메뉴 건너뛰기




Volumn 45, Issue 5, 2015, Pages 530-538

Non-invasive prenatal testing for trisomies 21, 18 and 13: Clinical experience from 146 958 pregnancies

Author keywords

cell free DNA; clinical performance; CNV; false negative; false positive; low risk population; mosaicism; NIPT; trisomy

Indexed keywords

DNA;

EID: 84928601078     PISSN: 09607692     EISSN: 14690705     Source Type: Journal    
DOI: 10.1002/uog.14792     Document Type: Article
Times cited : (331)

References (40)
  • 2
    • 85045797401 scopus 로고    scopus 로고
    • First and second trimester antenatal screening for Down's syndrome: The results of the Serum, Urine and Ultrasound Screening Study (SURUSS)
    • SURUSS Research Group.
    • Wald NJ, Rodeck C, Hackshaw AK, Walters J, Chitty L, Mackinson AM,; SURUSS Research Group. First and second trimester antenatal screening for Down's syndrome: the results of the Serum, Urine and Ultrasound Screening Study (SURUSS). Health Technol Assess 2003; 7: 1-77.
    • (2003) Health Technol Assess , vol.7 , pp. 1-77
    • Wald, N.J.1    Rodeck, C.2    Hackshaw, A.K.3    Walters, J.4    Chitty, L.5    Mackinson, A.M.6
  • 3
    • 78650803485 scopus 로고    scopus 로고
    • Screening for fetal aneuploidies at 11 to 13 weeks
    • Nicolaides KH,. Screening for fetal aneuploidies at 11 to 13 weeks. Prenat Diagn 2011; 31: 7-15.
    • (2011) Prenat Diagn , vol.31 , pp. 7-15
    • Nicolaides, K.H.1
  • 4
    • 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,. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008; 105: 16 266-16 271.
    • (2008) Proc Natl Acad Sci USA , vol.105 , pp. 16266-16271
    • Fan, H.C.1    Blumenfeld, Y.J.2    Chitkara, U.3    Hudgins, L.4    Quake, S.R.5
  • 11
    • 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.e1-5.
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 322e1-5
    • Ashoor, G.1    Syngelaki, A.2    Wagner, M.3    Birdir, C.4    Nicolaides, K.H.5
  • 15
    • 84877926367 scopus 로고    scopus 로고
    • Noninvasive prenatal testing/noninvasive prenatal diagnosis: The position of the National Society of Genetic Counselors
    • Devers PL, Cronister A, Ormond KE, Facio F, Brasington CK, Flodman P,. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. J Genet Couns 2013; 22: 291-295.
    • (2013) J Genet Couns , vol.22 , pp. 291-295
    • Devers, P.L.1    Cronister, A.2    Ormond, K.E.3    Facio, F.4    Brasington, C.K.5    Flodman, P.6
  • 16
    • 84870156368 scopus 로고    scopus 로고
    • Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy
    • American College of Obstetricians and Gynecologists Committee on Genetics.
    • American College of Obstetricians and Gynecologists Committee on Genetics. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012; 120: 1532-1534.
    • (2012) Obstet Gynecol , vol.120 , pp. 1532-1534
  • 18
    • 84880038440 scopus 로고    scopus 로고
    • Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population
    • Song Y, Liu C, Qi H, Zhang Y, Bian X, Liu J,. Noninvasive prenatal testing of fetal aneuploidies by massively parallel sequencing in a prospective Chinese population. Prenat Diagn 2013; 33: 700-706.
    • (2013) Prenat Diagn , vol.33 , pp. 700-706
    • Song, Y.1    Liu, C.2    Qi, H.3    Zhang, Y.4    Bian, X.5    Liu, J.6
  • 24
    • 84898464885 scopus 로고    scopus 로고
    • Noninvasive prenatal testing: Limitations and unanswered questions
    • Lutgendorf MA, Stoll KA, Knutzen DM, Foglia LM,. Noninvasive prenatal testing: limitations and unanswered questions. Genet Med 2014; 16: 281-285.
    • (2014) Genet Med , vol.16 , pp. 281-285
    • Lutgendorf, M.A.1    Stoll, K.A.2    Knutzen, D.M.3    Foglia, L.M.4
  • 27
    • 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.e1-9.
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 319e1-9
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 30
    • 84896500248 scopus 로고    scopus 로고
    • Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies
    • Hudecova I, Sahota D, Heung MM, Jin Y, Lee WS, Leung TY, Lo YM, Chiu RW,. Maternal plasma fetal DNA fractions in pregnancies with low and high risks for fetal chromosomal aneuploidies. PLoS One 2014; 9: e88484.
    • (2014) PLoS One , vol.9 , pp. e88484
    • Hudecova, I.1    Sahota, D.2    Heung, M.M.3    Jin, Y.4    Lee, W.S.5    Leung, T.Y.6    Lo, Y.M.7    Chiu, R.W.8
  • 31
    • 84871369642 scopus 로고    scopus 로고
    • The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy
    • Brar H, Wang E, Struble C, Musci TJ, Norton ME,. The fetal fraction of cell-free DNA in maternal plasma is not affected by a priori risk of fetal trisomy. J Matern Fetal Neonatal Med 2013; 26: 143-145.
    • (2013) J Matern Fetal Neonatal Med , vol.26 , pp. 143-145
    • Brar, H.1    Wang, E.2    Struble, C.3    Musci, T.J.4    Norton, M.E.5
  • 32
    • 84880035770 scopus 로고    scopus 로고
    • The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies
    • Canick JA, Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE,. The impact of maternal plasma DNA fetal fraction on next generation sequencing tests for common fetal aneuploidies. Prenat Diagn 2013; 33: 667-674.
    • (2013) Prenat Diagn , vol.33 , pp. 667-674
    • Canick, J.A.1    Palomaki, G.E.2    Kloza, E.M.3    Lambert-Messerlian, G.M.4    Haddow, J.E.5
  • 35
    • 84861419058 scopus 로고    scopus 로고
    • Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells
    • Faas BH, de Ligt J, Janssen I, Eggink AJ, Wijnberger LD, van Vugt JM, Vissers L, Geurts van Kessel A,. Non-invasive prenatal diagnosis of fetal aneuploidies using massively parallel sequencing-by-ligation and evidence that cell-free fetal DNA in the maternal plasma originates from cytotrophoblastic cells. Expert Opin Biol Ther 2012; 12 (Suppl 1): S19-S26.
    • (2012) Expert Opin Biol Ther , vol.12 , pp. S19-S26
    • Faas, B.H.1    De Ligt, J.2    Janssen, I.3    Eggink, A.J.4    Wijnberger, L.D.5    Van Vugt, J.M.6    Vissers, L.7    Geurts Van Kessel, A.8
  • 37
    • 84878120833 scopus 로고    scopus 로고
    • Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples
    • Futch T, Spinosa J, Bhatt S, de Feo E, Rava RP, Sehnert AJ,. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plasma DNA samples. Prenat Diagn 2013; 33: 569-574.
    • (2013) Prenat Diagn , vol.33 , pp. 569-574
    • Futch, T.1    Spinosa, J.2    Bhatt, S.3    De Feo, E.4    Rava, R.P.5    Sehnert, A.J.6
  • 38
    • 84873711791 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
    • Srinivasan A, Bianchi DW, Huang H, Sehnert AJ, Rava RP,. Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma. Am J Hum Genet 2013; 92: 167-176.
    • (2013) Am J Hum Genet , vol.92 , pp. 167-176
    • Srinivasan, A.1    Bianchi, D.W.2    Huang, H.3    Sehnert, A.J.4    Rava, R.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.