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Volumn 126, Issue 3, 2015, Pages e31-e37

Committee opinion no. 640: Cell-free DNA screening for fetal aneuploidy
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Author keywords

[No Author keywords available]

Indexed keywords

ALPHA FETOPROTEIN; DNA;

EID: 84939629649     PISSN: 00297844     EISSN: 1873233X     Source Type: Journal    
DOI: 10.1097/01.AOG.0000471172.63927.b6     Document Type: Review
Times cited : (214)

References (32)
  • 1
    • 84860213983 scopus 로고    scopus 로고
    • Genome-wide fetal aneuploidy detection by maternal plasma dna sequencing maternal blood is source to accurately diagnose fetal aneuploidy (melissa) study group [published erratum appears in obstet gynecol 2012; 120: 957
    • PubMed] [Obstetrics & Gynecology
    • Bianchi DW, Platt LD, Goldberg JD, Abuhamad AZ, Sehnert AJ, Rava RP. Genome-wide fetal aneuploidy detection by maternal plasma DNA sequencing. MatErnal BLood IS Source to Accurately diagnose fetal aneuploidy (MELISSA) Study Group [published erratum appears in Obstet Gynecol 2012; 120: 957]. Obstet Gynecol 2012; 119: 890-901. [PubMed] [Obstetrics & Gynecology
    • (2012) Obstet Gynecol , vol.119 , pp. 890-901
    • Bianchi, D.W.1    Platt, L.D.2    Goldberg, J.D.3    Abuhamad, A.Z.4    Sehnert, A.J.5    Rava, R.P.6
  • 4
    • 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
    • PubMed] [Full Text
    • 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.e1-137.e8. [PubMed] [Full Text
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 137e1-137e8
    • Norton, M.E.1    Brar, H.2    Weiss, J.3    Karimi, A.4    Laurent, L.C.5    Caughey, A.B.6
  • 5
    • 80755172331 scopus 로고    scopus 로고
    • Dna sequencing of maternal plasma to detect down syndrome: An interna-tional clinical validation study
    • PubMed
    • Palomaki GE, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, Ehrich M, et al. DNA sequencing of maternal plasma to detect Down syndrome: an interna-tional clinical validation study. Genet Med 2011; 13: 913-20. [PubMed
    • (2011) Genet Med , vol.13 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3    Haddow, J.E.4    Neveux, L.M.5    Ehrich, M.6
  • 6
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • PubMed] [Full Text
    • Sparks AB, Wang ET, Struble CA, Barrett W, Stokowski R, McBride C, et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012; 32: 3-9. [PubMed] [Full Text
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3    Barrett, W.4    Stokowski, R.5    McBride, C.6
  • 7
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13 18, 21, X, and Y, using targeted sequenc-ing of polymorphic loci
    • PubMed] [Full Text
    • Zimmermann B, Hill M, Gemelos G, Demko Z, Banjevic M, Baner J, et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequenc-ing of polymorphic loci. Prenat Diagn 2012; 32: 1233-41. [PubMed] [Full Text
    • (2012) Prenat Diagn , vol.32 , pp. 1233-1241
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3    Demko, Z.4    Banjevic, M.5    Baner, J.6
  • 8
    • 84896691791 scopus 로고    scopus 로고
    • DNA sequencing versus standard prenatal aneuploidy screening
    • CARE Study Group. PubMed] [Full Text
    • Bianchi DW, Parker RL, Wentworth J, Madankumar R, Saffer C, Das AF, et al. DNA sequencing versus standard prenatal aneuploidy screening. CARE Study Group. N Engl J Med 2014; 370: 799-808. [PubMed] [Full Text
    • (2014) N Engl J Med , vol.370 , pp. 799-808
    • Bianchi, D.W.1    Parker, R.L.2    Wentworth, J.3    Madankumar, R.4    Saffer, C.5    Das, A.F.6
  • 9
    • 84924084092 scopus 로고    scopus 로고
    • Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: Updated meta-analysis
    • PubMed] [Full Text
    • Gil MM, Quezada MS, Revello R, Akolekar R, Nicolaides KH. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015; 45: 249-66. [PubMed] [Full Text
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 249-266
    • Gil, M.M.1    Quezada, M.S.2    Revello, R.3    Akolekar, R.4    Nicolaides, K.H.5
  • 10
    • 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 paral-lel genomic sequencing of dna obstetrix collaborative research network
    • PubMed] [Full Text
    • 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 paral-lel genomic sequencing of DNA. Obstetrix Collaborative Research Network. Am J Obstet Gynecol 2014; 211: 365.e1-365.12. [PubMed] [Full Text
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 365e1-365e12
    • Porreco, R.P.1    Garite, T.J.2    Maurel, K.3    Marusiak, B.4    Ehrich, M.5    Van Den Boom, D.6
  • 11
    • 84908296065 scopus 로고    scopus 로고
    • Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prena-tal aneuploidy testing
    • PubMed] [Full Text
    • 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 noninvasive prena-tal aneuploidy testing. Am J Obstet Gynecol 2014; 211: 527.e1-527.e17. [PubMed] [Full Text
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 527e1-527e17
    • Dar, P.1    Curnow, K.J.2    Gross, S.J.3    Hall, M.P.4    Stosic, M.5    Demko, Z.6
  • 12
    • 84868029481 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population
    • PubMed] [Full Text
    • Nicolaides KH, 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.e1-374.e6. [PubMed] [Full Text
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 374e1-374e6
    • Nicolaides, K.H.1    Syngelaki, A.2    Ashoor, G.3    Birdir, C.4    Touzet, G.5
  • 13
    • 84857868297 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: An international collab-orative study
    • PubMed] [Full Text
    • 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 collab-orative study. Genet Med 2012; 14: 296-305.[PubMed] [Full Text
    • (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
  • 14
    • 84905093469 scopus 로고    scopus 로고
    • Single-nucleotide polymorphism-based noninvasive prenatal screen-ing in a high-risk and low-risk cohort
    • PubMed] [Obstetrics & Gynecology
    • Pergament E, Cuckle H, Zimmermann B, Banjevic M, Sigurjonsson S, Ryan A, et al. Single-nucleotide polymorphism-based noninvasive prenatal screen-ing in a high-risk and low-risk cohort. Obstet Gynecol 2014; 124: 210-8. [PubMed] [Obstetrics & Gynecology
    • (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
  • 15
    • 84859361254 scopus 로고    scopus 로고
    • Noninvasive prenatal detection and selective analysis of cell-free dna obtained from maternal blood: Evalua-tion for trisomy 21 and trisomy 18
    • PubMed] [Full Text
    • Sparks AB, Struble CA, Wang ET, Song K, Oliphant A. Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evalua-tion for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 319.e1-319.e9. [PubMed] [Full Text
    • (2012) Am J Obstet Gynecol , vol.206 , pp. 319e1-319e9
    • Sparks, A.B.1    Struble, C.A.2    Wang, E.T.3    Song, K.4    Oliphant, A.5
  • 16
    • 84928601078 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for trisomies 21 18 and 13: Clinical experience from 146 958 pregnancies
    • PubMed] [Full Text
    • Zhang H, Gao Y, Jiang F, Fu M, Yuan Y, Guo Y, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146 958 pregnancies. Ultrasound Obstet Gynecol 2015; 45: 530-8. [PubMed] [Full Text
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 530-538
    • Zhang, H.1    Gao, Y.2    Jiang, F.3    Fu, M.4    Yuan, Y.5    Guo, Y.6
  • 18
    • 84922478203 scopus 로고    scopus 로고
    • Fetal sex chromosome testing by mater-nal plasma DNA sequencing: Clinical laboratory experience and biology
    • PubMed] [Obstetrics & Gynecology
    • Bianchi DW, Parsa S, Bhatt S, Halks-Miller M, Kurtzman K, Sehnert AJ, et al. Fetal sex chromosome testing by mater-nal plasma DNA sequencing: clinical laboratory experience and biology. Obstet Gynecol 2015; 125: 375-82. [PubMed] [Obstetrics & Gynecology
    • (2015) Obstet Gynecol , vol.125 , pp. 375-382
    • Bianchi, D.W.1    Parsa, S.2    Bhatt, S.3    Halks-Miller, M.4    Kurtzman, K.5    Sehnert, A.J.6
  • 19
    • 84871536941 scopus 로고    scopus 로고
    • Fetal fraction in maternal plasma cell-free DNA at 11-13 week's gestation: Relation to maternal and fetal characteristics
    • PubMed] [Full Text
    • Ashoor G, Syngelaki A, Poon LC, Rezende JC, Nicolaides KH. Fetal fraction in maternal plasma cell-free DNA at 11-13 week's gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol 2013; 41: 26-32. [PubMed] [Full Text
    • (2013) Ultrasound Obstet Gynecol , vol.41 , pp. 26-32
    • Ashoor, G.1    Syngelaki, A.2    Poon, L.C.3    Rezende, J.C.4    Nicolaides, K.H.5
  • 20
    • 84927950867 scopus 로고    scopus 로고
    • The first 3,000 non-invasive prenatal tests (nipt) with the harmony test in belgium and the netherlands
    • PubMed] [Full Text
    • Willems PJ, Dierickx H, Vandenakker E, Bekedam D, Segers N, Deboulle K, et al. The first 3,000 Non-Invasive Prenatal Tests (NIPT) with the Harmony test in Belgium and the Netherlands. Facts Views Vis Obgyn 2014; 6: 7-12. [PubMed] [Full Text
    • (2014) Facts Views Vis Obgyn , vol.6 , pp. 7-12
    • Willems, P.J.1    Dierickx, H.2    Vandenakker, E.3    Bekedam, D.4    Segers, N.5    Deboulle, K.6
  • 21
    • 84874531862 scopus 로고    scopus 로고
    • Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experi-ence from a single center
    • PubMed
    • Alamillo CM, Krantz D, Evans M, Fiddler M, Pergament E. Nearly a third of abnormalities found after first-trimester screening are different than expected: 10-year experi-ence from a single center. Prenat Diagn 2013; 33: 251-6.[PubMed
    • (2013) Prenat Diagn , vol.33 , pp. 251-256
    • Alamillo, C.M.1    Krantz, D.2    Evans, M.3    Fiddler, M.4    Pergament, E.5
  • 22
    • 84877253478 scopus 로고    scopus 로고
    • ACMG statement on noninvasive prenatal screening for fetal aneuploidy
    • PubMed] [Full Text
    • Gregg AR, Gross SJ, Best RG, Monaghan KG, Bajaj K, Skotko BG, et al. ACMG statement on noninvasive prenatal screening for fetal aneuploidy. Genet Med 2013; 15: 395-8. [PubMed] [Full Text
    • (2013) Genet Med , vol.15 , pp. 395-398
    • Gregg, A.R.1    Gross, S.J.2    Best, R.G.3    Monaghan, K.G.4    Bajaj, K.5    Skotko, B.G.6
  • 23
    • 84925581764 scopus 로고    scopus 로고
    • Chrom-osome abnormalities detected by current prenatal screen-ing and noninvasive prenatal testing
    • PubMed] [Obstetrics & Gynecology
    • Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chrom-osome abnormalities detected by current prenatal screen-ing and noninvasive prenatal testing. Obstet Gynecol 2014; 124: 979-86. [PubMed] [Obstetrics & Gynecology
    • (2014) Obstet Gynecol , vol.124 , pp. 979-986
    • Norton, M.E.1    Jelliffe-Pawlowski, L.L.2    Currier, R.J.3
  • 24
    • 84873711791 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
    • PubMed] [Full Text
    • 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: 167-76. [PubMed] [Full Text
    • (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
  • 25
    • 84924766673 scopus 로고    scopus 로고
    • Expanding the scope of nonin-vasive prenatal testing: Detection of fetal microdeletion syndromes
    • PubMed] [Full Text
    • Wapner RJ, Babiarz JE, Levy B, Stosic M, Zimmermann B, Sigurjonsson S, et al. Expanding the scope of nonin-vasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015; 212: 332.e1-332.e9. [PubMed] [Full Text
    • (2015) Am J Obstet Gynecol , vol.212 , pp. 332e1-332e9
    • Wapner, R.J.1    Babiarz, J.E.2    Levy, B.3    Stosic, M.4    Zimmermann, B.5    Sigurjonsson, S.6
  • 26
    • 84864297424 scopus 로고    scopus 로고
    • Dna sequencing of maternal plasma to identify down syndrome and other tri-somies in multiple gestations
    • PubMed] [Full Text
    • Canick JA, Kloza EM, Lambert-Messerlian GM, Haddow JE, Ehrich M, van Den Boom D, et al. DNA sequencing of maternal plasma to identify Down syndrome and other tri-somies in multiple gestations. Prenat Diagn 2012; 32: 730-4. [PubMed] [Full Text
    • (2012) Prenat Diagn , vol.32 , pp. 730-734
    • Canick, J.A.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3    Haddow, J.E.4    Ehrich, M.5    Van Den Boom, D.6
  • 27
    • 84898059528 scopus 로고    scopus 로고
    • Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies
    • PubMed] [Full Text
    • Huang X, Zheng J, Chen M, Zhao Y, Zhang C, Liu L, et al.Noninvasive prenatal testing of trisomies 21 and 18 by massively parallel sequencing of maternal plasma DNA in twin pregnancies. Prenat Diagn 2014; 34: 335-40. [PubMed] [Full Text
    • (2014) Prenat Diagn , vol.34 , pp. 335-340
    • Huang, X.1    Zheng, J.2    Chen, M.3    Zhao, Y.4    Zhang, C.5    Liu, L.6
  • 28
    • 84919424427 scopus 로고    scopus 로고
    • Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test
    • PubMed] [Full Text
    • Curnow KJ, Wilkins-Haug L, Ryan A, Kirkizlar E, Stosic M, Hall MP, et al. Detection of triploid, molar, and vanishing twin pregnancies by a single-nucleotide polymorphism-based noninvasive prenatal test. Am J Obstet Gynecol 2015; 212: 79.e1-79.e9. [PubMed] [Full Text
    • (2015) Am J Obstet Gynecol , vol.212 , pp. 79e1-79e9
    • Curnow, K.J.1    Wilkins-Haug, L.2    Ryan, A.3    Kirkizlar, E.4    Stosic, M.5    Hall, M.P.6
  • 29
    • 84905571246 scopus 로고    scopus 로고
    • Fetoplacental mosaicism: Potential implications for false-positive and false-negative noninvasive prenatal screening results
    • PubMed] [Full Text
    • 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. [PubMed] [Full Text
    • (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
  • 30
    • 84879495377 scopus 로고    scopus 로고
    • Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
    • PubMed] [Full Text
    • Hall AL, Drendel HM, Verbrugge JL, Reese AM, Schumacher KL, Griffith CB, et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013; 15: 729-32. [PubMed] [Full Text
    • (2013) Genet Med , vol.15 , pp. 729-732
    • Hall, A.L.1    Drendel, H.M.2    Verbrugge, J.L.3    Reese, A.M.4    Schumacher, K.L.5    Griffith, C.B.6
  • 31
    • 84878159751 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
    • PubMed] [Full Text
    • 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. [PubMed] [Full Text
    • (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
  • 32
    • 84878159751 scopus 로고    scopus 로고
    • Discordant noninvasive prenatal testing results in a patient subsequently diagnosed with metastatic disease
    • PubMed] [Full Text
    • 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. [PubMed] [Full Text
    • (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


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