Gynecol , vol.24 , pp. 203-209
    • Fiorentino, F.1
  • 36
    • 79951941982 scopus 로고    scopus 로고
    • Pregnancy after rebiopsy and vitrification of blastocysts following allele dropout after day 3 biopsy
    • Wininger JD, Taylor TH, Orris JJ, et al. Pregnancy after rebiopsy and vitrification of blastocysts following allele dropout after day 3 biopsy. Fertil Steril 2011; 95:1122.e1-1122.e2
    • (2011) Fertil Steril , vol.95
    • Wininger, J.D.1    Taylor, T.H.2    Orris, J.J.3
  • 37
    • 0032413395 scopus 로고    scopus 로고
    • Preimplantation diagnosis for Huntington's disease (HD): Clinical application and analysis of the HD expansion in affected embryos
    • Sermon K, Goossens V, Seneca S, et al. Preimplantation diagnosis for Huntington's disease (HD): Clinical application and analysis of the HD expansion in affected embryos. Prenat Diagn 1998; 18:1427-1436
    • (1998) Prenat Diagn , vol.18 , pp. 1427-1436
    • Sermon, K.1    Goossens, V.2    Seneca, S.3
  • 38
    • 34347214090 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis for cancer predisposition syndromes
    • Spits C, De Rycke M, Van Ranst N, et al. Preimplantation genetic diagnosis for cancer predisposition syndromes. Prenat Diagn 2007; 27:447-456
    • (2007) Prenat Diagn , vol.27 , pp. 447-456
    • Spits, C.1    De Rycke, M.2    Van Ranst, N.3
  • 39
    • 56749116161 scopus 로고    scopus 로고
    • Pandora's box: Ethics of PGD for inherited risk of late-onset disorders
    • Noble R, Bahadur G, Iqbal M, Sanyal A. Pandora's box: Ethics of PGD for inherited risk of late-onset disorders. Reprod Biomed Online 2008; 17 (Suppl. 3):55-60
    • (2008) Reprod Biomed Online , vol.17 , Issue.SUPPL. 3 , pp. 55-60
    • Noble, R.1    Bahadur, G.2    Iqbal, M.3    Sanyal, A.4
  • 40
    • 76549106798 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation
    • Wu CC, Lin SY, Su YN, et al. Preimplantation genetic diagnosis (embryo screening) for enlarged vestibular aqueduct due to SLC26A4 mutation. Audiol Neurootol 2010; 15:311-317
    • (2010) Audiol Neurootol , vol.15 , pp. 311-317
    • Wu, C.C.1    Lin, S.Y.2    Su, Y.N.3
  • 41
    • 79957478276 scopus 로고    scopus 로고
    • First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis
    • Alfarawati S, Fragouli E, Colls P, Wells D. First births after preimplantation genetic diagnosis of structural chromosome abnormalities using comparative genomic hybridization and microarray analysis. Hum Reprod 2011; 26: 1560-1574
    • (2011) Hum Reprod , vol.26 , pp. 1560-1574
    • Alfarawati, S.1    Fragouli, E.2    Colls, P.3    Wells, D.4
  • 42
    • 79952987085 scopus 로고    scopus 로고
    • Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos
    • e1-e2
    • Treff NR, Northrop LE, Kasabwala K, et al. Single nucleotide polymorphism microarray-based concurrent screening of 24-chromosome aneuploidy and unbalanced translocations in preimplantation human embryos. Fertil Steril 2011; 95:1606-1612; e1-e2
    • (2011) Fertil Steril , vol.95 , pp. 1606-1612
    • Treff, N.R.1    Northrop, L.E.2    Kasabwala, K.3


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