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Volumn 5, Issue 1, 2013, Pages 125-131

Noninvasive screening tools for down syndrome: A review

Author keywords

Diagnostic techniques; Down syndrome; Noninvasive screening

Indexed keywords

ANATOMICAL ECHOGRAPHY; ANEUPLOIDY; DIAGNOSTIC PROCEDURE; DOWN SYNDROME; ECHOGRAPHY; FALSE POSITIVE RESULT; GENOTYPE; GESTATIONAL AGE; HAPLOTYPE MAP; HUMAN; MATERNAL SERUM SCREENING TEST; NON INVASIVE PROCEDURE; PRENATAL SCREENING; REVIEW; SCREENING TEST; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 84874990907     PISSN: None     EISSN: 11791411     Source Type: Journal    
DOI: 10.2147/IJWH.S31183     Document Type: Review
Times cited : (8)

References (42)
  • 1
    • 70449245071 scopus 로고
    • Study of somatic chromosomes from 9 mongoloid children
    • French
    • Lejeune J, Gautier M, Turpin R. Study of somatic chromosomes from 9 mongoloid children. C R Hebd Seances Acad Sci. 1959;248:1721-1722. French.
    • (1959) C R Hebd Seances Acad Sci , vol.248 , pp. 1721-1722
    • Lejeune, J.1    Gautier, M.2    Turpin, R.3
  • 2
    • 84859894558 scopus 로고    scopus 로고
    • Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe
    • Wellesley D, Dolk H, Boyd PA, et al. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe. Eur J Hum Genet. 2012;20:521-526.
    • (2012) Eur J Hum Genet , vol.20 , pp. 521-526
    • Wellesley, D.1    Dolk, H.2    Boyd, P.A.3
  • 3
    • 33845942655 scopus 로고    scopus 로고
    • ACOG Committee on Practice Bulletins
    • ACOG Practice Bulletin No 77: screening for fetal chromosomal abnormalities
    • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217-227.
    • (2007) Obstet Gynecol , vol.109 , pp. 217-227
  • 4
    • 38449105506 scopus 로고    scopus 로고
    • ACOG Committee on Practice Bulletins
    • ACOG Practice Bulletin No 88, December 2007Invasive prenatal testing for aneuploidy
    • ACOG Committee on Practice Bulletins. ACOG Practice Bulletin No 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol. 2007;110:1459-1467.
    • (2007) Obstet Gynecol , vol.110 , pp. 1459-1467
  • 5
    • 0037402894 scopus 로고    scopus 로고
    • Ultrasound screening in pregnancy: Advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas
    • Getz L, Kirkengen AL. Ultrasound screening in pregnancy: advancing technology, soft markers for fetal chromosomal aberrations, and unacknowledged ethical dilemmas. Soc Sci Med. 2003;56:2045-2057.
    • (2003) Soc Sci Med , vol.56 , pp. 2045-2057
    • Getz, L.1    Kirkengen, A.L.2
  • 6
    • 0033777022 scopus 로고    scopus 로고
    • Ultrasound screening in pregnancy: A systematic review of the clinical effectiveness, cost-effectiveness and women's views
    • 1-193
    • Bricker L, Garcia J, Henderson J. Ultrasound screening in pregnancy: a systematic review of the clinical effectiveness, cost-effectiveness and women's views. Health Technol Assess. 2000;4:i-vi, 1-193.
    • (2000) Health Technol Assess , vol.4
    • Bricker, L.1    Garcia, J.2    Henderson, J.3
  • 7
    • 0034986530 scopus 로고    scopus 로고
    • Sonographic markers of fetal trisomies: Second trimester
    • Nyberg DA, Souter VL. Sonographic markers of fetal trisomies: second trimester. J Ultrasound Med. 2001;20:655-674.
    • (2001) J Ultrasound Med , vol.20 , pp. 655-674
    • Nyberg, D.A.1    Souter, V.L.2
  • 8
    • 77954107966 scopus 로고    scopus 로고
    • The history of the second-trimester sonographic markers for detecting fetal Down syndrome, and their current role in obstetric practice
    • Benacerraf BR. The history of the second-trimester sonographic markers for detecting fetal Down syndrome, and their current role in obstetric practice. Prenat Diagn. 2010;30:644-652.
    • (2010) Prenat Diagn , vol.30 , pp. 644-652
    • Benacerraf, B.R.1
  • 9
    • 0034081313 scopus 로고    scopus 로고
    • The 'genetic sonogram': Comparison of the index scoring system with the age-adjusted US risk assessment
    • Winter TC, Uhrich SB, Souter VL, Nyberg DA. The 'genetic sonogram': comparison of the index scoring system with the age-adjusted US risk assessment. Radiology. 2000;215:775-782.
    • (2000) Radiology , vol.215 , pp. 775-782
    • Winter, T.C.1    Uhrich, S.B.2    Souter, V.L.3    Nyberg, D.A.4
  • 10
    • 0031468889 scopus 로고    scopus 로고
    • The incorporation of maternal age into the sonographic scoring index for the detection at 14-20 weeks of fetuses with Down's syndrome
    • Bromley B, Lieberman E, Benacerraf BR. The incorporation of maternal age into the sonographic scoring index for the detection at 14-20 weeks of fetuses with Down's syndrome. Ultrasound Obstet Gynecol. 1997;10:321-324.
    • (1997) Ultrasound Obstet Gynecol , vol.10 , pp. 321-324
    • Bromley, B.1    Lieberman, E.2    Benacerraf, B.R.3
  • 11
    • 27744477773 scopus 로고    scopus 로고
    • First-trimester or second-trimester screening, or both, for Down's syndrome
    • Malone FD, Janick JA, Ball RH, et al. First-trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med. 2005;353:2001-2011.
    • (2005) N Engl J Med , vol.353 , pp. 2001-2011
    • Malone, F.D.1    Janick, J.A.2    Ball, R.H.3
  • 12
    • 84865456792 scopus 로고    scopus 로고
    • Invasive procedures for prenatal diagnosis: Any future left?
    • Simpson JL. Invasive procedures for prenatal diagnosis: any future left? Best Pract Res Clin Obstet Gynaecol. 2012;26:625-638.
    • (2012) Best Pract Res Clin Obstet Gynaecol , vol.26 , pp. 625-638
    • Simpson, J.L.1
  • 13
    • 73849092216 scopus 로고    scopus 로고
    • Screening for fetal aneuploidy and neural tube defects
    • Driscoll DA, Gross SJ. 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
  • 14
    • 0037333249 scopus 로고    scopus 로고
    • Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: A review of three years prospective experience
    • Spencer K, Spencer CE, Power M, Dawson C, Nicolaides KH. Screening for chromosomal abnormalities in the first trimester using ultrasound and maternal serum biochemistry in a one-stop clinic: a review of three years prospective experience. BJOG. 2003;110:281-286.
    • (2003) BJOG , vol.110 , pp. 281-286
    • Spencer, K.1    Spencer, C.E.2    Power, M.3    Dawson, C.4    Nicolaides, K.H.5
  • 15
    • 78649586753 scopus 로고    scopus 로고
    • First-trimester combined screening for trisomy 21 at 7-14 weeks' gestation
    • Wright D, Spencer K, Kagan KK. First-trimester combined screening for trisomy 21 at 7-14 weeks' gestation. Ultrasound Obstet Gynecol. 2010;36:404-411.
    • (2010) Ultrasound Obstet Gynecol , vol.36 , pp. 404-411
    • Wright, D.1    Spencer, K.2    Kagan, K.K.3
  • 16
    • 68149158602 scopus 로고    scopus 로고
    • Performance of first-trimester screening between gestational weeks 7 and 13
    • Tørring N. Performance of first-trimester screening between gestational weeks 7 and 13. Clin Chem. 2009;55:1564-1567.
    • (2009) Clin Chem , vol.55 , pp. 1564-1567
    • Tørring, N.1
  • 17
    • 55449121030 scopus 로고    scopus 로고
    • Improved performance of first-trimester combined screening for trisomy 21 with the double test taken before a gestational age of 10 weeks
    • Kirkegaard I, Petersen OB, Uldbjerg N, Tørring N. Improved performance of first-trimester combined screening for trisomy 21 with the double test taken before a gestational age of 10 weeks. Prenat Diagn. 2008;28:839-844.
    • (2008) Prenat Diagn , vol.28 , pp. 839-844
    • Kirkegaard, I.1    Petersen, O.B.2    Uldbjerg, N.3    Tørring, N.4
  • 18
    • 4043100417 scopus 로고    scopus 로고
    • First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study
    • Borrell A, Casals E, Fortuny A, et al. First-trimester screening for trisomy 21 combining biochemistry and ultrasound at individually optimal gestational ages. An interventional study. Prenat Diagn. 2004;24:541-545.
    • (2004) Prenat Diagn , vol.24 , pp. 541-545
    • Borrell, A.1    Casals, E.2    Fortuny, A.3
  • 20
    • 58049202879 scopus 로고    scopus 로고
    • The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis
    • Wright CF, Burton H. The use of cell-free fetal nucleic acids in maternal blood for non-invasive prenatal diagnosis. Hum Reprod Update. 2009;15:139-151.
    • (2009) Hum Reprod Update , vol.15 , pp. 139-151
    • Wright, C.F.1    Burton, H.2
  • 23
    • 84869484158 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of Down syndrome: Current knowledge and novel insights
    • Sifakis S, Papantoniou N, Kappou D, Antsaklis A. Noninvasive prenatal diagnosis of Down syndrome: current knowledge and novel insights. J Perinat Med. 2012;40:319-327.
    • (2012) J Perinat Med , vol.40 , pp. 319-327
    • Sifakis, S.1    Papantoniou, N.2    Kappou, D.3    Antsaklis, A.4
  • 24
    • 34548809648 scopus 로고    scopus 로고
    • Development of noninvasive fetal DNA diagnosis from nucleated erythrocytes circulating in maternal blood
    • Sekizawa A, Purwosunu Y, Farina A, et al. Development of noninvasive fetal DNA diagnosis from nucleated erythrocytes circulating in maternal blood. Prenat Diagn. 2007;27:846-848.
    • (2007) Prenat Diagn , vol.27 , pp. 846-848
    • Sekizawa, A.1    Purwosunu, Y.2    Farina, A.3
  • 26
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo Y, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.1    Corbetta, N.2    Chamberlain, P.F.3
  • 28
    • 12944331281 scopus 로고    scopus 로고
    • Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation
    • Birch L, English CA, O'Donoghue K, Barigye O, Fisk NM, Keer JT. Accurate and robust quantification of circulating fetal and total DNA in maternal plasma from 5 to 41 weeks of gestation. Clin Chem. 2005;51:312-320.
    • (2005) Clin Chem , vol.51 , pp. 312-320
    • Birch, L.1    English, C.A.2    O'Donoghue, K.3    Barigye, O.4    Fisk, N.M.5    Keer, J.T.6
  • 29
    • 0347898005 scopus 로고    scopus 로고
    • Quantitative analysis of fetal DNA in maternal plasma and serum: Implications for noninvasive prenatal diagnosis
    • Lo YM, Tein MS, Lau TK, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet. 1998;62:768-775.
    • (1998) Am J Hum Genet , vol.62 , pp. 768-775
    • Lo, Y.M.1    Tein, M.S.2    Lau, T.K.3
  • 30
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
    • Palomaki GE, Kloza EM, Lambert-Messerlian GM. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med. 2011;13:913-920.
    • (2011) Genet Med , vol.13 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 31
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
    • Ehrich M, Deciu C, Zwiefelhofer T, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204:205. e1-e11.
    • (2011) Am J Obstet Gynecol , vol.204 , Issue.205
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 32
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing
    • Bianchi DW, Platt LD, Goldberg JD, et al. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. Obstet Gynecol. 2012;119:890-901.
    • (2012) Obstet Gynecol , vol.119 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3
  • 33
    • 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
    • Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206:319. e1-e9.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.319
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 34
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks AB, Wang ET, Struble CA, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn. 2012;32:3-9.
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 35
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
    • Zimmermann B, Hill M, Gemelos G, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn. 2012;32:1233-1241.
    • (2012) Prenat Diagn , vol.32 , pp. 1233-1241
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3
  • 37
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • Chiu RW, Chan KC, Gao Y, et al. 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;105:20458-20468.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 20458-20468
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 38
    • 84859320067 scopus 로고    scopus 로고
    • Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18
    • Ashoor G, Syngelaki A, Wagner M, Birdir C, Nicolaides KH. Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimester detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol. 2012;206:322. e1-e5.
    • (2012) Am J Obstet Gynecol , vol.206 , Issue.322
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3    Birdir, C.4    Nicolaides, K.H.5
  • 39
    • 84871536941 scopus 로고    scopus 로고
    • Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: Relation to maternal and fetal characteristics
    • Ashoor G, Syngelaki A, Poon L, Rezende J, Nicolaides K. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41:26-32.
    • (2013) Ultrasound Obstet Gynecol , vol.41 , pp. 26-32
    • Ashoor, G.1    Syngelaki, A.2    Poon, L.3    Rezende, J.4    Nicolaides, K.5
  • 40
  • 41
    • 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, Brah H, Weiss J, et al. 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. 2012;207:137. e1-e8.
    • (2012) Am J Obstet Gynecol , vol.137 , Issue.207
    • Norton, M.E.1    Brah, H.2    Weiss, J.3
  • 42
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • Nicolaides H, Syngelaki A, Ashoor G, Birdir C, Touzet G. Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol. 2012;207:374. e1-e6.
    • (2012) Am J Obstet Gynecol , vol.207 , Issue.374
    • Nicolaides, H.1    Syngelaki, A.2    Ashoor, G.3    Birdir, C.4    Touzet, G.5


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