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Volumn 20, Issue 5, 2015, Pages 562-573

An Overview on Prenatal Screening for Chromosomal Aberrations

Author keywords

aneuploidy; chromosomes; Down syndrome; next generation sequencing; screening; trisomy

Indexed keywords

CHROMOSOMES; OBSTETRICS; SCREENING; TURNAROUND TIME;

EID: 84941918030     PISSN: 22110682     EISSN: 22110690     Source Type: Journal    
DOI: 10.1177/2211068214564595     Document Type: Review
Times cited : (19)

References (79)
  • 2
    • 23744443826 scopus 로고    scopus 로고
    • Aneuploidy: A Matter of Bad Connections
    • D.CiminiF.DegrassiAneuploidy: A Matter of Bad Connections. Trends Cell Biol. 2005, 15, 442–451.
    • (2005) Trends Cell Biol , vol.15 , pp. 442-451
    • Cimini, D.1    Degrassi, F.2
  • 3
    • 38449087657 scopus 로고    scopus 로고
    • The Origin of Human Aneuploidy: Where We Have Been, Where We Are Going
    • T.HassoldH.HallP.HuntThe Origin of Human Aneuploidy: Where We Have Been, Where We Are Going. Hum. Mol. Genet. 2007, 16, 203–208.
    • (2007) Hum. Mol. Genet , vol.16 , pp. 203-208
    • Hassold, T.1    Hall, H.2    Hunt, P.3
  • 4
    • 33744979560 scopus 로고    scopus 로고
    • Turner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile
    • J.RovetteTurner Syndrome: Genetic and Hormonal Factors Contributing to a Specific Learning Disability Profile. Learn. Disabil. Res. Pract. 2004, 19, 133–145.
    • (2004) Learn. Disabil. Res. Pract , vol.19 , pp. 133-145
    • Rovette, J.1
  • 5
    • 0032455873 scopus 로고    scopus 로고
    • Chromosome Abnormalities in Human Embryos
    • S.MunneJ.CohenChromosome Abnormalities in Human Embryos. Hum. Reprod. Update1998, 4, 842–855.
    • (1998) Hum. Reprod. Update , vol.4 , pp. 842-855
    • Munne, S.1    Cohen, J.2
  • 8
    • 84941896513 scopus 로고    scopus 로고
    • American Accreditation HealthCare Commission. Trisomy 13–Patau Syndrome. http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002625/
    • Trisomy 13–Patau Syndrome
  • 9
    • 69449097956 scopus 로고    scopus 로고
    • Parental-Age Effects in Down Syndrome (Commentary on L.S. Penrose J. Genet)
    • S.GirirajanParental-Age Effects in Down Syndrome (Commentary on L.S. Penrose J. Genet). J. Genet. 2009, 88, 1–7.
    • (2009) J. Genet , vol.88 , pp. 1-7
    • Girirajan, S.1
  • 10
    • 0026645888 scopus 로고
    • Prenatal Screening for Down’s Syndrome with Use of Maternal Serum Markers
    • J.HaddowG.PalomakiG.Knight. Prenatal Screening for Down’s Syndrome with Use of Maternal Serum Markers. N. Engl. J. Med. 1992, 327, 588–593.
    • (1992) N. Engl. J. Med , vol.327 , pp. 588-593
    • Haddow, J.1    Palomaki, G.2    Knight, G.3
  • 11
    • 84941908473 scopus 로고    scopus 로고
    • American Accreditation HealthCare Commission. Karyo-typing. http://www.nlm.nih.gov/medlineplus/ency/article/003935.htm
    • Karyo-typing
  • 12
    • 77149140129 scopus 로고    scopus 로고
    • Prenatal Cytogenetic Diagnosis Study of 2782 Cases of High-Risk Pregnant Women
    • L.ZhangX.H.ZhangM.Y.Liang. Prenatal Cytogenetic Diagnosis Study of 2782 Cases of High-Risk Pregnant Women. Chin. Med. J. 2010, 123, 423–430.
    • (2010) Chin. Med. J , vol.123 , pp. 423-430
    • Zhang, L.1    Zhang, X.H.2    Liang, M.Y.3
  • 13
    • 76449093190 scopus 로고    scopus 로고
    • Update on Procedure-Related Risks for Prenatal Diagnosis Techniques
    • A.TaborZ.AlfirevicUpdate on Procedure-Related Risks for Prenatal Diagnosis Techniques. Fetal. Diagn. Ther. 2010, 27, 1–7.
    • (2010) Fetal. Diagn. Ther , vol.27 , pp. 1-7
    • Tabor, A.1    Alfirevic, Z.2
  • 14
    • 0032562014 scopus 로고    scopus 로고
    • CEMAT Grp Randomized Trial to Assess Safety and Fetal Outcome of Early and Mid-Trimester Amniocentesis
    • R.WilsonJ.JohnsonJ.Dansereau. CEMAT Grp Randomized Trial to Assess Safety and Fetal Outcome of Early and Mid-Trimester Amniocentesis. Lancet. 1998, 351, 242–247.
    • (1998) Lancet , vol.351 , pp. 242-247
    • Wilson, R.1    Johnson, J.2    Dansereau, J.3
  • 15
    • 0026687711 scopus 로고
    • A Randomized Comparison of Trans-Cervical and Trans-Abdominal Chorionic-Villus Sampling
    • L.JacksonJ.ZacharyS.Fowler. A Randomized Comparison of Trans-Cervical and Trans-Abdominal Chorionic-Villus Sampling. N. Engl. J. Med. 1992, 327, 594–598.
    • (1992) N. Engl. J. Med , vol.327 , pp. 594-598
    • Jackson, L.1    Zachary, J.2    Fowler, S.3
  • 16
    • 0020621218 scopus 로고
    • Efficient Direct Chromosome Analyses and Enzyme Determinations from Chorionic Villi Samples in the 1st Trimester of Pregnancy
    • G.SimoniB.BrambatiC.Danesino. Efficient Direct Chromosome Analyses and Enzyme Determinations from Chorionic Villi Samples in the 1st Trimester of Pregnancy. Hum. Genet. 1983, 63, 349–357.
    • (1983) Hum. Genet , vol.63 , pp. 349-357
    • Simoni, G.1    Brambati, B.2    Danesino, C.3
  • 17
    • 60249093298 scopus 로고    scopus 로고
    • Fetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis
    • C.L.AndersonC.E.L.BrownFetal Chromosomal Abnormalities: Antenatal Screening and Diagnosis. Am. Fam. Physician2009, 79, 117–123.
    • (2009) Am. Fam. Physician , vol.79 , pp. 117-123
    • Anderson, C.L.1    Brown, C.E.L.2
  • 19
    • 73849092216 scopus 로고    scopus 로고
    • Professional Practice Guidelines C Screening for Fetal Aneuploidy and Neural Tube Defects
    • D.A.DriscollS.J.Gross; Professional Practice Guidelines C Screening for Fetal Aneuploidy and Neural Tube Defects. Genet. Med. 2009, 11, 818–821.
    • (2009) Genet. Med , vol.11 , pp. 818-821
    • Driscoll, D.A.1    Gross, S.J.2
  • 20
    • 84868112966 scopus 로고    scopus 로고
    • Integrated and First Trimester Prenatal Screening in California: Program Implementation and Patient Choice for Follow-up Services
    • R.CurrierN.WuK.Van Meter. Integrated and First Trimester Prenatal Screening in California: Program Implementation and Patient Choice for Follow-up Services. Prenat. Diagn. 2012, 32, 1077–1083.
    • (2012) Prenat. Diagn , vol.32 , pp. 1077-1083
    • Currier, R.1    Wu, N.2    Van Meter, K.3
  • 21
    • 84873056824 scopus 로고    scopus 로고
    • NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy
    • K.L.WilsonJ.L.CzerwinskiJ.M.Hoskovec. NSGC Practice Guideline: Prenatal Screening and Diagnostic Testing Options for Chromosome Aneuploidy. J. Genet. Counsel. 2013, 22, 4–15.
    • (2013) J. Genet. Counsel , vol.22 , pp. 4-15
    • Wilson, K.L.1    Czerwinski, J.L.2    Hoskovec, J.M.3
  • 22
    • 84867413876 scopus 로고    scopus 로고
    • Prenatal Screening for Trisomy 21: Recent Advances and Guidelines
    • J.CanickPrenatal Screening for Trisomy 21: Recent Advances and Guidelines. Clin. Chem. Lab. Med. 2012, 50, 1003–1008.
    • (2012) Clin. Chem. Lab. Med , vol.50 , pp. 1003-1008
    • Canick, J.1
  • 23
    • 59749090676 scopus 로고    scopus 로고
    • Society of Obstetricians and Gynaecologists of Canada Genetics Committee. Obstetrical Complications Associated with Abnormal Maternal Serum Markers Analytes
    • A.GagnonR.D.WilsonF.Audibert.; Society of Obstetricians and Gynaecologists of Canada Genetics Committee. Obstetrical Complications Associated with Abnormal Maternal Serum Markers Analytes. J. Obstet. Gynaecol. Can. 2008, 30, 918–949.
    • (2008) J. Obstet. Gynaecol. Can , vol.30 , pp. 918-949
    • Gagnon, A.1    Wilson, R.D.2    Audibert, F.3
  • 25
    • 0021417086 scopus 로고
    • Measurement of Choriogonadotropin by Chemiluminescence Immunoassay and Immunochemiluminometric Assay: 1. Use of Isoluminol Derivatives
    • G.BarnardJ.KimJ.Brockel. Measurement of Choriogonadotropin by Chemiluminescence Immunoassay and Immunochemiluminometric Assay: 1. Use of Isoluminol Derivatives. Clin Chem. 1984, 30, 538–541.
    • (1984) Clin Chem , vol.30 , pp. 538-541
    • Barnard, G.1    Kim, J.2    Brockel, J.3
  • 26
    • 1842556080 scopus 로고    scopus 로고
    • Comparison of Inhibin A Immunoassays: Recommendation for Adoption of Standardized Reporting
    • A.DigheF.HayesJ.Khosravi. Comparison of Inhibin A Immunoassays: Recommendation for Adoption of Standardized Reporting. Clin. Chem. 2004, 50, 767–769.
    • (2004) Clin. Chem , vol.50 , pp. 767-769
    • Dighe, A.1    Hayes, F.2    Khosravi, J.3
  • 27
    • 38149059050 scopus 로고    scopus 로고
    • First Trimester Diagnosis and Screening for Fetal Aneuploidy
    • D.A.DriscollS.J.GrossFirst Trimester Diagnosis and Screening for Fetal Aneuploidy. Genet. Med. 2008, 10, 73–75.
    • (2008) Genet. Med , vol.10 , pp. 73-75
    • Driscoll, D.A.1    Gross, S.J.2
  • 28
    • 84861022136 scopus 로고    scopus 로고
    • Analysis of Quality of Nuchal Translucency Measurements: Its Role in Prenatal Diagnosis
    • C.C.GabrielM.EchevarriaI.Rodriguez. Analysis of Quality of Nuchal Translucency Measurements: Its Role in Prenatal Diagnosis. Sci. World J. 2012, 2012, 1–8.
    • (2012) Sci. World J , vol.2012 , pp. 1-8
    • Gabriel, C.C.1    Echevarria, M.2    Rodriguez, I.3
  • 29
    • 0033811456 scopus 로고    scopus 로고
    • Pregnancy Outcome and Infant Follow-up of Fetuses with Abnormally Increased First Trimester Nuchal Translucency
    • R.MaymonE.JauniauxO.Cohen. Pregnancy Outcome and Infant Follow-up of Fetuses with Abnormally Increased First Trimester Nuchal Translucency. Hum. Reprod. 2000, 15, 2023–2027.
    • (2000) Hum. Reprod , vol.15 , pp. 2023-2027
    • Maymon, R.1    Jauniaux, E.2    Cohen, O.3
  • 30
    • 0037957045 scopus 로고    scopus 로고
    • Pathophysiology of Increased Nuchal Translucency: A Review of the Literature
    • M.C.HaakJ.M.Van VugtPathophysiology of Increased Nuchal Translucency: A Review of the Literature. Hum. Reprod. Update2003, 9, 175–184.
    • (2003) Hum. Reprod. Update , vol.9 , pp. 175-184
    • Haak, M.C.1    Van Vugt, J.M.2
  • 31
    • 84867585479 scopus 로고    scopus 로고
    • Increased Nuchal Translucency in Normal Karyotype Fetuses
    • R.De DomenicoM.FaraciE.Hyseni. Increased Nuchal Translucency in Normal Karyotype Fetuses. J. Prenat. Med. 2011, 1, 23–26.
    • (2011) J. Prenat. Med , vol.1 , pp. 23-26
    • De Domenico, R.1    Faraci, M.2    Hyseni, E.3
  • 32
    • 0036796075 scopus 로고    scopus 로고
    • Increased Nuchal Translucency in Fetuses with a Normal Karyotype
    • J.A.HyettIncreased Nuchal Translucency in Fetuses with a Normal Karyotype. Prenat. Diagn. 2002, 22, 864–868.
    • (2002) Prenat. Diagn , vol.22 , pp. 864-868
    • Hyett, J.A.1
  • 33
    • 77950670935 scopus 로고    scopus 로고
    • Distribution of Nuchal Translucency in Antenatal Screening for Down’s Syndrome
    • J.P.BestwickW.J.HuttlyN.J.WaldDistribution of Nuchal Translucency in Antenatal Screening for Down’s Syndrome. J. Med. Screen. 2010, 17, 8–12.
    • (2010) J. Med. Screen , vol.17 , pp. 8-12
    • Bestwick, J.P.1    Huttly, W.J.2    Wald, N.J.3
  • 34
    • 84879487413 scopus 로고    scopus 로고
    • Non-Invasive Prenatal Testing for Aneuploidy: Current Status and Future Prospects
    • P.BennH.CuckleE.PergamentNon-Invasive Prenatal Testing for Aneuploidy: Current Status and Future Prospects. Ultrasound Obstet. Gynecol. 2013, 42, 15–33.
    • (2013) Ultrasound Obstet. Gynecol , vol.42 , pp. 15-33
    • Benn, P.1    Cuckle, H.2    Pergament, E.3
  • 35
    • 0029970686 scopus 로고    scopus 로고
    • The Role of Fetal Karyotyping from Unconventional Sources
    • T.TeohG.RyanJ.Johnson. The Role of Fetal Karyotyping from Unconventional Sources. Obstet. Gynecol. 1996, 175, 873–877.
    • (1996) Obstet. Gynecol , vol.175 , pp. 873-877
    • Teoh, T.1    Ryan, G.2    Johnson, J.3
  • 38
    • 79955505079 scopus 로고    scopus 로고
    • Fluorescence In Situ Hybridization in Uncultured Amniocytes for Detection of Aneuploidy in 4210 Prenatal Cases
    • C.W.JiaS.Y.WangY.M.Ma. Fluorescence In Situ Hybridization in Uncultured Amniocytes for Detection of Aneuploidy in 4210 Prenatal Cases. Chin. Med. J. 2011, 124, 1164–1168.
    • (2011) Chin. Med. J , vol.124 , pp. 1164-1168
    • Jia, C.W.1    Wang, S.Y.2    Ma, Y.M.3
  • 39
    • 84859147529 scopus 로고    scopus 로고
    • Same-Day Prenatal Diagnosis of Common Chromosomal Aneuploidies Using Microfluidics-Fluorescence In Situ Hybridization
    • S.S.HoC.ChuaL.Gole. Same-Day Prenatal Diagnosis of Common Chromosomal Aneuploidies Using Microfluidics-Fluorescence In Situ Hybridization. Prenat. Diagn. 2012, 32, 321–328.
    • (2012) Prenat. Diagn , vol.32 , pp. 321-328
    • Ho, S.S.1    Chua, C.2    Gole, L.3
  • 40
    • 0025729359 scopus 로고
    • Fluorescence In-Situ Hybridization-Applications in Cytogenetics and Gene-Mapping
    • B.TraskFluorescence In-Situ Hybridization-Applications in Cytogenetics and Gene-Mapping. Trends Genet. 1991, 7, 149–154.
    • (1991) Trends Genet , vol.7 , pp. 149-154
    • Trask, B.1
  • 41
    • 82355171973 scopus 로고    scopus 로고
    • Fluorescence In Situ Hybridization
    • K.D.TsuchiyaFluorescence In Situ Hybridization. Clin. Lab. Med. 2011, 31, 525–542.
    • (2011) Clin. Lab. Med , vol.31 , pp. 525-542
    • Tsuchiya, K.D.1
  • 42
    • 0141613852 scopus 로고    scopus 로고
    • Rapid and Simple Prenatal Diagnosis of Common Chromosome Disorders: Advantages and Disadvantages of the Molecular Methods FISH and QF-PCR
    • M.HultenS.DhanjalB.PertlRapid and Simple Prenatal Diagnosis of Common Chromosome Disorders: Advantages and Disadvantages of the Molecular Methods FISH and QF-PCR. Reproduction2003, 126, 279–297.
    • (2003) Reproduction , vol.126 , pp. 279-297
    • Hulten, M.1    Dhanjal, S.2    Pertl, B.3
  • 44
    • 20244368655 scopus 로고    scopus 로고
    • Automatic Scanning of Interphase FISH for Prenatal Diagnosis in Uncultured Amniocytes
    • D.LevM.DanielyA.Zudik. Automatic Scanning of Interphase FISH for Prenatal Diagnosis in Uncultured Amniocytes. Genet. Test. 2005, 9, 41–47.
    • (2005) Genet. Test , vol.9 , pp. 41-47
    • Lev, D.1    Daniely, M.2    Zudik, A.3
  • 45
    • 35348968954 scopus 로고    scopus 로고
    • Fully Automated FISH Examination of Amniotic Fluid Cells
    • J.WautersE.Van AsscheA.Antsaklis. Fully Automated FISH Examination of Amniotic Fluid Cells. Prenat. Diagn. 2007, 27, 951–955.
    • (2007) Prenat. Diagn , vol.27 , pp. 951-955
    • Wauters, J.1    Van Assche, E.2    Antsaklis, A.3
  • 46
    • 57649228924 scopus 로고    scopus 로고
    • Rapid Aneuploidy Detection with Multiplex Ligation-Dependent Probe Amplification: A Prospective Study of 4000 Amniotic Fluid Samples
    • D.Van OpstalM.BoterD.DeJong. Rapid Aneuploidy Detection with Multiplex Ligation-Dependent Probe Amplification: A Prospective Study of 4000 Amniotic Fluid Samples. Eur. J. Hum. Genet. 2009, 17, 112–121.
    • (2009) Eur. J. Hum. Genet , vol.17 , pp. 112-121
    • Van Opstal, D.1    Boter, M.2    DeJong, D.3
  • 47
    • 84859113049 scopus 로고    scopus 로고
    • QF-PCR: Application, Overview and Review of the Literature
    • K.MannC.M.OgilvieQF-PCR: Application, Overview and Review of the Literature. Prenat. Diagn. 2012, 32, 309–314.
    • (2012) Prenat. Diagn , vol.32 , pp. 309-314
    • Mann, K.1    Ogilvie, C.M.2
  • 49
    • 33751347059 scopus 로고    scopus 로고
    • Validation of QF-PCR for Prenatal Aneuploidy Screening in the United States
    • L.BrownM.AbiganiaD.Warburton. Validation of QF-PCR for Prenatal Aneuploidy Screening in the United States. Prenat. Diagn. 2006, 26, 1068–1074.
    • (2006) Prenat. Diagn , vol.26 , pp. 1068-1074
    • Brown, L.1    Abigania, M.2    Warburton, D.3
  • 50
    • 78049401881 scopus 로고    scopus 로고
    • Assessment of QF-PCR as the First Approach in Prenatal Diagnosis
    • C.BadenasL.Rodríguez-RevengaC.Morales. Assessment of QF-PCR as the First Approach in Prenatal Diagnosis. J. Mol. Diagn. 2010, 12, 828–834.
    • (2010) J. Mol. Diagn , vol.12 , pp. 828-834
    • Badenas, C.1    Rodríguez-Revenga, L.2    Morales, C.3
  • 51
    • 50649095688 scopus 로고    scopus 로고
    • Rapid Prenatal Diagnosis of Common Chromosome Aneuploidies by QF-PCR: Evaluation of Two In Vitro Diagnostic Test Kits (Chromoquant and Aneufast)
    • S.TurrinaG.FilippiniD.De LeoRapid Prenatal Diagnosis of Common Chromosome Aneuploidies by QF-PCR: Evaluation of Two In Vitro Diagnostic Test Kits (Chromoquant and Aneufast). Forensic Sci. Int. Genet. Suppl. Ser. 2008, 1, 582–583.
    • (2008) Forensic Sci. Int. Genet. Suppl. Ser , vol.1 , pp. 582-583
    • Turrina, S.1    Filippini, G.2    De Leo, D.3
  • 52
    • 84941890730 scopus 로고    scopus 로고
    • Anonymous QF-PCR Rapid Diagnosis of Trisomy 21, 18, 13 and Sex Chromosomes Aneuploidies. http://www.aneufast.com/QF-PCR.html
  • 53
    • 84941911156 scopus 로고    scopus 로고
    • The Order of Nucleotides in a Gene Is Revealed by DNA Sequencing
    • H.ChialC.DrovdlicM.KoopmanThe Order of Nucleotides in a Gene Is Revealed by DNA Sequencing. Essentials Genet. 2009, 4, 2.
    • (2009) Essentials Genet , vol.4 , pp. 2
    • Chial, H.1    Drovdlic, C.2    Koopman, M.3
  • 54
    • 0017681196 scopus 로고
    • DNA Sequencing with Chain Terminating Inhibitors
    • F.SangerA.R.CoulsonDNA Sequencing with Chain Terminating Inhibitors. Proc. Nat. Acad. Sci. U. S. A. 1977, 74, 5463–5467.
    • (1977) Proc. Nat. Acad. Sci. U. S. A , vol.74 , pp. 5463-5467
    • Sanger, F.1    Coulson, A.R.2
  • 55
    • 0023047540 scopus 로고
    • Fluorescence Detection in Automated DNA sequence analysis
    • L.M.SmithJ.Z.SandersR.J.Kaiser. Fluorescence Detection in Automated DNA sequence analysis. Nature1986, 321, 674–679.
    • (1986) Nature , vol.321 , pp. 674-679
    • Smith, L.M.1    Sanders, J.Z.2    Kaiser, R.J.3
  • 56
    • 0023440258 scopus 로고
    • A System for Rapid DNA Sequencing with Fluorescent Chain-Terminating Dideoxynucleotides
    • J.M.ProberG.L.TrainorF.W.Hobbs. A System for Rapid DNA Sequencing with Fluorescent Chain-Terminating Dideoxynucleotides. Science1987, 238, 336–341.
    • (1987) Science , vol.238 , pp. 336-341
    • Prober, J.M.1    Trainor, G.L.2    Hobbs, F.W.3
  • 57
    • 2042437650 scopus 로고    scopus 로고
    • Initial Sequencing and Analysis of the Human Genome
    • E.S.LanderL.M.LintonB.Birren. Initial Sequencing and Analysis of the Human Genome. Nature2001, 409, 860–921.
    • (2001) Nature , vol.409 , pp. 860-921
    • Lander, E.S.1    Linton, L.M.2    Birren, B.3
  • 58
    • 0035895505 scopus 로고    scopus 로고
    • The Sequence of the Human Genome
    • J.C.VenterM.D.AdamsE.W.Myers. The Sequence of the Human Genome. Science2001, 291, 1304–1351.
    • (2001) Science , vol.291 , pp. 1304-1351
    • Venter, J.C.1    Adams, M.D.2    Myers, E.W.3
  • 59
    • 84861553409 scopus 로고    scopus 로고
    • Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA
    • G.J.LiaoK.C.ChanP.Jiang. Noninvasive Prenatal Diagnosis of Fetal Trisomy 21 by Allelic Ratio Analysis Using Targeted Massively Parallel Sequencing of Maternal Plasma DNA. PLoS One2012, 7, e38154.
    • (2012) PLoS One , vol.7 , pp. e38154
    • Liao, G.J.1    Chan, K.C.2    Jiang, P.3
  • 60
    • 77955232951 scopus 로고    scopus 로고
    • Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing
    • H.C.FanY.J.BlumenfeldU.Chitkara. Analysis of the Size Distributions of Fetal and Maternal Cell-Free DNA by Paired-End Sequencing. Clin. Chem. 2010, 56, 1279–1286.
    • (2010) Clin. Chem , vol.56 , pp. 1279-1286
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 61
    • 78751683468 scopus 로고    scopus 로고
    • Non-Invasive Prenatal Assessment of Trisomy 21 by Multiplexed Maternal Plasma DNA Sequencing: Large Scale Validity Study
    • R.W.ChiuR.AkolekarY.W.Zheng. Non-Invasive Prenatal Assessment of Trisomy 21 by Multiplexed Maternal Plasma DNA Sequencing: Large Scale Validity Study. BMJ2011, 342, c7401.
    • (2011) BMJ , vol.342 , pp. c7401
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3
  • 62
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing
    • E.Z.ChenR.W.ChiuH.Sun. Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing. PLoS One2011, 6, e21791.
    • (2011) PLoS One , vol.6 , pp. e21791
    • Chen, E.Z.1    Chiu, R.W.2    Sun, H.3
  • 63
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidy by Massively Parallel Genomic Sequencing of DNA in Maternal Plasma
    • R.W.ChiuK.C.ChanY.Gao. Noninvasive Prenatal Diagnosis of Fetal Chromosomal Aneuploidy by Massively Parallel Genomic Sequencing of DNA in Maternal Plasma. Proc. Natl. Acad. Sci. U. S. A. 2008, 105, 20458–20463.
    • (2008) Proc. Natl. Acad. Sci. U. S. A , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 64
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive Detection of Fetal Trisomy 21 by Sequencing of DNA in Maternal Blood: A Study in a Clinical Setting
    • M.EhrichC.DeciuT.Zwiefelhofer. Noninvasive Detection of Fetal Trisomy 21 by Sequencing of DNA in Maternal Blood: A Study in a Clinical Setting. Obstet. Gynecol. 2011, 204, 205.e1–11.
    • (2011) Obstet. Gynecol , vol.204 , pp. 1-11
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 65
    • 55849124028 scopus 로고    scopus 로고
    • Noninvasive Diagnosis of Fetal Aneuploidy by Shotgun Sequencing DNA from Maternal Blood
    • H.C.FanY.J.BlumenfeldU.Chitkara. Noninvasive Diagnosis of Fetal Aneuploidy by Shotgun Sequencing DNA from Maternal Blood. Proc. Natl. Acad. Sci. U. S. A. 2008, 105, 16266–16271.
    • (2008) Proc. Natl. Acad. Sci. U. S. A , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3
  • 66
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive Prenatal Detection and Selective Analysis of Cell-Free DNA Obtained from Maternal Blood: Evaluation for Trisomy 21 and Trisomy 18
    • A.B.SparksC.A.StrubleE.T.Wang. Noninvasive Prenatal Detection and Selective Analysis of Cell-Free DNA Obtained from Maternal Blood: Evaluation for Trisomy 21 and Trisomy 18. Obstet. Gynecol. 2012, 206, 319.e1–9.
    • (2012) Obstet. Gynecol , vol.206 , pp. 1-9
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3
  • 68
    • 80051688000 scopus 로고    scopus 로고
    • Field Guide to Next-Generation DNA Sequencers
    • T.C.GlennField Guide to Next-Generation DNA Sequencers. Mol. Ecol. Resources2011, 11, 759–769.
    • (2011) Mol. Ecol. Resources , vol.11 , pp. 759-769
    • Glenn, T.C.1
  • 69
    • 24044455869 scopus 로고    scopus 로고
    • Genome Sequencing in Microfabricated High-Density Picoliter Reactors
    • M.MarguliesM.EgholmW.E.Altman. Genome Sequencing in Microfabricated High-Density Picoliter Reactors. Nature2005, 437, 376–380.
    • (2005) Nature , vol.437 , pp. 376-380
    • Margulies, M.1    Egholm, M.2    Altman, W.E.3
  • 70
    • 84896691791 scopus 로고    scopus 로고
    • DNA Sequencing versus Standard Prenatal Aneuploidy Screening
    • D.W.BianchiR.L.ParkerJ.Wentworth. DNA Sequencing versus Standard Prenatal Aneuploidy Screening. N. Engl. J. Med. 2014, 370, 799–808.
    • (2014) N. Engl. J. Med , vol.370 , pp. 799-808
    • Bianchi, D.W.1    Parker, R.L.2    Wentworth, J.3
  • 71
    • 84880042743 scopus 로고    scopus 로고
    • Maternal cfDNA Screening for Down Syndrome—A Cost Sensitivity Analysis
    • H.CuckleP.BennE.Pergament. Maternal cfDNA Screening for Down Syndrome—A Cost Sensitivity Analysis. Prenat. Diagn. 2013, 33, 636–642.
    • (2013) Prenat. Diagn , vol.33 , pp. 636-642
    • Cuckle, H.1    Benn, P.2    Pergament, E.3
  • 73
    • 84880304596 scopus 로고    scopus 로고
    • Clinical Utility and Cost of Non-Invasive Prenatal Testing with cfDNA Analysis in High-Risk Women Based on a US Population
    • K.SongT.J.MusciA.B.CaugheyClinical Utility and Cost of Non-Invasive Prenatal Testing with cfDNA Analysis in High-Risk Women Based on a US Population. J. Matern. Fetal Neonatal Med. 2013, 26, 1180–1185.
    • (2013) J. Matern. Fetal Neonatal Med , vol.26 , pp. 1180-1185
    • Song, K.1    Musci, T.J.2    Caughey, A.B.3
  • 74
    • 84941912742 scopus 로고    scopus 로고
    • California Department of Public Health. Genetic Disease Screening Program. 2011. http://www.cdph.ca.gov/programs/centerforfamilyhealth/pages/gdspfactsheet.aspx
    • (2011) Genetic Disease Screening Program
  • 75
    • 23944521798 scopus 로고    scopus 로고
    • A Cost-Effectiveness Analysis of Prenatal Screening Strategies for Down syndrome
    • A.O.OdiboD.M.StamilioD.B.Nelson. A Cost-Effectiveness Analysis of Prenatal Screening Strategies for Down syndrome. Obstet Gynecol. 2005, 106, 562–568.
    • (2005) Obstet Gynecol , vol.106 , pp. 562-568
    • Odibo, A.O.1    Stamilio, D.M.2    Nelson, D.B.3
  • 76
    • 84941892219 scopus 로고    scopus 로고
    • American Pregnancy Association. Amniocentesis. 2006. http://americanpregnancy.org/prenataltesting/amniocentesis.html
    • (2006) Amniocentesis
  • 79
    • 84865591846 scopus 로고    scopus 로고
    • A Tale of Three Next Generation Sequencing Platforms—Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq Sequencers
    • M.QuailA Tale of Three Next Generation Sequencing Platforms—Comparison of Ion Torrent, Pacific Biosciences and Illumina MiSeq Sequencers. BMC Genomics2012, 13, 341.
    • (2012) BMC Genomics , vol.13 , pp. 341
    • Quail, M.1


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