메뉴 건너뛰기




Volumn 77, Issue 2, 2014, Pages 73-77

Noninvasive prenatal diagnosis using next-generation sequencing

Author keywords

Circulating fetal DNA; Next generation sequencing; Noninvasive prenatal diagnosis

Indexed keywords

DNA; NUCLEIC ACID;

EID: 84896314812     PISSN: 03787346     EISSN: 1423002X     Source Type: Journal    
DOI: 10.1159/000355693     Document Type: Review
Times cited : (7)

References (38)
  • 1
    • 33645130154 scopus 로고    scopus 로고
    • Mendelian disorders deserve more attention
    • Antonarakis SE, Beckmann JS: Mendelian disorders deserve more attention. Nat Rev Genet 2006; 7: 277-282.
    • (2006) Nat Rev Genet , vol.7 , pp. 277-282
    • Antonarakis, S.E.1    Beckmann, J.S.2
  • 2
    • 0021871332 scopus 로고
    • The effect of Mendelian disease on human health: A measurement
    • Costa T, Scriver CR, Childs B: The effect of Mendelian disease on human health: A measurement. Am J Med Genet 1985; 21: 231-242.
    • (1985) Am J Med Genet , vol.21 , pp. 231-242
    • Costa, T.1    Scriver, C.R.2    Childs, B.3
  • 4
    • 38449105506 scopus 로고    scopus 로고
    • Invasive prenatal testing for aneuploidy
    • American College Of Obstetricians And Gynecologists: ACOG Practice Bulletin No 88 December
    • American College of Obstetricians and Gynecologists: ACOG Practice Bulletin No. 88, December 2007. Invasive prenatal testing for aneuploidy. Obstet Gynecol 2007; 110: 1459-1467.
    • (2007) Obstet Gynecol 2007 , vol.110 , pp. 1459-1467
  • 6
    • 1642574222 scopus 로고    scopus 로고
    • Size distributions of maternal and fetal DNA in maternal plasma
    • Chan KC, Zhang J, Hui AB, et al: Size distributions of maternal and fetal DNA in maternal plasma. Clin Chem 2004; 50: 88-92.
    • (2004) Clin Chem , vol.50 , pp. 88-92
    • Chan, K.C.1    Zhang, J.2    Hui, A.B.3
  • 7
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, 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.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 8
    • 0043124696 scopus 로고    scopus 로고
    • Kinetics of SRY gene appearance in maternal serum: Detection by real time PCR in early pregnancy after assisted reproductive technique
    • Guibert J, Benachi A, Grebille AG, Ernault P, Zorn JR, Costa JM: Kinetics of SRY gene appearance in maternal serum: Detection by real time PCR in early pregnancy after assisted reproductive technique. Hum Reprod 2003; 18: 1733-1736.
    • (2003) Hum Reprod , vol.18 , pp. 1733-1736
    • Guibert, J.1    Benachi, A.2    Grebille, A.G.3    Ernault, P.4    Zorn, J.R.5    Costa, J.M.6
  • 9
    • 26844478953 scopus 로고    scopus 로고
    • Detection of the placental epigenetic signature of the maspin gene in maternal plasma
    • Chim SS, Tong YK, Chiu RW, et al: Detection of the placental epigenetic signature of the maspin gene in maternal plasma. Proc Natl Acad Sci USA 2005; 102: 14753-14758.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 14753-14758
    • Chim, S.S.1    Tong, Y.K.2    Chiu, R.W.3
  • 10
    • 1942501800 scopus 로고    scopus 로고
    • Detection of cell free placental DNA in maternal plasma: Direct evidence from three cases of confined placental mosaicism
    • Masuzaki H, Miura K, Yoshiura KI, Yoshimura S, Niikawa N, Ishimaru T: Detection of cell free placental DNA in maternal plasma: Direct evidence from three cases of confined placental mosaicism. J Med Genet 2004; 41: 289-292.
    • (2004) J Med Genet , vol.41 , pp. 289-292
    • Masuzaki, H.1    Miura, K.2    Yoshiura, K.I.3    Yoshimura, S.4    Niikawa, N.5    Ishimaru, T.6
  • 12
    • 1542320285 scopus 로고    scopus 로고
    • Cell-free fetal DNA is not present in plasma of nonpregnant mothers
    • author reply 681
    • Rijnders RJ, Christiaens GC, Soussan AA, van der Schoot CE: Cell-free fetal DNA is not present in plasma of nonpregnant mothers. Clin Chem 2004; 50: 679-681, author reply 681.
    • (2004) Clin Chem , vol.50 , pp. 679-681
    • Rijnders, R.J.1    Christiaens, G.C.2    Soussan, A.A.3    Van Der Schoot, C.E.4
  • 13
    • 0038620220 scopus 로고    scopus 로고
    • No evidence of fetal DNA persistence in maternal plasma after pregnancy
    • Smid M, Galbiati S, Vassallo A, et al: No evidence of fetal DNA persistence in maternal plasma after pregnancy. Hum Genet 2003; 112: 617-618.
    • (2003) Hum Genet , vol.112 , pp. 617-618
    • Smid, M.1    Galbiati, S.2    Vassallo, A.3
  • 14
    • 77957736539 scopus 로고    scopus 로고
    • Quantification of fetal DNA by use of methylationbased DNA discrimination
    • Nygren AO, Dean J, Jensen TJ, et al: Quantification of fetal DNA by use of methylationbased DNA discrimination. Clin Chem 2010; 56: 1627-1635.
    • (2010) Clin Chem , vol.56 , pp. 1627-1635
    • Nygren, A.O.1    Dean, J.2    Jensen, T.J.3
  • 15
    • 0034818672 scopus 로고    scopus 로고
    • Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia
    • Rijnders RJ, der Schoot CE v, Bossers B, de Vroede MA, Christiaens GC: Fetal sex determination from maternal plasma in pregnancies at risk for congenital adrenal hyperplasia. Obstet Gynecol 2001; 98: 374-378.
    • (2001) Obstet Gynecol , vol.98 , pp. 374-378
    • Rijnders, R.J.1    Der Schoot, C.E.V.2    Bossers, B.3    De Vroede, M.A.4    Christiaens, G.C.5
  • 16
    • 0036231537 scopus 로고    scopus 로고
    • Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: A feasibility study
    • Chiu RW, Lau TK, Cheung PT, Gong ZQ, Leung TN, Lo YM: Noninvasive prenatal exclusion of congenital adrenal hyperplasia by maternal plasma analysis: A feasibility study. Clin Chem 2002; 48: 778-780.
    • (2002) Clin Chem , vol.48 , pp. 778-780
    • Chiu, R.W.1    Lau, T.K.2    Cheung, P.T.3    Gong, Z.Q.4    Leung, T.N.5    Lo, Y.M.6
  • 17
    • 80051564369 scopus 로고    scopus 로고
    • Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-Analysis
    • Devaney SA, Palomaki GE, Scott JA, Bianchi DW: Noninvasive fetal sex determination using cell-free fetal DNA: A systematic review and meta-Analysis. JAMA 2011; 306: 627-636.
    • (2011) JAMA , vol.306 , pp. 627-636
    • Devaney, S.A.1    Palomaki, G.E.2    Scott, J.A.3    Bianchi, D.W.4
  • 18
    • 0036692036 scopus 로고    scopus 로고
    • Prediction of fetal D status from maternal plasma: Introduction of a new noninvasive fetal RHD genotyping service
    • Finning KM, Martin PG, Soothill PW, Avent ND: Prediction of fetal D status from maternal plasma: Introduction of a new noninvasive fetal RHD genotyping service. Transfusion (Paris) 2002; 42: 1079-1085.
    • (2002) Transfusion (Paris , vol.42 , pp. 1079-1085
    • Finning, K.M.1    Martin, P.G.2    Soothill, P.W.3    Avent, N.D.4
  • 19
    • 0033968645 scopus 로고    scopus 로고
    • Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma
    • Amicucci P, Gennarelli M, Novelli G, Dallapiccola B: Prenatal diagnosis of myotonic dystrophy using fetal DNA obtained from maternal plasma. Clin Chem 2000; 46: 301-302.
    • (2000) Clin Chem , vol.46 , pp. 301-302
    • Amicucci, P.1    Gennarelli, M.2    Novelli, G.3    Dallapiccola, B.4
  • 20
    • 0037190608 scopus 로고    scopus 로고
    • Prenatal exclusion of beta thalassaemia major by examination of maternal plasma
    • Chiu RW, Lau TK, Leung TN, Chow KC, Chui DH, Lo YM: Prenatal exclusion of beta thalassaemia major by examination of maternal plasma. Lancet 2002; 360: 998-1000.
    • (2002) Lancet , vol.360 , pp. 998-1000
    • Chiu, R.W.1    Lau, T.K.2    Leung, T.N.3    Chow, K.C.4    Chui, D.H.5    Lo, Y.M.6
  • 21
    • 13844269123 scopus 로고    scopus 로고
    • Detection of paternally inherited fetal point mutations for beta-Thalassemia using size-fractionated cell-free DNA in maternal plasma
    • Li Y, Di NE, Vitucci A, Zimmermann B, Holzgreve W, Hahn S: Detection of paternally inherited fetal point mutations for beta-Thalassemia using size-fractionated cell-free DNA in maternal plasma. JAMA 2005; 293: 843-849.
    • (2005) JAMA , vol.293 , pp. 843-849
    • Li, Y.1    Di, N.E.2    Vitucci, A.3    Zimmermann, B.4    Holzgreve, W.5    Hahn, S.6
  • 22
    • 1642423713 scopus 로고    scopus 로고
    • Twostage elevation of cell-free fetal DNA in maternal sera before onset of preeclampsia
    • Levine RJ, Qian C, Leshane ES, et al: Twostage elevation of cell-free fetal DNA in maternal sera before onset of preeclampsia. Am J Obstet Gynecol 2004; 190: 707-713.
    • (2004) Am J Obstet Gynecol , vol.190 , pp. 707-713
    • Levine, R.J.1    Qian, C.2    Leshane, E.S.3
  • 23
    • 0032992867 scopus 로고    scopus 로고
    • Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia
    • Lo YM, Leung TN, Tein MS, et al: Quantitative abnormalities of fetal DNA in maternal serum in preeclampsia. Clin Chem 1999; 45: 184-188.
    • (1999) Clin Chem , vol.45 , pp. 184-188
    • Lo, Y.M.1    Leung, T.N.2    Tein, M.S.3
  • 24
    • 0242432340 scopus 로고    scopus 로고
    • The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia
    • Ng EK, Leung TN, Tsui NB, et al: The concentration of circulating corticotropin-releasing hormone mRNA in maternal plasma is increased in preeclampsia. Clin Chem 2003; 49: 727-731.
    • (2003) Clin Chem , vol.49 , pp. 727-731
    • Ng, E.K.1    Leung, T.N.2    Tsui, N.B.3
  • 25
    • 0041441137 scopus 로고    scopus 로고
    • Detection of chromosome 21-encoded mRNA of placental origin in maternal plasma
    • Oudejans CB, Go AT, Visser A, et al: Detection of chromosome 21-encoded mRNA of placental origin in maternal plasma. Clin Chem 2003; 49: 1445-1449.
    • (2003) Clin Chem , vol.49 , pp. 1445-1449
    • Oudejans, C.B.1    Go, A.T.2    Visser, A.3
  • 26
    • 3242703837 scopus 로고    scopus 로고
    • MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis
    • Ding C, Chiu RW, Lau TK, et al: MS analysis of single-nucleotide differences in circulating nucleic acids: Application to noninvasive prenatal diagnosis. Proc Natl Acad Sci USA 2004; 101: 10762-10767.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 10762-10767
    • Ding, C.1    Chiu, R.W.2    Lau, T.K.3
  • 27
    • 33846903851 scopus 로고    scopus 로고
    • Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection
    • Lo YM, Tsui NB, Chiu RW, et al: Plasma placental RNA allelic ratio permits noninvasive prenatal chromosomal aneuploidy detection. Nat Med 2007; 13: 218-223.
    • (2007) Nat Med , vol.13 , pp. 218-223
    • Lo, Y.M.1    Tsui, N.B.2    Chiu, R.W.3
  • 28
    • 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 USA 2008; 105: 20458-20463.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3
  • 29
    • 79959937504 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing
    • Chen EZ, Chiu RW, Sun H, et al: Noninvasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One 2011; 6:e21791.
    • (2011) PLoS One , vol.6
    • Chen, E.Z.1    Chiu, R.W.2    Sun, H.3
  • 30
    • 78651393550 scopus 로고    scopus 로고
    • Carrier testing for severe childhood recessive diseases by next-generation sequencing
    • 65ra4
    • Bell CJ, Dinwiddie DL, Miller NA, et al: Carrier testing for severe childhood recessive diseases by next-generation sequencing. Sci Transl Med 2011; 3: 65ra4.
    • (2011) Sci Transl Med , vol.3
    • Bell, C.J.1    Dinwiddie, D.L.2    Miller, N.A.3
  • 32
    • 84862118837 scopus 로고    scopus 로고
    • Noninvasive whole-genome sequencing of a human fetus
    • 137ra76
    • Kitzman JO, Snyder MW, Ventura M, et al: Noninvasive whole-genome sequencing of a human fetus. Sci Transl Med 2012; 4: 137ra76.
    • (2012) Sci Transl Med , vol.4
    • Kitzman, J.O.1    Snyder, M.W.2    Ventura, M.3
  • 33
    • 84865208871 scopus 로고    scopus 로고
    • Rate of de novo mutations and the importance of father's age to disease risk
    • Kong A, Frigge ML, Masson G, et al: Rate of de novo mutations and the importance of father's age to disease risk. Nature 2012; 488: 471-475.
    • (2012) Nature , vol.488 , pp. 471-475
    • Kong, A.1    Frigge, M.L.2    Masson, G.3
  • 34
    • 79961152095 scopus 로고    scopus 로고
    • Growth of genome screening needs debate
    • Goldstein DB: Growth of genome screening needs debate. Nature 2011; 476: 27-28.
    • (2011) Nature , vol.476 , pp. 27-28
    • Goldstein, D.B.1
  • 35
    • 0037046654 scopus 로고    scopus 로고
    • New strategy for prenatal diagnosis of X-linked disorders
    • Costa JM, Benachi A, Gautier E: New strategy for prenatal diagnosis of X-linked disorders. N Engl J Med 2002;346:1502.
    • (2002) N Engl J Med , vol.346 , pp. 1502
    • Costa, J.M.1    Benachi, A.2    Gautier, E.3
  • 36
    • 0032506669 scopus 로고    scopus 로고
    • Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma
    • Lo YM, Hjelm NM, Fidler C, et al: Prenatal diagnosis of fetal RhD status by molecular analysis of maternal plasma. N Engl J Med 1998;339:1734-1738.
    • (1998) N Engl J Med , vol.339 , pp. 1734-1738
    • Lo, Y.M.1    Hjelm, N.M.2    Fidler, C.3
  • 37
    • 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
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3
  • 38
    • 78751683468 scopus 로고    scopus 로고
    • Noninvasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study
    • Chiu RW, Akolekar R, Zheng YW, et al: Noninvasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: Large scale validity study. BMJ 2011;342: C7401.
    • (2011) BMJ , vol.342
    • Chiu, R.W.1    Akolekar, R.2    Zheng, Y.W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.