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Volumn 32, Issue 8, 2017, Pages 1770-1777

Genetic diseases and aneuploidies can be detected with a single blastocyst biopsy: A successful clinical approach

Author keywords

aneuploidy; blastocyst biopsy; chromosomal rearrangement; genetic disease; PGS PGD

Indexed keywords

ADULT; ANEUPLOIDY; ARTICLE; BIOPSY; BLASTOCYST; CASE STUDY; CHROMOSOME REARRANGEMENT; CRYOPRESERVATION; DIPLOIDY; EMBRYO; EMBRYO TRANSFER; FEMALE; GENE AMPLIFICATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN CELL; IN VITRO FERTILIZATION; MAJOR CLINICAL STUDY; MALE; MONOGENIC DISORDER; MOSAICISM; OBSTETRIC DELIVERY; POLYMERASE CHAIN REACTION; PREGNANCY OUTCOME; PREIMPLANTATION GENETIC DIAGNOSIS; PREIMPLANTATION GENETIC SCREENING; SPONTANEOUS ABORTION; WHOLE GENOME AMPLIFICATION; EMBRYO CULTURE; PROCEDURES; WHOLE GENOME SEQUENCING;

EID: 85028335223     PISSN: 02681161     EISSN: 14602350     Source Type: Journal    
DOI: 10.1093/humrep/dex215     Document Type: Article
Times cited : (38)

References (44)
  • 2
    • 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
  • 4
    • 84993945009 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: A national multicenter obstetric and neonatal follow-up study
    • Bay B, Ingerslev HJ, Lemmen JG, Degn B, Rasmussen IA, Kesmodel US. Preimplantation genetic diagnosis: a national multicenter obstetric and neonatal follow-up study. Fertil Steril 2016;106:1363-1369.
    • (2016) Fertil Steril , vol.106 , pp. 1363-1369
    • Bay, B.1    Ingerslev, H.J.2    Lemmen, J.G.3    Degn, B.4    Rasmussen, I.A.5    Kesmodel, U.S.6
  • 5
    • 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, Kuliev A, Pomerantseva E, Pauling D, Kearns WG. 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.e5-8.
    • (2011) Fertil Steril , vol.95 , pp. 1786e5-1786e8
    • Brezina, P.R.1    Benner, A.2    Rechitsky, S.3    Kuliev, A.4    Pomerantseva, E.5    Pauling, D.6    Kearns, W.G.7
  • 6
    • 44549086306 scopus 로고    scopus 로고
    • Ultrasound versus 'clinical touch' for catheter guidance during embryo transfer in women
    • Brown J, Buckingham K, Buckett W, Abou-Setta AM. Ultrasound versus 'clinical touch' for catheter guidance during embryo transfer in women. Cochrane Database Syst Rev 2016;17:3. CD006107.
    • (2016) Cochrane Database Syst Rev , vol.17 , pp. 3
    • Brown, J.1    Buckingham, K.2    Buckett, W.3    Abou-Setta, A.M.4
  • 7
    • 84949668069 scopus 로고    scopus 로고
    • New approaches for multifactor preimplantation genetic diagnosis of monogenic diseases and aneuploidies from a single biopsy
    • Capalbo A, Rienzi L, Ubaldi FM. New approaches for multifactor preimplantation genetic diagnosis of monogenic diseases and aneuploidies from a single biopsy. Fertil Steril 2016;105:297-298.
    • (2016) Fertil Steril , vol.105 , pp. 297-298
    • Capalbo, A.1    Rienzi, L.2    Ubaldi, F.M.3
  • 15
    • 85006613434 scopus 로고    scopus 로고
    • Preimplantation genetic screening on day 3 embryos using array comparative genomic hybridization in patients with advanced maternal age: A prospective double blinded randomized controlled trial
    • Fiorentino F, Rienzi L, Bono S, Capalbo A, Spizzichino L, Baroni E, Harton G, Biricik A, Ubaldi FM. Preimplantation genetic screening on day 3 embryos using array comparative genomic hybridization in patients with advanced maternal age: a prospective double blinded randomized controlled trial. Hum Reprod 2013;28:i49-i50.
    • (2013) Hum Reprod , vol.28 , pp. i49-i50
    • Fiorentino, F.1    Rienzi, L.2    Bono, S.3    Capalbo, A.4    Spizzichino, L.5    Baroni, E.6    Harton, G.7    Biricik, A.8    Ubaldi, F.M.9
  • 16
    • 84928973006 scopus 로고    scopus 로고
    • Application of nextgeneration sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles
    • Fiorentino F, Bono S, Biricik A, Nuccitelli A, Cotroneo E, Cottone G, Kokocinski F, Michel CE, Minasi MG, Greco E. Application of nextgeneration sequencing technology for comprehensive aneuploidy screening of blastocysts in clinical preimplantation genetic screening cycles. Hum Reprod 2014;29:2802-2813.
    • (2014) Hum Reprod , vol.29 , pp. 2802-2813
    • Fiorentino, F.1    Bono, S.2    Biricik, A.3    Nuccitelli, A.4    Cotroneo, E.5    Cottone, G.6    Kokocinski, F.7    Michel, C.E.8    Minasi, M.G.9    Greco, E.10
  • 18
  • 19
    • 84953234860 scopus 로고    scopus 로고
    • The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative genomic hybridization
    • Ghevaria H, SenGupta S, Shmitova N, Serhal P, Delhanty J. The origin and significance of additional aneuploidy events in couples undergoing preimplantation genetic diagnosis for translocations by array comparative genomic hybridization. Reprod Biomed Online 2016;32:178-189.
    • (2016) Reprod Biomed Online , vol.32 , pp. 178-189
    • Ghevaria, H.1    SenGupta, S.2    Shmitova, N.3    Serhal, P.4    Delhanty, J.5
  • 20
    • 84899529733 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis and the biopsy technique: Important considerations
    • Greco E, Fabozzi G, Ruberti A, Zavaglia D, Minasi MG. Preimplantation genetic diagnosis and the biopsy technique: important considerations. Adv Reprod Sci 2013;1:7-14.
    • (2013) Adv Reprod Sci , vol.1 , pp. 7-14
    • Greco, E.1    Fabozzi, G.2    Ruberti, A.3    Zavaglia, D.4    Minasi, M.G.5
  • 22
    • 84878357020 scopus 로고    scopus 로고
    • Single thawed euploid embryo transfer improves IVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation
    • Grifo JA, Hodes-Wertz B, Lee HL, Amperloquio E, Clarke-Williams M, Adler A. Single thawed euploid embryo transfer improves IVF pregnancy, miscarriage, and multiple gestation outcomes and has similar implantation rates as egg donation. J Assist Reprod Genet 2013;30:259-264.
    • (2013) J Assist Reprod Genet , vol.30 , pp. 259-264
    • Grifo, J.A.1    Hodes-Wertz, B.2    Lee, H.L.3    Amperloquio, E.4    Clarke-Williams, M.5    Adler, A.6
  • 24
    • 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. 19.
    • (1990) Nature , vol.344 , pp. 768e19-770e19
    • Handyside, A.H.1    Kontogianni, E.H.2    Hardy, K.3    Winston, R.M.4
  • 26
    • 77956188325 scopus 로고    scopus 로고
    • The use of arrays in PGD/PGS
    • Harper JC, Harton G. The use of arrays in PGD/PGS. Fertil Steril 2010;94: 1173-1177.
    • (2010) Fertil Steril , vol.94 , pp. 1173-1177
    • Harper, J.C.1    Harton, G.2
  • 27
    • 84888436824 scopus 로고    scopus 로고
    • Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization
    • PGD Practitioners Group
    • Harton GL, Munné S, Surrey M, Grifo J, Kaplan B, McCulloh DH, Griffin DK, Wells D, PGD Practitioners Group. Diminished effect of maternal age on implantation after preimplantation genetic diagnosis with array comparative genomic hybridization. Fertil Steril 2013;100:1695-1703.
    • (2013) Fertil Steril , vol.100 , pp. 1695-1703
    • Harton, G.L.1    Munné, S.2    Surrey, M.3    Grifo, J.4    Kaplan, B.5    McCulloh, D.H.6    Griffin, D.K.7    Wells, D.8
  • 31
    • 33845222842 scopus 로고    scopus 로고
    • Highly efficient vitrification for cryopreservation of human oocytes and embryos: The Cryotop method
    • 73-67:80
    • Kuwayama M. Highly efficient vitrification for cryopreservation of human oocytes and embryos: the Cryotop method. Theriogenology 2007;1:67: 73-67:80.
    • (2007) Theriogenology , vol.1 , pp. 67
    • Kuwayama, M.1
  • 32
    • 84992432486 scopus 로고    scopus 로고
    • Current aspects of blastocyst culture, biopsy and vitrification
    • Minasi MG, Greco E. Current aspects of blastocyst culture, biopsy and vitrification. CCE Curr Trends Clin Embryol 2014;1:27-33.
    • (2014) CCE Curr Trends Clin Embryol , vol.1 , pp. 27-33
    • Minasi, M.G.1    Greco, E.2
  • 34
    • 0036490364 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities
    • Munné S. Preimplantation genetic diagnosis of numerical and structural chromosome abnormalities. Reprod Biomed Online 2002;4:183-196.
    • (2002) Reprod Biomed Online , vol.4 , pp. 183-196
    • Munné, S.1
  • 35
    • 47649121434 scopus 로고    scopus 로고
    • Birth of a healthy boy after a double factor PGD in a couple carrying a genetic disease and at risk for aneuploidy: Case report
    • Obradors A, Fernández E, Oliver-Bonet M, Rius M, de la Fuente A, Wells D, Benet J, Navarro J. 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 2008;23:1949-1956.
    • (2008) Hum Reprod , vol.23 , pp. 1949-1956
    • Obradors, A.1    Fernández, E.2    Oliver-Bonet, M.3    Rius, M.4    De La Fuente, A.5    Wells, D.6    Benet, J.7    Navarro, J.8
  • 36
    • 61349090431 scopus 로고    scopus 로고
    • Outcome of twin babies free of von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: Monogenetic mutation analysis and comprehensive aneuploidy screening
    • Obradors A, Fernández E, Rius M, Oliver-Bonet M, Martínez-Fresno M, Benet J, Navarro J. Outcome of twin babies free of Von Hippel-Lindau disease after a double-factor preimplantation genetic diagnosis: monogenetic mutation analysis and comprehensive aneuploidy screening. Fertil Steril 2009;91:933.e1-7.
    • (2009) Fertil Steril , vol.91 , pp. 933e1-933e7
    • Obradors, A.1    Fernández, E.2    Rius, M.3    Oliver-Bonet, M.4    Martínez-Fresno, M.5    Benet, J.6    Navarro, J.7
  • 37
    • 84877063344 scopus 로고    scopus 로고
    • PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing
    • Rechitsky S, Verlinsky O, Kuliev A. PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing. Reprod Biomed Online 2013;26:420-430.
    • (2013) Reprod Biomed Online , vol.26 , pp. 420-430
    • Rechitsky, S.1    Verlinsky, O.2    Kuliev, A.3
  • 38
    • 84883457543 scopus 로고    scopus 로고
    • Cleavage-stage biopsy significantly impairs human embryonic implantation potential while blastocyst biopsy does not: A randomized and paired clinical trial
    • Scott RT Jr, 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 2013a;100:624-630.
    • (2013) Fertil Steril , vol.100 , pp. 624-630
    • Scott, R.T.1    Upham, K.M.2    Forman, E.J.3    Zhao, T.4    Treff, N.R.5
  • 39
    • 84883382649 scopus 로고    scopus 로고
    • Selecting the optimal time to perform biopsy for preimplantation genetic testing
    • Scott KL, Hong KH, Scott RT. Selecting the optimal time to perform biopsy for preimplantation genetic testing. Fertil Steril 2013b;100:608-614.
    • (2013) Fertil Steril , vol.100 , pp. 608-614
    • Scott, K.L.1    Hong, K.H.2    Scott, R.T.3
  • 41
    • 84883180140 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism microarraybased preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers
    • Tan YQ, Tan K, Zhang SP, Gong F, Cheng DH, Xiong B, Lu CF, Tang XC, Luo KL, Lin G et al. Single-nucleotide polymorphism microarraybased preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers. Hum Reprod 2013;28:2581-2592.
    • (2013) Hum Reprod , vol.28 , pp. 2581-2592
    • Tan, Y.Q.1    Tan, K.2    Zhang, S.P.3    Gong, F.4    Cheng, D.H.5    Xiong, B.6    Lu, C.F.7    Tang, X.C.8    Luo, K.L.9    Lin, G.10
  • 42
    • 77952046831 scopus 로고    scopus 로고
    • A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers
    • Traversa MV, Carey L, Leigh D. A molecular strategy for routine preimplantation genetic diagnosis in both reciprocal and Robertsonian translocation carriers. Mol Hum Reprod 2010;16:329-337.
    • (2010) Mol Hum Reprod , vol.16 , pp. 329-337
    • Traversa, M.V.1    Carey, L.2    Leigh, D.3
  • 43
    • 84952690370 scopus 로고    scopus 로고
    • Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses
    • Yan L, Huang L, Xu L, Huang J, Ma F, Zhu X, Tang Y, Liu M, Lian Y, Liu P et al. Live births after simultaneous avoidance of monogenic diseases and chromosome abnormality by next-generation sequencing with linkage analyses. Proc Natl Acad Sci U S A 2015;112:15964-15969. 29.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. 15964e29-15969e29
    • Yan, L.1    Huang, L.2    Xu, L.3    Huang, J.4    Ma, F.5    Zhu, X.6    Tang, Y.7    Liu, M.8    Lian, Y.9    Liu, P.10
  • 44
    • 84949266799 scopus 로고    scopus 로고
    • Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification
    • Zimmerman RS, Jalas C, Tao X, Fedick AM, Kim JG, Pepe RJ, Northrop LE, Scott RT Jr, Treff NR. Development and validation of concurrent preimplantation genetic diagnosis for single gene disorders and comprehensive chromosomal aneuploidy screening without whole genome amplification. Fertil Steril 2016;105:286-294.
    • (2016) Fertil Steril , vol.105 , pp. 286-294
    • Zimmerman, R.S.1    Jalas, C.2    Tao, X.3    Fedick, A.M.4    Kim, J.G.5    Pepe, R.J.6    Northrop, L.E.7    Scott, R.T.8    Treff, N.R.9


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.