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Volumn 13, Issue 1, 2015, Pages

Positive predictive value of non-invasive prenatal screening for fetal chromosome disorders using cell-free DNA in maternal serum: Independent clinical experience of a tertiary referral center

Author keywords

Aneuploidy; Cell free DNA; Diagnostic genetic test; NIPS; NIPT; Positive predictive value

Indexed keywords

CELL DNA; DNA;

EID: 84933527333     PISSN: None     EISSN: 17417015     Source Type: Journal    
DOI: 10.1186/s12916-015-0374-8     Document Type: Article
Times cited : (36)

References (51)
  • 2
    • 35748963250 scopus 로고    scopus 로고
    • Characterization of circulating DNA in healthy human plasma
    • Suzuki N, Kamataki A, Yamaki J, Homma Y. Characterization of circulating DNA in healthy human plasma. Clin Chim Acta. 2008;387:55-8.
    • (2008) Clin Chim Acta. , vol.387 , pp. 55-58
    • Suzuki, N.1    Kamataki, A.2    Yamaki, J.3    Homma, Y.4
  • 3
    • 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, et al. 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:S19-26.
    • (2012) Expert Opin Biol Ther. , vol.12 , pp. S19-S26
    • Faas, B.H.1    Ligt, J.2    Janssen, I.3    Eggink, A.J.4    Wijnberger, L.D.5    Vugt, J.M.6
  • 4
    • 84862492435 scopus 로고    scopus 로고
    • Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors
    • Ashoor G, Poon L, Syngelaki A, Mosimann B, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks' gestation: effect of maternal and fetal factors. Fetal Diagn Ther. 2012;31:237-43.
    • (2012) Fetal Diagn Ther. , vol.31 , pp. 237-243
    • Ashoor, G.1    Poon, L.2    Syngelaki, A.3    Mosimann, B.4    Nicolaides, K.H.5
  • 7
    • 84857868297 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study
    • Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study. Genet Med. 2012;14:296-305.
    • (2012) Genet Med. , vol.14 , pp. 296-305
    • Palomaki, G.E.1    Deciu, C.2    Kloza, E.M.3    Lambert-Messerlian, G.M.4    Haddow, J.E.5    Neveux, L.M.6
  • 8
    • 84878152406 scopus 로고    scopus 로고
    • Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma
    • Mazloom AR, Dzakula Z, Oeth P, Wang H, Jensen T, Tynan J, et al. Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma. Prenat Diagn. 2013;33:591-7.
    • (2013) Prenat Diagn. , vol.33 , pp. 591-597
    • Mazloom, A.R.1    Dzakula, Z.2    Oeth, P.3    Wang, H.4    Jensen, T.5    Tynan, J.6
  • 10
    • 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, Brar H, Weiss J, Karimi A, Laurent LC, Caughey AB, 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. e131-138.
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 137
    • Norton, M.E.1    Brar, H.2    Weiss, J.3    Karimi, A.4    Laurent, L.C.5    Caughey, A.B.6
  • 11
    • 84871532946 scopus 로고    scopus 로고
    • Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method
    • Ashoor G, Syngelaki A, Wang E, Struble C, Oliphant A, Song K, et al. Trisomy 13 detection in the first trimester of pregnancy using a chromosome-selective cell-free DNA analysis method. Ultrasound Obstet Gynecol. 2013;41:21-5.
    • (2013) Ultrasound Obstet Gynecol. , vol.41 , pp. 21-25
    • Ashoor, G.1    Syngelaki, A.2    Wang, E.3    Struble, C.4    Oliphant, A.5    Song, K.6
  • 12
    • 84878164024 scopus 로고    scopus 로고
    • Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y
    • Nicolaides KH, Syngelaki A, Gil M, Atanasova V, Markova D. Validation of targeted sequencing of single-nucleotide polymorphisms for non-invasive prenatal detection of aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn. 2013;33:575-9.
    • (2013) Prenat Diagn. , vol.33 , pp. 575-579
    • Nicolaides, K.H.1    Syngelaki, A.2    Gil, M.3    Atanasova, V.4    Markova, D.5
  • 16
    • 84900537983 scopus 로고    scopus 로고
    • Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach
    • Hall MP, Hill M, Zimmermann B, Sigurjonsson S, Westemeyer M, Saucier J, et al. Non-invasive prenatal detection of trisomy 13 using a single nucleotide polymorphism- and informatics-based approach. PLoS One. 2014;9:e96677.
    • (2014) PLoS One. , vol.9 , pp. e96677
    • Hall, M.P.1    Hill, M.2    Zimmermann, B.3    Sigurjonsson, S.4    Westemeyer, M.5    Saucier, J.6
  • 17
    • 84898827257 scopus 로고    scopus 로고
    • Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction
    • Hooks J, Wolfberg AJ, Wang ET, Struble CA, Zahn J, Juneau K, et al. Non-invasive risk assessment of fetal sex chromosome aneuploidy through directed analysis and incorporation of fetal fraction. Prenat Diagn. 2014;34:496-9.
    • (2014) Prenat Diagn. , vol.34 , pp. 496-499
    • Hooks, J.1    Wolfberg, A.J.2    Wang, E.T.3    Struble, C.A.4    Zahn, J.5    Juneau, K.6
  • 18
    • 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;33:569-74.
    • (2013) Prenat Diagn. , vol.33 , pp. 569-574
    • Futch, T.1    Spinosa, J.2    Bhatt, S.3    Feo, E.4    Rava, R.P.5    Sehnert, A.J.6
  • 19
    • 84907705050 scopus 로고    scopus 로고
    • Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA
    • Porreco RP, Garite TJ, Maurel K, Marusiak B, Ehrich M, van den Boom D, et al. Noninvasive prenatal screening for fetal trisomies 21, 18, 13 and the common sex chromosome aneuploidies from maternal blood using massively parallel genomic sequencing of DNA. Am J Obstet Gynecol. 2014;211:365. e361-365 e312.
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 365
    • Porreco, R.P.1    Garite, T.J.2    Maurel, K.3    Marusiak, B.4    Ehrich, M.5    Boom, D.6
  • 20
    • 84905091660 scopus 로고    scopus 로고
    • A single center's experience with noninvasive prenatal testing
    • Beamon CJ, Hardisty EE, Harris SC, Vora NL. A single center's experience with noninvasive prenatal testing. Genet Med. 2014;16:681-7.
    • (2014) Genet Med. , vol.16 , pp. 681-687
    • Beamon, C.J.1    Hardisty, E.E.2    Harris, S.C.3    Vora, N.L.4
  • 21
    • 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;33:700-6.
    • (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
  • 22
    • 84924051317 scopus 로고    scopus 로고
    • Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting
    • Comas C, Echevarria M, Rodriguez MA, Prats P, Rodriguez I, Serra B. Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting. J Matern Fetal Neonatal Med. 2014;1-6.
    • (2014) J Matern Fetal Neonatal Med. , pp. 1-6
    • Comas, C.1    Echevarria, M.2    Rodriguez, M.A.3    Prats, P.4    Rodriguez, I.5    Serra, B.6
  • 27
    • 84870156368 scopus 로고    scopus 로고
    • American College of O, Gynecologists Committee on G. Obstet Gynecol. 2012;120:1532-4.
    • (2012) Obstet Gynecol , vol.120 , pp. 1532-1534
  • 28
    • 84908296065 scopus 로고    scopus 로고
    • Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing
    • Dar P, Curnow KJ, Gross SJ, Hall MP, Stosic M, Demko Z, et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based non-invasive prenatal aneuploidy testing. Am J Obst Gynecol. 2014;211:527. e1-e17.
    • (2014) Am J Obst Gynecol , vol.211 , pp. 527
    • Dar, P.1    Curnow, K.J.2    Gross, S.J.3    Hall, M.P.4    Stosic, M.5    Demko, Z.6
  • 30
    • 84927176931 scopus 로고    scopus 로고
    • The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience
    • Pettit KE, Hull AD, Korty L, Jones MC, Pretorius DH. The utilization of circulating cell-free fetal DNA testing and decrease in invasive diagnostic procedures: an institutional experience. J Perinatol. 2014;34:750-3.
    • (2014) J Perinatol. , vol.34 , pp. 750-753
    • Pettit, K.E.1    Hull, A.D.2    Korty, L.3    Jones, M.C.4    Pretorius, D.H.5
  • 31
    • 84931576635 scopus 로고    scopus 로고
    • Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing
    • Louis-Jacques A, Burans C, Robinson S, Schofield E, Smulian J, Rochon M. Effect of commercial cell-free fetal DNA tests for aneuploidy screening on rates of invasive testing. Obstet Gynecol. 2014;123:1-67S.
    • (2014) Obstet Gynecol. , vol.123 , pp. 1-67S
    • Louis-Jacques, A.1    Burans, C.2    Robinson, S.3    Schofield, E.4    Smulian, J.5    Rochon, M.6
  • 33
    • 84889604341 scopus 로고    scopus 로고
    • Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing
    • Wang Y, Zhu J, Chen Y, Lu S, Chen B, Zhao X, et al. Two cases of placental T21 mosaicism: challenging the detection limits of non-invasive prenatal testing. Prenat Diagn. 2013;33:1207-10.
    • (2013) Prenat Diagn. , vol.33 , pp. 1207-1210
    • Wang, Y.1    Zhu, J.2    Chen, Y.3    Lu, S.4    Chen, B.5    Zhao, X.6
  • 34
    • 84928470965 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases
    • Wang JC, Sahoo T, Schonberg S, Kopita KA, Ross L, Patek K, et al. Discordant noninvasive prenatal testing and cytogenetic results: a study of 109 consecutive cases. Genet Med. 2015;17:234-6.
    • (2015) Genet Med , vol.17 , pp. 234-236
    • Wang, J.C.1    Sahoo, T.2    Schonberg, S.3    Kopita, K.A.4    Ross, L.5    Patek, K.6
  • 35
    • 0032863575 scopus 로고    scopus 로고
    • The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party
    • Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J. The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Party. Prenat Diagn. 1999;19:817-26.
    • (1999) Prenat Diagn , vol.19 , pp. 817-826
    • Smith, K.1    Lowther, G.2    Maher, E.3    Hourihan, T.4    Wilkinson, T.5    Wolstenholme, J.6
  • 37
    • 0024596935 scopus 로고
    • Placental mosaicism and intrauterine survival of trisomies 13 and 18
    • Kalousek DK, Barrett IJ, McGillivray BC. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet. 1989;44:338-43.
    • (1989) Am J Hum Genet. , vol.44 , pp. 338-343
    • Kalousek, D.K.1    Barrett, I.J.2    McGillivray, B.C.3
  • 38
    • 84891792588 scopus 로고    scopus 로고
    • Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X
    • Rava RP, Srinivasan A, Sehnert AJ, Bianchi DW. Circulating fetal cell-free DNA fractions differ in autosomal aneuploidies and monosomy X. Clin Chem. 2014;60:243-50.
    • (2014) Clin Chem. , vol.60 , pp. 243-250
    • Rava, R.P.1    Srinivasan, A.2    Sehnert, A.J.3    Bianchi, D.W.4
  • 40
    • 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, Akolekar R, Chan KC, Leung TY, 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 , pp. e21791
    • Chen, E.Z.1    Chiu, R.W.2    Sun, H.3    Akolekar, R.4    Chan, K.C.5    Leung, T.Y.6
  • 41
    • 84868128463 scopus 로고    scopus 로고
    • Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X
    • Yao H, Zhang L, Zhang H, Jiang F, Hu H, Chen F, et al. Noninvasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat Diagn. 2012;32:1114-6.
    • (2012) Prenat Diagn. , vol.32 , pp. 1114-1116
    • Yao, H.1    Zhang, L.2    Zhang, H.3    Jiang, F.4    Hu, H.5    Chen, F.6
  • 42
    • 84905571246 scopus 로고    scopus 로고
    • Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results
    • Grati FR, Malvestiti F, Ferreira JC, Bajaj K, Gaetani E, Agrati C, et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med. 2014;16:620-4.
    • (2014) Genet Med. , vol.16 , pp. 620-624
    • Grati, F.R.1    Malvestiti, F.2    Ferreira, J.C.3    Bajaj, K.4    Gaetani, E.5    Agrati, C.6
  • 43
    • 84903819629 scopus 로고    scopus 로고
    • Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype
    • Srebniak MI, Diderich KE, Noomen P, Dijkman A, de Vries FA, van Opstal D. Abnormal non-invasive prenatal test results concordant with karyotype of cytotrophoblast but not reflecting abnormal fetal karyotype. Ultrasound Obstet Gynecol. 2014;44:109-11.
    • (2014) Ultrasound Obstet Gynecol. , vol.44 , pp. 109-111
    • Srebniak, M.I.1    Diderich, K.E.2    Noomen, P.3    Dijkman, A.4    Vries, F.A.5    Opstal, D.6
  • 44
    • 84905093469 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort
    • Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screening in a high-risk and low-risk cohort. Obstet Gynecol. 2014;124:210-8.
    • (2014) Obstet Gynecol. , vol.124 , pp. 210-218
    • Pergament, E.1    Cuckle, H.2    Zimmermann, B.3    Banjevic, M.4    Sigurjonsson, S.5    Ryan, A.6
  • 46
    • 84873257075 scopus 로고    scopus 로고
    • Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism
    • Choi H, Lau TK, Jiang FM, Chan MK, Zhang HY, Lo PS, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: 'false positive' due to confined placental mosaicism. Prenat Diagn. 2013;33:198-200.
    • (2013) Prenat Diagn. , vol.33 , pp. 198-200
    • Choi, H.1    Lau, T.K.2    Jiang, F.M.3    Chan, M.K.4    Zhang, H.Y.5    Lo, P.S.6
  • 47
    • 84878123682 scopus 로고    scopus 로고
    • Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue
    • Pan M, Li FT, Li Y, Jiang FM, Li DZ, Lau TK, et al. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn. 2013;33:598-601.
    • (2013) Prenat Diagn. , vol.33 , pp. 598-601
    • Pan, M.1    Li, F.T.2    Li, Y.3    Jiang, F.M.4    Li, D.Z.5    Lau, T.K.6
  • 48
    • 84897378007 scopus 로고    scopus 로고
    • Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy
    • Mao J, Wang T, Wang BJ, Liu YH, Li H, Zhang J, et al. Confined placental origin of the circulating cell free fetal DNA revealed by a discordant non-invasive prenatal test result in a trisomy 18 pregnancy. Clin Chim Acta. 2014;433:190-3.
    • (2014) Clin Chim Acta. , vol.433 , pp. 190-193
    • Mao, J.1    Wang, T.2    Wang, B.J.3    Liu, Y.H.4    Li, H.5    Zhang, J.6
  • 49
    • 84897509024 scopus 로고    scopus 로고
    • False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX,+18 placental mosaicism
    • Gao Y, Stejskal D, Jiang F, Wang W. False-negative trisomy 18 non-invasive prenatal test result due to 48, XXX,+18 placental mosaicism. Ultrasound Obstet Gynecol. 2014;43:477-8.
    • (2014) Ultrasound Obstet Gynecol. , vol.43 , pp. 477-478
    • Gao, Y.1    Stejskal, D.2    Jiang, F.3    Wang, W.4
  • 50
    • 84878159751 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
    • Osborne CM, Hardisty E, Devers P, Kaiser-Rogers K, Hayden MA, Goodnight W, et al. Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease. Prenat Diagn. 2013;33:609-11.
    • (2013) Prenat Diagn. , vol.33 , pp. 609-611
    • Osborne, C.M.1    Hardisty, E.2    Devers, P.3    Kaiser-Rogers, K.4    Hayden, M.A.5    Goodnight, W.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.