메뉴 건너뛰기




Volumn 104, Issue 5, 2015, Pages 1286-1293

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology

Author keywords

Assisted reproductive technology; carrier; genetic screening; infertility; next generation sequencing

Indexed keywords

ALPHA THALASSEMIA; ARTICLE; CARRIER GENETIC SCREENING TEST; CHILDHOOD DISEASE; CONGENITAL ADRENAL HYPERPLASIA; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; FRAGILE X SYNDROME; GAMETE; GENE FREQUENCY; GENE MUTATION; GENETIC COUNSELING; GENETIC SCREENING; HEMOPHILIA A; HUMAN; INFERTILITY THERAPY; MAJOR CLINICAL STUDY; MALE; NEXT GENERATION SEQUENCING; OOCYTE; PHENOTYPE; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SINGLE NUCLEOTIDE POLYMORPHISM; SPERM DONOR; SPINAL MUSCULAR ATROPHY; STEROID 21 MONOOXYGENASE DEFICIENCY; X CHROMOSOME LINKED DISORDER; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; HETEROZYGOTE DETECTION; HIGH THROUGHPUT SEQUENCING; INFERTILITY; MATERNAL CARE; MUTATION; NUCLEOTIDE SEQUENCE; PREDICTIVE VALUE; PRENATAL DIAGNOSIS; PROCEDURES; REPRODUCIBILITY; RISK FACTOR; VALIDATION STUDY;

EID: 84945910426     PISSN: 00150282     EISSN: 15565653     Source Type: Journal    
DOI: 10.1016/j.fertnstert.2015.07.1166     Document Type: Article
Times cited : (65)

References (27)
  • 1
    • 84871645744 scopus 로고    scopus 로고
    • National, regional, and global trends in infertility prevalence since 1990: A systematic analysis of 277 health surveys
    • M.N. Mascarenhas, S.R. Flaxman, T. Boerma, S. Vanderpoel, and G.A. Stevens National, regional, and global trends in infertility prevalence since 1990: a systematic analysis of 277 health surveys PLoS Med 9 2012 e1001356
    • (2012) PLoS Med , vol.9 , pp. e1001356
    • Mascarenhas, M.N.1    Flaxman, S.R.2    Boerma, T.3    Vanderpoel, S.4    Stevens, G.A.5
  • 2
    • 84902667373 scopus 로고    scopus 로고
    • International Committee for Monitoring Assisted Reproductive Technologies world report: Assisted reproductive technology 2006
    • R. Mansour, O. Ishihara, G.D. Adamson, S. Dyer, J. de Mouzon, K.G. Nygren, and et al. International Committee for Monitoring Assisted Reproductive Technologies world report: assisted reproductive technology 2006 Hum Reprod 29 2014 1536 1551
    • (2014) Hum Reprod , vol.29 , pp. 1536-1551
    • Mansour, R.1    Ishihara, O.2    Adamson, G.D.3    Dyer, S.4    De Mouzon, J.5    Nygren, K.G.6
  • 3
    • 34447316145 scopus 로고    scopus 로고
    • International estimates of infertility prevalence and treatment-seeking: Potential need and demand for infertility medical care
    • J. Boivin, L. Bunting, J.A. Collins, and K.G. Nygren International estimates of infertility prevalence and treatment-seeking: potential need and demand for infertility medical care Hum Reprod 22 2007 1506 1512
    • (2007) Hum Reprod , vol.22 , pp. 1506-1512
    • Boivin, J.1    Bunting, L.2    Collins, J.A.3    Nygren, K.G.4
  • 4
    • 0021868248 scopus 로고
    • The effect of Mendelian disease on human health: A measurement
    • T. Costa, C.R. Scriver, and B. Childs The effect of Mendelian disease on human health: a measurement Am J Med Genet 21 1985 243 255
    • (1985) Am J Med Genet , vol.21 , pp. 243-255
    • Costa, T.1    Scriver, C.R.2    Childs, B.3
  • 5
    • 0034908911 scopus 로고    scopus 로고
    • Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department
    • P. Kumar, J. Radhakrishnan, M.A. Chowdhary, and P.F. Giampietro Prevalence and patterns of presentation of genetic disorders in a pediatric emergency department Mayo Clin Proc 76 2001 777 783
    • (2001) Mayo Clin Proc , vol.76 , pp. 777-783
    • Kumar, P.1    Radhakrishnan, J.2    Chowdhary, M.A.3    Giampietro, P.F.4
  • 8
    • 27644581610 scopus 로고    scopus 로고
    • Technical standards and guidelines: Molecular genetic testing for ultra-rare disorders
    • A. Maddalena, S. Bale, S. Das, W. Grody, and S. Richards Technical standards and guidelines: molecular genetic testing for ultra-rare disorders Genet Med 7 2005 571 583
    • (2005) Genet Med , vol.7 , pp. 571-583
    • Maddalena, A.1    Bale, S.2    Das, S.3    Grody, W.4    Richards, S.5
  • 9
    • 70349678533 scopus 로고    scopus 로고
    • ACOG Committee Opinion no. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent
    • American College of Obstetrics and Gyncology Committee on Genetics ACOG Committee Opinion no. 442: preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent Obstet Gynecol 114 2009 950 953
    • (2009) Obstet Gynecol , vol.114 , pp. 950-953
  • 10
    • 33745620229 scopus 로고    scopus 로고
    • ACOG Committee Opinion no. 338. Screening for fragile X syndrome
    • American College of Obstetrics and Gyncology Committee on Genetics ACOG Committee Opinion no. 338. Screening for fragile X syndrome Obstet Gynecol 107 2006 1483 1485
    • (2006) Obstet Gynecol , vol.107 , pp. 1483-1485
  • 11
    • 27944501726 scopus 로고    scopus 로고
    • ACOG Committee Opinion no. 325. December 2005. Update on carrier screening for cystic fibrosis
    • American College of Obstetrics and Gyncology Committee on Genetics ACOG Committee Opinion no. 325. December 2005. Update on carrier screening for cystic fibrosis Obstet Gynecol 106 2005 1465 1468
    • (2005) Obstet Gynecol , vol.106 , pp. 1465-1468
  • 12
    • 84898882496 scopus 로고    scopus 로고
    • ESHRE PGD Consortium data collection XII: Cycles from January to December 2009 with pregnancy follow-up to October 2010
    • V. Moutou, V. Goossens, E. Coonen, M. De Rycke, G. Kokkali, P. Renwick, and et al. ESHRE PGD Consortium data collection XII: cycles from January to December 2009 with pregnancy follow-up to October 2010 Hum Reprod 29 2014 880 903
    • (2014) Hum Reprod , vol.29 , pp. 880-903
    • Moutou, V.1    Goossens, V.2    Coonen, E.3    De Rycke, M.4    Kokkali, G.5    Renwick, P.6
  • 13
    • 80053355174 scopus 로고    scopus 로고
    • Comprehensive comparison of three commercial human whole-exome capture platforms
    • Asan, Y. Xu, H. Jiang, C. Tyler-Smith, Y. Xue, T. Jiang, and et al. Comprehensive comparison of three commercial human whole-exome capture platforms Genome Biol 12 2011 R95
    • (2011) Genome Biol , vol.12 , pp. R95
    • Asan1    Xu, Y.2    Jiang, H.3    Tyler-Smith, C.4    Xue, Y.5    Jiang, T.6
  • 14
    • 42149139456 scopus 로고    scopus 로고
    • ACMG recommendations standards for interpretation and reporting of sequence variations: Revisions 2007
    • C.S. Richards, S. Bale, D.B. Bellissimo, S. Das, W.W. Grody, M.R. Hegde, and et al. ACMG recommendations standards for interpretation and reporting of sequence variations: revisions 2007 Genet Med 10 2008 294 300
    • (2008) Genet Med , vol.10 , pp. 294-300
    • Richards, C.S.1    Bale, S.2    Bellissimo, D.B.3    Das, S.4    Grody, W.W.5    Hegde, M.R.6
  • 16
    • 0035412399 scopus 로고    scopus 로고
    • A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia
    • A.S. Tan, A.S. Tan, T.C. Quah, P.S. Low, and S.S. Chong A rapid and reliable 7-deletion multiplex polymerase chain reaction assay for alpha-thalassemia Blood 98 2001 250 251
    • (2001) Blood , vol.98 , pp. 250-251
    • Tan, A.S.1    Tan, A.S.2    Quah, T.C.3    Low, P.S.4    Chong, S.S.5
  • 17
    • 0033774960 scopus 로고    scopus 로고
    • Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia
    • S.S. Chong, C.D. Boehm, G.R. Cutting, and D.R. Higgs Simplified multiplex-PCR diagnosis of common southeast Asian deletional determinants of alpha-thalassemia Clin Chem 46 2000 1692 1695
    • (2000) Clin Chem , vol.46 , pp. 1692-1695
    • Chong, S.S.1    Boehm, C.D.2    Cutting, G.R.3    Higgs, D.R.4
  • 18
    • 0026604940 scopus 로고
    • Salt-wasting congenital adrenal hyperplasia: Detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction
    • D. Owerbach, A.L. Ballard, and M.B. Draznin Salt-wasting congenital adrenal hyperplasia: detection and characterization of mutations in the steroid 21-hydroxylase gene, CYP21, using the polymerase chain reaction J Clin Endocrinol Metab 74 1992 553 558
    • (1992) J Clin Endocrinol Metab , vol.74 , pp. 553-558
    • Owerbach, D.1    Ballard, A.L.2    Draznin, M.B.3
  • 19
    • 0036096037 scopus 로고    scopus 로고
    • Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A
    • R.D. Bagnall, N. Waseem, P.M. Green, and F. Giannelli Recurrent inversion breaking intron 1 of the factor VIII gene is a frequent cause of severe hemophilia A Blood 99 2002 168 174
    • (2002) Blood , vol.99 , pp. 168-174
    • Bagnall, R.D.1    Waseem, N.2    Green, P.M.3    Giannelli, F.4
  • 20
    • 0032529667 scopus 로고    scopus 로고
    • Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A
    • Q. Liu, G. Nozari, and S.S. Sommer Single-tube polymerase chain reaction for rapid diagnosis of the inversion hotspot of mutation in hemophilia A Blood 92 1998 1458 1459
    • (1998) Blood , vol.92 , pp. 1458-1459
    • Liu, Q.1    Nozari, G.2    Sommer, S.S.3
  • 22
    • 84869429716 scopus 로고    scopus 로고
    • Assuring the quality of next generation sequencing in clinical laboratory practice
    • A.S. Gargis, L. Kalman, M.W. Berry, D.P. Bick, D.P. Dimmock, T. Hambuch, and et al. Assuring the quality of next generation sequencing in clinical laboratory practice Nat Biotechnol 30 2012 1033 1036
    • (2012) Nat Biotechnol , vol.30 , pp. 1033-1036
    • Gargis, A.S.1    Kalman, L.2    Berry, M.W.3    Bick, D.P.4    Dimmock, D.P.5    Hambuch, T.6
  • 23
    • 84902667377 scopus 로고    scopus 로고
    • ESHRE Task Force on Ethics and Law 21: Genetic screening of gamete donors: Ethical issues
    • W. Dondorp, G. De Wert, G. Pennings, F. Shenfield, P. Devroey, B. Tarlatzis, and et al. ESHRE Task Force on Ethics and Law 21: genetic screening of gamete donors: ethical issues Hum Reprod 29 2014 1353 1359
    • (2014) Hum Reprod , vol.29 , pp. 1353-1359
    • Dondorp, W.1    De Wert, G.2    Pennings, G.3    Shenfield, F.4    Devroey, P.5    Tarlatzis, B.6
  • 24
    • 84923584486 scopus 로고    scopus 로고
    • Expanded carrier screening in reproductive medicine - Points to consider. A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine
    • J.C. Edwards, G. Feldman, J. Goldberg, A.R. Gregg, M.E. Norton, N.C. Rose, and et al. Expanded carrier screening in reproductive medicine - points to consider. A joint statement of the American College of Medical Genetics and Genomics, American College of Obstetricians and Gynecologists, National Society of Genetic Counselors, Perinatal Quality Foundation, and Society for Maternal-Fetal Medicine Obstet Gynecol 125 2015 653 662
    • (2015) Obstet Gynecol , vol.125 , pp. 653-662
    • Edwards, J.C.1    Feldman, G.2    Goldberg, J.3    Gregg, A.R.4    Norton, M.E.5    Rose, N.C.6
  • 25
    • 84875178813 scopus 로고    scopus 로고
    • An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: Results from an ethnically diverse clinical sample of 23,453 individuals
    • G.A. Lazarin, I.S. Haque, S. Nazareth, K. Lori, S. Patterson, J.L. Jacobson, and et al. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals Genet Med 15 2013 178 186
    • (2013) Genet Med , vol.15 , pp. 178-186
    • Lazarin, G.A.1    Haque, I.S.2    Nazareth, S.3    Lori, K.4    Patterson, S.5    Jacobson, J.L.6
  • 26
    • 84894063593 scopus 로고    scopus 로고
    • Validation for clinical use of, and Initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing
    • S. Hallam, H. Nelson, V. Greger, C. Perrault-Micale, J. Davie, N. Faulkner, and et al. Validation for clinical use of, and Initial clinical experience with, a novel approach to population-based carrier screening using high-throughput, next-generation DNA sequencing J Mol Diagn 16 2014 180 189
    • (2014) J Mol Diagn , vol.16 , pp. 180-189
    • Hallam, S.1    Nelson, H.2    Greger, V.3    Perrault-Micale, C.4    Davie, J.5    Faulkner, N.6
  • 27
    • 84870900036 scopus 로고    scopus 로고
    • Deleterious- and disease-allele prevalence in healthy individuals: Insights from current predictions, mutation databases, and population-scale resequencing
    • Y. Xue, Y. Chen, Q. Ayub, N. Huang, E.V. Ball, M. Mort, and et al. Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing Am J Hum Genet 91 2012 1022 1032
    • (2012) Am J Hum Genet , vol.91 , pp. 1022-1032
    • Xue, Y.1    Chen, Y.2    Ayub, Q.3    Huang, N.4    Ball, E.V.5    Mort, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.