메뉴 건너뛰기




Volumn 111, Issue 20, 2014, Pages 7415-7420

Noninvasive prenatal diagnosis of common aneuploidies by semiconductor sequencing

(20)  Liao, Can a   Yin, Ai Hua b,c,d   Peng, Chun Fang e   Fu, Fang a   Yang, Jie Xia b,c   Li, Ru a   Chen, Yang Yi e   Luo, Dong Hong e   Zhang, Yong Ling a   Ou, Yan Mei a   Li, Jian a   Wu, Jing b,c   Mai, Ming Qin b,c   Hou, Rui f   Wu, Frances g   Luo, Hongrong g,h   Li, Dong Zhi a   Liu, Hai Liang e   Zhang, Xiao Zhuang b,c,d   Zhang, Kang g,i  


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; FEMALE; FETUS; HUMAN; KARYOTYPE 45,X; KARYOTYPE 47,XXX; KARYOTYPE 47,XXY; KARYOTYPE 47,XYY; KARYOTYPING; MAJOR CLINICAL STUDY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SCREENING; SEMICONDUCTOR; SENSITIVITY AND SPECIFICITY; SEX CHROMOSOME ABERRATION; TRISOMY 13; TRISOMY 18; TRISOMY 21;

EID: 84901020406     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1321997111     Document Type: Article
Times cited : (115)

References (33)
  • 1
    • 67149115401 scopus 로고    scopus 로고
    • Clinical practice prenatal screening for aneuploidy
    • Driscoll DA, Gross S (2009) Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 360(24):2556-2562.
    • (2009) N Engl J Med , vol.360 , Issue.24 , pp. 2556-2562
    • Driscoll, D.A.1    Gross, S.2
  • 2
    • 84868238424 scopus 로고    scopus 로고
    • Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester
    • Zhang YP, et al. (2011) [Karyotype analysis of amniotic fluid cells and comparison of chromosomal abnormality rate during second trimester]. Zhonghua Fu Chan Ke Za Zhi 46(9):644-648.
    • (2011) Zhonghua Fu Chan Ke Za Zhi , vol.46 , Issue.9 , pp. 644-648
    • Zhang, Y.P.1
  • 3
    • 0037961105 scopus 로고    scopus 로고
    • Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: Case reports and review of the literature
    • Rives N, Simon N, Milazzo JP, Barthlmy C, Mac B (2003) Meiotic segregation of sex chromosomes in mosaic and non-mosaic XYY males: Case reports and review of the literature. Int J Androl 26(4):242-249.
    • (2003) Int J Androl , vol.26 , Issue.4 , pp. 242-249
    • Rives, N.1    Simon, N.2    Milazzo, J.P.3    Barth Lmy, C.4    Mac, B.5
  • 4
    • 48749101251 scopus 로고    scopus 로고
    • Effects of sex chromosome aneuploidy on male sexual behavior
    • Park JH, et al. (2008) Effects of sex chromosome aneuploidy on male sexual behavior. Genes Brain Behav 7(6):609-617.
    • (2008) Genes Brain Behav , vol.7 , Issue.6 , pp. 609-617
    • Park, J.H.1
  • 6
    • 4544347706 scopus 로고    scopus 로고
    • Turners syndrome
    • Sybert VP, McCauley E (2004) Turners syndrome. N Engl J Med 351(12):1227-1238.
    • (2004) N Engl J Med , vol.351 , Issue.12 , pp. 1227-1238
    • Sybert, V.P.1    McCauley, E.2
  • 7
    • 79953873712 scopus 로고    scopus 로고
    • Turners syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review
    • Bouchlariotou S, et al. (2011) Turners syndrome and pregnancy: Has the 45,X/47,XXX mosaicism a different prognosis? Own clinical experience and literature review. J Matern Fetal Neonatal Med 24(5):668-672.
    • (2011) J Matern Fetal Neonatal Med , vol.24 , Issue.5 , pp. 668-672
    • Bouchlariotou, S.1
  • 8
    • 75349108961 scopus 로고    scopus 로고
    • Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review
    • Leggett V, Jacobs P, Nation K, Scerif G, Bishop DV (2010) Neurocognitive outcomes of individuals with a sex chromosome trisomy: XXX, XYY, or XXY: A systematic review. Dev Med Child Neurol 52(2):119-129.
    • (2010) Dev Med Child Neurol , vol.52 , Issue.2 , pp. 119-129
    • Leggett, V.1    Jacobs, P.2    Nation, K.3    Scerif, G.4    Bishop, D.V.5
  • 9
    • 84355166682 scopus 로고    scopus 로고
    • Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: The Mayo Clinic experience
    • Hofherr SE, Wiktor AE, Kipp BR, Dawson DB, Van Dyke DL (2011) Clinical diagnostic testing for the cytogenetic and molecular causes of male infertility: The Mayo Clinic experience. J Assist Reprod Genet 28(11):1091-1098.
    • (2011) J Assist Reprod Genet , vol.28 , Issue.11 , pp. 1091-1098
    • Hofherr, S.E.1    Wiktor, A.E.2    Kipp, B.R.3    Dawson, D.B.4    Van Dyke, D.L.5
  • 10
    • 41649092864 scopus 로고    scopus 로고
    • Cytogenetic analysis after evaluation of 750 fetal deaths: Proposal for diagnostic workup
    • Korteweg FJ, et al. (2008) Cytogenetic analysis after evaluation of 750 fetal deaths: Proposal for diagnostic workup. Obstet Gynecol 111(4):865-874.
    • (2008) Obstet Gynecol , vol.111 , Issue.4 , pp. 865-874
    • Korteweg, F.J.1
  • 11
    • 34347377653 scopus 로고    scopus 로고
    • The economic burden of Downs syndrome in China
    • Bin W, Yingyao C, Qi S (2006) The economic burden of Downs syndrome in China. Chin Health Econ 25(3):24-26.
    • (2006) Chin Health Econ , vol.25 , Issue.3 , pp. 24-26
    • Bin, W.1    Yingyao, C.2    Qi, S.3
  • 13
    • 81155160840 scopus 로고    scopus 로고
    • Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype
    • Leung TY, et al. (2011) Identification of submicroscopic chromosomal aberrations in fetuses with increased nuchal translucency and apparently normal karyotype. Ultrasound Obstet Gynecol 38(3):314-319.
    • (2011) Ultrasound Obstet Gynecol , vol.38 , Issue.3 , pp. 314-319
    • Leung, T.Y.1
  • 14
    • 34748865750 scopus 로고    scopus 로고
    • Guidelines for molecular karyotyping in constitutional genetic diagnosis
    • Vermeesch JR, et al. (2007) Guidelines for molecular karyotyping in constitutional genetic diagnosis. Eur J Hum Genet 15(11):1105-1114.
    • (2007) Eur J Hum Genet , vol.15 , Issue.11 , pp. 1105-1114
    • Vermeesch, J.R.1
  • 15
    • 38449105506 scopus 로고    scopus 로고
    • American college of obstetricians and gynecologists
    • ACOG Practice Bulletin No. 88, December 2007 Invasive prenatal testing for aneuploidy
    • American College of Obstetricians and Gynecologists (2007) ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 110(6):1459-1467.
    • (2007) Obstet Gynecol , vol.110 , Issue.6 , pp. 1459-1467
  • 16
    • 0038123017 scopus 로고    scopus 로고
    • A classification of pregnancy losses after invasive prenatal diagnostic procedures: An approach to allow comparison of units with a different case mix
    • Nanal R, Kyle P, Soothill PW (2003) A classification of pregnancy losses after invasive prenatal diagnostic procedures: An approach to allow comparison of units with a different case mix. Prenat Diagn 23(6):488-492.
    • (2003) Prenat Diagn , vol.23 , Issue.6 , pp. 488-492
    • Nanal, R.1    Kyle, P.2    Soothill, P.W.3
  • 17
    • 76449093190 scopus 로고    scopus 로고
    • Update on procedure-related risks for prenatal diagnosis techniques
    • Tabor A, Alfirevic Z (2010) Update on procedure-related risks for prenatal diagnosis techniques. Fetal Diagn Ther 27(1):1-7.
    • (2010) Fetal Diagn Ther , vol.27 , Issue.1 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 18
    • 84864408781 scopus 로고    scopus 로고
    • Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • Norton ME, et al. (2012) Non-Invasive Chromosomal Evaluation (NICE) Study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 207(2):e1-e8.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.2
    • Norton, M.E.1
  • 19
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • Nicolaides KH, Syngelaki A, Ashoor G, Birdir C, Touzet G (2012) Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 207(5):e1-e6.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.5
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3    Birdir, C.4    Touzet, G.5
  • 20
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
    • Palomaki GE, et al. (2011) DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study. Genet Med 13(11):913-920.
    • (2011) Genet Med , vol.13 , Issue.11 , pp. 913-920
    • Palomaki, G.E.1
  • 21
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, et al. (2012) Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol 119(5):890-901.
    • (2012) Obstet Gynecol , vol.119 , Issue.5 , pp. 890-901
    • Bianchi, D.W.1
  • 22
    • 84896691791 scopus 로고    scopus 로고
    • DNA sequencing versus standard prenatal aneuploidy screening
    • Bianchi DW, et al. (2014) DNA sequencing versus standard prenatal aneuploidy screening. N Engl J Med 370(9):799-808.
    • (2014) N Engl J Med , vol.370 , Issue.9 , pp. 799-808
    • Bianchi, D.W.1
  • 23
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RW, et al. (2008) Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci USA 105(51):20458-20463.
    • (2008) Proc Natl Acad Sci USA , vol.105 , Issue.51 , pp. 20458-20463
    • Chiu, R.W.1
  • 24
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood
    • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR (2008) Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 105(42):16266-16271.
    • (2008) Proc Natl Acad Sci USA , vol.105 , Issue.42 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3    Hudgins, L.4    Quake, S.R.5
  • 25
    • 84870688045 scopus 로고    scopus 로고
    • Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors
    • Dan S, et al. (2012) Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn 32(13):1225-1232.
    • (2012) Prenat Diagn , vol.32 , Issue.13 , pp. 1225-1232
    • Dan, S.1
  • 27
    • 77955255742 scopus 로고    scopus 로고
    • Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
    • Fan HC, Quake SR (2010) Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 5(5):e10439.
    • (2010) PLoS One , vol.5 , Issue.5
    • Fan, H.C.1    Quake, S.R.2
  • 28
    • 0034872431 scopus 로고    scopus 로고
    • Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma
    • Chiu RW, et al. (2001) Effects of blood-processing protocols on fetal and total DNA quantification in maternal plasma. Clin Chem 47(9):1607-1613.
    • (2001) Clin Chem , vol.47 , Issue.9 , pp. 1607-1613
    • Chiu, R.W.1
  • 29
    • 79960597679 scopus 로고    scopus 로고
    • An integrated semiconductor device enabling non-optical genome sequencing
    • Rothberg JM, et al. (2011) An integrated semiconductor device enabling non-optical genome sequencing. Nature 475(7356):348-352.
    • (2011) Nature , vol.475 , Issue.7356 , pp. 348-352
    • Rothberg, J.M.1
  • 30
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25(14):1754-1760.
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 31
    • 70349556543 scopus 로고    scopus 로고
    • Personalized copy number and segmental duplication maps using next-generation sequencing
    • Alkan C, et al. (2009) Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet 41(10):1061-1067.
    • (2009) Nat Genet , vol.41 , Issue.10 , pp. 1061-1067
    • Alkan, C.1
  • 32
    • 84870175220 scopus 로고    scopus 로고
    • Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies
    • Jiang F, et al. (2012) Noninvasive Fetal Trisomy (NIFTY) test: An advanced noninvasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics 5(1):57.
    • (2012) BMC Med Genomics , vol.5 , Issue.1 , pp. 57
    • Jiang, F.1
  • 33
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    • Chen EZ, et al. (2011) Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 6(7):e21791.
    • (2011) PLoS One , vol.6 , Issue.7
    • Chen, E.Z.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.