메뉴 건너뛰기




Volumn 37, Issue 6, 2017, Pages 593-601

The clinical utility of genome-wide non invasive prenatal screening

Author keywords

[No Author keywords available]

Indexed keywords

CELL DNA;

EID: 85018900935     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.5053     Document Type: Article
Times cited : (78)

References (36)
  • 1
    • 84878144362 scopus 로고    scopus 로고
    • Noninvasive prenatal testing: the paradigm is shifting rapidly
    • Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat Diagn 2013;33:511–513.
    • (2013) Prenat Diagn , vol.33 , pp. 511-513
    • Chitty, L.S.1    Bianchi, D.W.2
  • 2
    • 84928601078 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies
    • Zhang H, Gao Y, Jiang F, et al. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies. Ultrasound Obstet Gynecol 2015;45:530–538.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 530-538
    • Zhang, H.1    Gao, Y.2    Jiang, F.3
  • 3
    • 84907717938 scopus 로고    scopus 로고
    • Non-invasive prenatal chromosomal aneuploidy testing–clinical experience: 100,000 clinical samples
    • McCullough RM, Almasri EA, Guan X, et al. Non-invasive prenatal chromosomal aneuploidy testing–clinical experience: 100,000 clinical samples. PLoS One 2014;9:e109173.
    • (2014) PLoS One , vol.9
    • McCullough, R.M.1    Almasri, E.A.2    Guan, X.3
  • 4
    • 84960081693 scopus 로고    scopus 로고
    • Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases
    • Taneja PA, Snyder HL, de Feo E, et al. Noninvasive prenatal testing in the general obstetric population: clinical performance and counseling considerations in over 85 000 cases. Prenat Diagn 2016;36:237–243.
    • (2016) Prenat Diagn , vol.36 , pp. 237-243
    • Taneja, P.A.1    Snyder, H.L.2    de Feo, E.3
  • 5
    • 84924084092 scopus 로고    scopus 로고
    • Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis
    • Gil MM, Quezada MS, Revello R, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249–266.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 249-266
    • Gil, M.M.1    Quezada, M.S.2    Revello, R.3
  • 6
    • 84973335059 scopus 로고    scopus 로고
    • The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis
    • Mackie FL, Hemming K, Allen S, et al. The accuracy of cell-free fetal DNA-based non-invasive prenatal testing in singleton pregnancies: a systematic review and bivariate meta-analysis. BJOG 2017;124:32–46.
    • (2017) BJOG , vol.124 , pp. 32-46
    • Mackie, F.L.1    Hemming, K.2    Allen, S.3
  • 7
    • 84960158680 scopus 로고    scopus 로고
    • Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis
    • Taylor-Phillips S, Freeman K, Geppert J, et al. Accuracy of non-invasive prenatal testing using cell-free DNA for detection of Down, Edwards and Patau syndromes: a systematic review and meta-analysis. BMJ Open 2016;18:e010002.
    • (2016) BMJ Open , vol.18
    • Taylor-Phillips, S.1    Freeman, K.2    Geppert, J.3
  • 8
    • 84989907437 scopus 로고    scopus 로고
    • Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics
    • Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American College of Medical Genetics and Genomics. Genet Med 2016;18:1056–1065.
    • (2016) Genet Med , vol.18 , pp. 1056-1065
    • Gregg, A.R.1    Skotko, B.G.2    Benkendorf, J.L.3
  • 9
    • 84939629649 scopus 로고    scopus 로고
    • Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy
    • Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol 2015;126:e31–e37.
    • (2015) Obstet Gynecol , vol.126 , pp. e31-e37
  • 10
    • 84931028539 scopus 로고    scopus 로고
    • Society for Maternal–Fetal Medicine (SMFM) Publications Committee #36: Prenatal aneuploidy screening using cell-free DNA
    • Society for Maternal–Fetal Medicine (SMFM) Publications Committee #36: Prenatal aneuploidy screening using cell-free DNA. Am J Obstet Gynecol 2015;212:711–716.
    • (2015) Am J Obstet Gynecol , vol.212 , pp. 711-716
  • 11
    • 84938751857 scopus 로고    scopus 로고
    • Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis
    • Benn P, Borrell A, Chiu RW, et al. Position statement from the Chromosome Abnormality Screening Committee on behalf of the Board of the International Society for Prenatal Diagnosis. Prenat Diagn 2015;35:725–734.
    • (2015) Prenat Diagn , vol.35 , pp. 725-734
    • Benn, P.1    Borrell, A.2    Chiu, R.W.3
  • 12
    • 84944352609 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations
    • Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet 2015;23:1592.
    • (2015) Eur J Hum Genet , vol.23 , pp. 1592
    • Dondorp, W.1    de Wert, G.2    Bombard, Y.3
  • 13
    • 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
  • 14
    • 80955166920 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of a fetal microdeletion syndrome
    • Peters D, Chu T, Yatsenko SA, et al. Noninvasive prenatal diagnosis of a fetal microdeletion syndrome. N Engl J Med 2011;365:1847–1848.
    • (2011) N Engl J Med , vol.365 , pp. 1847-1848
    • Peters, D.1    Chu, T.2    Yatsenko, S.A.3
  • 15
    • 84863574483 scopus 로고    scopus 로고
    • Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma
    • Jensen TJ, Dzakula Z, Deciu C, et al. Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma. Clin Chem 2012;58:1148–1151.
    • (2012) Clin Chem , vol.58 , pp. 1148-1151
    • Jensen, T.J.1    Dzakula, Z.2    Deciu, C.3
  • 16
    • 84924766673 scopus 로고    scopus 로고
    • Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes
    • Wapner RJ, Babiarz JE, Levy B, et al. Expanding the scope of noninvasive prenatal testing: detection of fetal microdeletion syndromes. Am J Obstet Gynecol 2015;212:332.e1–332.e9.
    • (2015) Am J Obstet Gynecol , vol.212 , pp. 332.e1-332.e9
    • Wapner, R.J.1    Babiarz, J.E.2    Levy, B.3
  • 17
    • 84873711791 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosome abnormalities via deep sequencing of maternal plasma
    • Srinivasan A, Bianchi DW, Huang H, et al. 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
  • 18
    • 84876269433 scopus 로고    scopus 로고
    • Noninvasive prenatal molecular karyotyping from maternal plasma
    • Yu SC, Jiang P, Choy KW et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One 2013;8:e60968.
    • (2013) PLoS One , vol.8
    • Yu, S.C.1    Jiang, P.2    Choy, K.W.3
  • 19
    • 84878135436 scopus 로고    scopus 로고
    • A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
    • Chen S, Lau TK, Zhang C, et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn 2013;33:584–590.
    • (2013) Prenat Diagn , vol.33 , pp. 584-590
    • Chen, S.1    Lau, T.K.2    Zhang, C.3
  • 20
    • 84899014645 scopus 로고    scopus 로고
    • WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme
    • Straver R, Sistermans EA, Holstege H, et al. WISECONDOR: detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme. Nucleic Acids Res 2014;42:e31.
    • (2014) Nucleic Acids Res , vol.42
    • Straver, R.1    Sistermans, E.A.2    Holstege, H.3
  • 21
    • 84944161591 scopus 로고    scopus 로고
    • Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
    • Bayindir B, Dehaspe L, Brison N, et al. Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management. Eur J Hum Genet 2015;23:1286–1293.
    • (2015) Eur J Hum Genet , vol.23 , pp. 1286-1293
    • Bayindir, B.1    Dehaspe, L.2    Brison, N.3
  • 22
    • 84925707774 scopus 로고    scopus 로고
    • Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
    • Zhao C, Tynan J, Ehrich M, et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem 2015;61:608–616.
    • (2015) Clin Chem , vol.61 , pp. 608-616
    • Zhao, C.1    Tynan, J.2    Ehrich, M.3
  • 23
    • 84981231456 scopus 로고    scopus 로고
    • Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA
    • Yin AH, Peng CF, Zhao X, et al. Noninvasive detection of fetal subchromosomal abnormalities by semiconductor sequencing of maternal plasma DNA. Proc Natl Acad Sci U S A 2015;112:14670–14675.
    • (2015) Proc Natl Acad Sci U S A , vol.112 , pp. 14670-14675
    • Yin, A.H.1    Peng, C.F.2    Zhao, X.3
  • 24
    • 85011843544 scopus 로고    scopus 로고
    • Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases
    • Pescia G, Guex N, Iseli C, et al. Cell-free DNA testing of an extended range of chromosomal anomalies: clinical experience with 6,388 consecutive cases. Genet Med 2016. https://doi.org/10.1038/gim.2016.72.
    • (2016) Genet Med
    • Pescia, G.1    Guex, N.2    Iseli, C.3
  • 25
    • 84961857091 scopus 로고    scopus 로고
    • Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
    • Lefkowitz RB, Tynan JA, Liu T, et al. Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants. Am J Obstet Gynecol 2016;(215):227.e1–227.e16.
    • (2016) Am J Obstet Gynecol , Issue.215 , pp. 227.e1-227.e16
    • Lefkowitz, R.B.1    Tynan, J.A.2    Liu, T.3
  • 26
    • 84952951491 scopus 로고    scopus 로고
    • Copy-number variation and false positive results of prenatal screening
    • Snyder MW, Gammill HS, Shendure J. Copy-number variation and false positive results of prenatal screening. N Engl J Med 2015;373:2583–2585.
    • (2015) N Engl J Med , vol.373 , pp. 2583-2585
    • Snyder, M.W.1    Gammill, H.S.2    Shendure, J.3
  • 27
    • 84978140882 scopus 로고    scopus 로고
    • Copy-number variation and false positive prenatal screening results
    • Chudova DI, Sehnert AJ, Bianchi DW. Copy-number variation and false positive prenatal screening results. N Engl J Med 2016;375:97–98.
    • (2016) N Engl J Med , vol.375 , pp. 97-98
    • Chudova, D.I.1    Sehnert, A.J.2    Bianchi, D.W.3
  • 28
    • 84961799049 scopus 로고    scopus 로고
    • The importance of determining the limit of detection of non-invasive prenatal testing methods
    • Fiorentino F, Bono S, Pizzuti F, et al. The importance of determining the limit of detection of non-invasive prenatal testing methods. Prenat Diagn 2016;36:304–311.
    • (2016) Prenat Diagn , vol.36 , pp. 304-311
    • Fiorentino, F.1    Bono, S.2    Pizzuti, F.3
  • 29
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows–Wheeler transform
    • Li H, Durbin R. Fast and accurate short read alignment with Burrows–Wheeler transform. Bioinformatics 2009;25:1754–1760.
    • (2009) Bioinformatics , vol.25 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 30
    • 84948661923 scopus 로고    scopus 로고
    • Cell-free RNA is a reliable fetoplacental marker in noninvasive fetal sex determination
    • Mersy E, Faas BH, Spierts S, et al. Cell-free RNA is a reliable fetoplacental marker in noninvasive fetal sex determination. Clin Chem 2015;61:1515–1523.
    • (2015) Clin Chem , vol.61 , pp. 1515-1523
    • Mersy, E.1    Faas, B.H.2    Spierts, S.3
  • 31
    • 0001072895 scopus 로고
    • The use of confidence or fiducial limits illustrated in the case of the binomial
    • Clopper C, Pearson ES. The use of confidence or fiducial limits illustrated in the case of the binomial. Biometrika 1934;26:404–413.
    • (1934) Biometrika , vol.26 , pp. 404-413
    • Clopper, C.1    Pearson, E.S.2
  • 32
    • 0031740828 scopus 로고    scopus 로고
    • Confined placental mosaicism and intrauterine fetal growth
    • Lestou VS, Kalousek DK. Confined placental mosaicism and intrauterine fetal growth. Arch dis Child Fetal Neonatal Ed 1998;79:F223–F226.
    • (1998) Arch dis Child Fetal Neonatal Ed , vol.79 , pp. F223-F226
    • Lestou, V.S.1    Kalousek, D.K.2
  • 33
    • 33646777112 scopus 로고    scopus 로고
    • Confined placental mosaicism as a risk factor among newborns with fetal growth restriction
    • Wilkins-Haug L, Quade B, Morton CC. Confined placental mosaicism as a risk factor among newborns with fetal growth restriction. Prenat Diagn 2006;26:428–432.
    • (2006) Prenat Diagn , vol.26 , pp. 428-432
    • Wilkins-Haug, L.1    Quade, B.2    Morton, C.C.3
  • 34
    • 75149125794 scopus 로고    scopus 로고
    • Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction
    • Robinson WP, Peñaherrera MS, Jiang R, et al. Assessing the role of placental trisomy in preeclampsia and intrauterine growth restriction. Prenat Diagn 2010;30:1–8.
    • (2010) Prenat Diagn , vol.30 , pp. 1-8
    • Robinson, W.P.1    Peñaherrera, M.S.2    Jiang, R.3
  • 35
    • 0028290914 scopus 로고
    • Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey
    • Wolstenholme J, Rooney DE, Davison EV. Confined placental mosaicism, IUGR, and adverse pregnancy outcome: a controlled retrospective U.K. collaborative survey. Prenat Diagn 1994;14:345–361.
    • (1994) Prenat Diagn , vol.14 , pp. 345-361
    • Wolstenholme, J.1    Rooney, D.E.2    Davison, E.V.3
  • 36
    • 84922855669 scopus 로고    scopus 로고
    • Mosaicism and uniparental disomy in prenatal diagnosis
    • Eggermann T, Soellner L, Buiting K, et al. Mosaicism and uniparental disomy in prenatal diagnosis. Trends Mol Med 2015;21:77–87.
    • (2015) Trends Mol Med , vol.21 , pp. 77-87
    • Eggermann, T.1    Soellner, L.2    Buiting, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.