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Volumn 90, Issue 6, 2016, Pages 477-485

Expanding non-invasive prenatal testing beyond chromosomes 21, 18, 13, X and Y

Author keywords

aneuploidy; cell free DNA; DNA copy number variations; microdeletions; non invasive testing; prenatal screening

Indexed keywords

DNA;

EID: 84978997781     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12818     Document Type: Review
Times cited : (50)

References (77)
  • 1
    • 84928492866 scopus 로고    scopus 로고
    • Cell-free DNA screening for fetal aneuploidy as a clinical service
    • Cuckle H, Benn P, Pergament E. Cell-free DNA screening for fetal aneuploidy as a clinical service. Clin Biochem 2015: 48: 932–941.
    • (2015) Clin Biochem , vol.48 , pp. 932-941
    • Cuckle, H.1    Benn, P.2    Pergament, E.3
  • 2
    • 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, 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: 249–266.
    • (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
  • 3
    • 84926492837 scopus 로고    scopus 로고
    • Cell-free DNA analysis for noninvasive examination of trisomy
    • Norton ME, Jacobsson B, Swamy GK et al. Cell-free DNA analysis for noninvasive examination of trisomy. N Engl J Med 2015: 372: 1589–1597.
    • (2015) N Engl J Med , vol.372 , pp. 1589-1597
    • Norton, M.E.1    Jacobsson, B.2    Swamy, G.K.3
  • 4
    • 84908296065 scopus 로고    scopus 로고
    • Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing
    • Dar P, Curnow KJ, Gross SJ et al. Clinical experience and follow-up with large scale single-nucleotide polymorphism-based noninvasive prenatal aneuploidy testing. Am J Obstet Gynecol 2014: 211: 527 e521–527 e517.
    • (2014) Am J Obstet Gynecol , vol.211 , pp. 527 e521-527 e517
    • Dar, P.1    Curnow, K.J.2    Gross, S.J.3
  • 5
    • 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
  • 6
    • 84880039886 scopus 로고    scopus 로고
    • A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood
    • Guex N, Iseli C, Syngelaki A et al. A robust second-generation genome-wide test for fetal aneuploidy based on shotgun sequencing cell-free DNA in maternal blood. Prenat Diagn 2013: 33: 707–710.
    • (2013) Prenat Diagn , vol.33 , pp. 707-710
    • Guex, N.1    Iseli, C.2    Syngelaki, A.3
  • 7
    • 84956650516 scopus 로고    scopus 로고
    • Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications?
    • Rose NC, Benn P, Milunsky A. Current controversies in prenatal diagnosis 1: should NIPT routinely include microdeletions/microduplications? Prenat Diagn 2016: 36: 10–14.
    • (2016) Prenat Diagn , vol.36 , pp. 10-14
    • Rose, N.C.1    Benn, P.2    Milunsky, A.3
  • 8
    • 84957705240 scopus 로고    scopus 로고
    • Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening
    • Hui L. Cell-free DNA testing for 22q11.2 deletion syndrome: appraising the viability, effectiveness and appropriateness of screening. Ultrasound Obstet Gynecol 2016: 47: 137–141.
    • (2016) Ultrasound Obstet Gynecol , vol.47 , pp. 137-141
    • Hui, L.1
  • 9
    • 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: 16266–16271.
    • (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
  • 10
    • 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
  • 11
    • 84905233420 scopus 로고    scopus 로고
    • Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma
    • Benn P, Cuckle H. Theoretical performance of non-invasive prenatal testing for chromosome imbalances using counting of cell-free DNA fragments in maternal plasma. Prenat Diagn 2014: 34: 778–783.
    • (2014) Prenat Diagn , vol.34 , pp. 778-783
    • Benn, P.1    Cuckle, H.2
  • 12
    • 77955255742 scopus 로고    scopus 로고
    • Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics
    • Fan HC, Quake SR. Sensitivity of noninvasive prenatal detection of fetal aneuploidy from maternal plasma using shotgun sequencing is limited only by counting statistics. PLoS One 2010: 5: e10439.
    • (2010) PLoS One , vol.5
    • Fan, H.C.1    Quake, S.R.2
  • 13
    • 84898825126 scopus 로고    scopus 로고
    • High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm
    • Chu T, Yeniterzi S, Rajkovic A et al. High resolution non-invasive detection of a fetal microdeletion using the GCREM algorithm. Prenat Diagn 2014: 34: 469–477.
    • (2014) Prenat Diagn , vol.34 , pp. 469-477
    • Chu, T.1    Yeniterzi, S.2    Rajkovic, A.3
  • 14
    • 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
  • 15
    • 84954285965 scopus 로고    scopus 로고
    • Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities
    • Lo KK, Karampetsou E, Boustred C et al. Limited clinical utility of non-invasive prenatal testing for subchromosomal abnormalities. Am J Hum Genet 2016: 98: 34–44.
    • (2016) Am J Hum Genet , vol.98 , pp. 34-44
    • Lo, K.K.1    Karampetsou, E.2    Boustred, C.3
  • 16
    • 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
  • 17
    • 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, Visser A, Oudejans CB, Reinders MJ. 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    Visser, A.4    Oudejans, C.B.5    Reinders, M.J.6
  • 18
    • 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
  • 19
    • 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
  • 20
    • 84902515837 scopus 로고    scopus 로고
    • Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing
    • Rampasek L, Arbabi A, Brudno M. Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics 2014: 30: i212–i218.
    • (2014) Bioinformatics , vol.30 , pp. i212-i218
    • Rampasek, L.1    Arbabi, A.2    Brudno, M.3
  • 21
    • 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
  • 22
    • 84953374210 scopus 로고    scopus 로고
    • Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies
    • Li R, Wan J, Zhang Y et al. Detection of fetal copy number variants by non-invasive prenatal testing for common aneuploidies. Ultrasound Obstet Gynecol 2016: 47: 53–57.
    • (2016) Ultrasound Obstet Gynecol , vol.47 , pp. 53-57
    • Li, R.1    Wan, J.2    Zhang, Y.3
  • 23
    • 84937712692 scopus 로고    scopus 로고
    • Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up
    • Yatsenko SA, Peters DG, Saller DN, Chu T, Clemens M, Rajkovic A. Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up. Genet Med 2015: 17: 836–838.
    • (2015) Genet Med , vol.17 , pp. 836-838
    • Yatsenko, S.A.1    Peters, D.G.2    Saller, D.N.3    Chu, T.4    Clemens, M.5    Rajkovic, A.6
  • 24
    • 84857502701 scopus 로고    scopus 로고
    • Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy
    • Sparks AB, Wang ET, Struble CA et al. Selective analysis of cell-free DNA in maternal blood for evaluation of fetal trisomy. Prenat Diagn 2012: 32: 3–9.
    • (2012) Prenat Diagn , vol.32 , pp. 3-9
    • Sparks, A.B.1    Wang, E.T.2    Struble, C.A.3
  • 25
    • 84919475041 scopus 로고    scopus 로고
    • Microarray-based cell-free DNA analysis improves noninvasive prenatal testing
    • Juneau K, Bogard PE, Huang S et al. Microarray-based cell-free DNA analysis improves noninvasive prenatal testing. Fetal Diagn Ther 2014: 36: 282–286.
    • (2014) Fetal Diagn Ther , vol.36 , pp. 282-286
    • Juneau, K.1    Bogard, P.E.2    Huang, S.3
  • 26
    • 84870695892 scopus 로고    scopus 로고
    • Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci
    • Zimmermann B, Hill M, Gemelos G et al. Noninvasive prenatal aneuploidy testing of chromosomes 13, 18, 21, X, and Y, using targeted sequencing of polymorphic loci. Prenat Diagn 2012: 32: 1233–1241.
    • (2012) Prenat Diagn , vol.32 , pp. 1233-1241
    • Zimmermann, B.1    Hill, M.2    Gemelos, G.3
  • 27
    • 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. American journal of obstetrics and gynecology 2015: 212: e331–e339.
    • (2015) American journal of obstetrics and gynecology , vol.212 , pp. e331-e339
    • Wapner, R.J.1    Babiarz, J.E.2    Levy, B.3
  • 28
    • 84976875368 scopus 로고    scopus 로고
    • Prenatal diagnosis of chromosomal abnormalities through chorionic villus sampling and amniocentesis
    • In, Milunsky A, Milunsky JM, eds., Hoboken, NJ, John Wiley & Sons, Inc
    • Benn P. Prenatal diagnosis of chromosomal abnormalities through chorionic villus sampling and amniocentesis. In: Milunsky A, Milunsky JM, eds. Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment. Hoboken, NJ: John Wiley & Sons, Inc., 2016: 178–266.
    • (2016) Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment , pp. 178-266
    • Benn, P.1
  • 29
    • 34248544965 scopus 로고    scopus 로고
    • Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics
    • Liehr T, Weise A. Frequency of small supernumerary marker chromosomes in prenatal, newborn, developmentally retarded and infertility diagnostics. Int J Mol Med 2007: 19: 719–731.
    • (2007) Int J Mol Med , vol.19 , pp. 719-731
    • Liehr, T.1    Weise, A.2
  • 30
    • 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
  • 31
    • 0021229263 scopus 로고
    • Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses
    • Ferguson-Smith MA, Yates JR. Maternal age specific rates for chromosome aberrations and factors influencing them: report of a collaborative european study on 52 965 amniocenteses. Prenat Diagn 1984: 4: 5–44.
    • (1984) Prenat Diagn , vol.4 , pp. 5-44
    • Ferguson-Smith, M.A.1    Yates, J.R.2
  • 32
    • 67649223454 scopus 로고    scopus 로고
    • Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses
    • Forabosco A, Percesepe A, Santucci S. Incidence of non-age-dependent chromosomal abnormalities: a population-based study on 88965 amniocenteses. Eur J Hum Genet 2009: 17: 897–903.
    • (2009) Eur J Hum Genet , vol.17 , pp. 897-903
    • Forabosco, A.1    Percesepe, A.2    Santucci, S.3
  • 33
    • 0042832501 scopus 로고    scopus 로고
    • Prenatal detection of rare chromosomal autosomal abnormalities in Europe
    • Baena N, De Vigan C, Cariati E et al. Prenatal detection of rare chromosomal autosomal abnormalities in Europe. Am J Med Genet A 2003: 118A: 319–327.
    • (2003) Am J Med Genet A , vol.118 , pp. 319-327
    • Baena, N.1    De Vigan, C.2    Cariati, E.3
  • 34
    • 0026682553 scopus 로고
    • Cytogenetic results from the U.S. Collaborative Study on CVS
    • Ledbetter DH, Zachary JM, Simpson JL et al. Cytogenetic results from the U.S. Collaborative Study on CVS. Prenat Diagn 1992: 12: 317–345.
    • (1992) Prenat Diagn , vol.12 , pp. 317-345
    • Ledbetter, D.H.1    Zachary, J.M.2    Simpson, J.L.3
  • 35
    • 0028244914 scopus 로고
    • Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data
    • Association of Clinical Cytogeneticists Working Party on Chorionic Villi in Prenatal Diagnosis. Cytogenetic analysis of chorionic villi for prenatal diagnosis: an ACC collaborative study of U.K. data. Prenat Diagn 1994: 14: 363–379.
    • (1994) Prenat Diagn , vol.14 , pp. 363-379
  • 36
    • 84945469308 scopus 로고    scopus 로고
    • Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis
    • Malvestiti F, Agrati C, Grimi B et al. Interpreting mosaicism in chorionic villi: results of a monocentric series of 1001 mosaics in chorionic villi with follow-up amniocentesis. Prenat Diagn 2015: 35: 1117–1127.
    • (2015) Prenat Diagn , vol.35 , pp. 1117-1127
    • Malvestiti, F.1    Agrati, C.2    Grimi, B.3
  • 37
    • 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 et al. Fetoplacental mosaicism: potential implications for false-positive and false-negative noninvasive prenatal screening results. Genet Med 2014: 16: 620–624.
    • (2014) Genet Med , vol.16 , pp. 620-624
    • Grati, F.R.1    Malvestiti, F.2    Ferreira, J.C.3
  • 38
    • 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: 2585.
    • (2015) N Engl J Med , vol.373 , pp. 2585
    • Snyder, M.W.1    Gammill, H.S.2    Shendure, J.3
  • 39
    • 84959419096 scopus 로고    scopus 로고
    • Incidental detection of familial APP duplication: an unusual reason for a false positive NIPT result of trisomy 21
    • Meschino WS, Miller K, Bedford HM. Incidental detection of familial APP duplication: an unusual reason for a false positive NIPT result of trisomy 21. Prenat Diagn 2016: 36: 382–384.
    • (2016) Prenat Diagn , vol.36 , pp. 382-384
    • Meschino, W.S.1    Miller, K.2    Bedford, H.M.3
  • 40
    • 84959871295 scopus 로고    scopus 로고
    • Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling
    • Snyder HL, Curnow KJ, Bhatt S, Bianchi DW. Follow-up of multiple aneuploidies and single monosomies detected by noninvasive prenatal testing: implications for management and counseling. Prenat Diagn 2016: 36: 203–209.
    • (2016) Prenat Diagn , vol.36 , pp. 203-209
    • Snyder, H.L.1    Curnow, K.J.2    Bhatt, S.3    Bianchi, D.W.4
  • 41
    • 84943394447 scopus 로고    scopus 로고
    • Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing
    • Amant F, Verheecke M, Wlodarska I et al. Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. JAMA Oncol 2015: 1: 814–819.
    • (2015) JAMA Oncol , vol.1 , pp. 814-819
    • Amant, F.1    Verheecke, M.2    Wlodarska, I.3
  • 42
    • 84937459187 scopus 로고    scopus 로고
    • Noninvasive prenatal testing and incidental detection of occult maternal malignancies
    • Bianchi DW, Chudova D, Sehnert AJ et al. Noninvasive prenatal testing and incidental detection of occult maternal malignancies. JAMA 2015: 314: 162–169.
    • (2015) JAMA , vol.314 , pp. 162-169
    • Bianchi, D.W.1    Chudova, D.2    Sehnert, A.J.3
  • 43
    • 84924082243 scopus 로고    scopus 로고
    • Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins
    • Gromminger S, Yagmur E, Erkan S et al. Fetal aneuploidy detection by cell-free DNA sequencing for multiple pregnancies and quality issues with vanishing twins. J Clin Med 2014: 3: 679–692.
    • (2014) J Clin Med , vol.3 , pp. 679-692
    • Gromminger, S.1    Yagmur, E.2    Erkan, S.3
  • 44
    • 84870549609 scopus 로고    scopus 로고
    • Chromosomal microarray versus karyotyping for prenatal diagnosis
    • Wapner RJ, Martin CL, Levy B et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med 2012: 367: 2175–2184.
    • (2012) N Engl J Med , vol.367 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 45
    • 84938570204 scopus 로고    scopus 로고
    • Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies
    • Grati FR, Molina Gomes D, Ferreira JC et al. Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies. Prenat Diagn 2015: 35: 801–809.
    • (2015) Prenat Diagn , vol.35 , pp. 801-809
    • Grati, F.R.1    Molina Gomes, D.2    Ferreira, J.C.3
  • 46
    • 84884706978 scopus 로고
    • 22q11.2 deletion syndrome
    • In, Pagon RA, Adam MP, Ardinger HH, eds., Seattle, WA, University of Washington
    • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al., eds. GeneReviews. Seattle, WA: University of Washington, 1993.
    • (1993) GeneReviews
    • McDonald-McGinn, D.M.1    Emanuel, B.S.2    Zackai, E.H.3
  • 48
    • 84877601474 scopus 로고    scopus 로고
    • Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing
    • Liang D, Lv W, Wang H et al. Non-invasive prenatal testing of fetal whole chromosome aneuploidy by massively parallel sequencing. Prenat Diagn 2013: 33: 409–415.
    • (2013) Prenat Diagn , vol.33 , pp. 409-415
    • Liang, D.1    Lv, W.2    Wang, H.3
  • 49
    • 79959759113 scopus 로고    scopus 로고
    • Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood
    • Sehnert AJ, Rhees B, Comstock D et al. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011: 57: 1042–1049.
    • (2011) Clin Chem , vol.57 , pp. 1042-1049
    • Sehnert, A.J.1    Rhees, B.2    Comstock, D.3
  • 51
    • 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
  • 52
    • 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, van den Boom D, Ehrich M. 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    van den Boom, D.4    Ehrich, M.5
  • 53
    • 84961857091 scopus 로고    scopus 로고
    • Clinical validation of a noninvasive prenatal test for genomewide detection of fetal copy number variants
    • Feb 17. [Epub ahead of print]
    • 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 Feb 17. pii: S0002-9378(16)00318-5. doi: 10.1016/j.ajog.2016.02.030. [Epub ahead of print].
    • (2016) Am J Obstet Gynecol
    • Lefkowitz, R.B.1    Tynan, J.A.2    Liu, T.3
  • 54
    • 84937968977 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value
    • Gross SJ, Ryan A, Benn P. Noninvasive prenatal testing for 22q11.2 deletion syndrome: deeper sequencing increases the positive predictive value. Am J Obstet Gynecol 2015: 213: 254–255.
    • (2015) Am J Obstet Gynecol , vol.213 , pp. 254-255
    • Gross, S.J.1    Ryan, A.2    Benn, P.3
  • 55
    • 84959267420 scopus 로고    scopus 로고
    • Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern?
    • Sahoo T, Hovanes K, Strecker MN, Dzidic N, Commander S, Travis MK. Expanding noninvasive prenatal testing to include microdeletions and segmental aneuploidy: cause for concern? Genet Med 2016: 18: 275–276.
    • (2016) Genet Med , vol.18 , pp. 275-276
    • Sahoo, T.1    Hovanes, K.2    Strecker, M.N.3    Dzidic, N.4    Commander, S.5    Travis, M.K.6
  • 56
    • 84943267089 scopus 로고    scopus 로고
    • Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing
    • Helgeson J, Wardrop J, Boomer T et al. Clinical outcome of subchromosomal events detected by whole-genome noninvasive prenatal testing. Prenat Diagn 2015: 35: 999–1004.
    • (2015) Prenat Diagn , vol.35 , pp. 999-1004
    • Helgeson, J.1    Wardrop, J.2    Boomer, T.3
  • 57
    • 84957441683 scopus 로고    scopus 로고
    • Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome
    • Gross SJ, Stosic M, McDonald-McGinn DM et al. Clinical experience with single-nucleotide polymorphism-based non-invasive prenatal screening for 22q11.2 deletion syndrome. Ultrasound Obstet Gynecol 2016: 47: 177–183.
    • (2016) Ultrasound Obstet Gynecol , vol.47 , pp. 177-183
    • Gross, S.J.1    Stosic, M.2    McDonald-McGinn, D.M.3
  • 59
    • 84878129532 scopus 로고    scopus 로고
    • Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service
    • Lau TK, Jiang FM, Stevenson RJ et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn 2013: 33: 602–608.
    • (2013) Prenat Diagn , vol.33 , pp. 602-608
    • Lau, T.K.1    Jiang, F.M.2    Stevenson, R.J.3
  • 60
    • 84933520738 scopus 로고    scopus 로고
    • Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis
    • Ma J, Cram DS, Zhang J, Shang L, Yang H, Pan H. Birth of a child with trisomy 9 mosaicism syndrome associated with paternal isodisomy 9: case of a positive noninvasive prenatal test result unconfirmed by invasive prenatal diagnosis. Mol Cytogenet 2015: 8: 44.
    • (2015) Mol Cytogenet , vol.8 , pp. 44
    • Ma, J.1    Cram, D.S.2    Zhang, J.3    Shang, L.4    Yang, H.5    Pan, H.6
  • 61
    • 84954133108 scopus 로고    scopus 로고
    • Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing
    • Wang T, Duan C, Shen C et al. Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing. Mol Cytogenet 2016: 9: 3.
    • (2016) Mol Cytogenet , vol.9 , pp. 3
    • Wang, T.1    Duan, C.2    Shen, C.3
  • 62
    • 84976864016 scopus 로고    scopus 로고
    • Prenatal diagnosis of sex chromosome abnormalities
    • In, Milunsky A, Milunsky JM, eds., Hoboken, NJ, John Wiley & Sons, Inc
    • Milunsky JM. Prenatal diagnosis of sex chromosome abnormalities. In: Milunsky A, Milunsky JM, eds. Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment. Hoboken, NJ: John Wiley & Sons, Inc., 2016: 267–312.
    • (2016) Genetic Disorders and the Fetus : Diagnosis, Prevention, and Treatment , pp. 267-312
    • Milunsky, J.M.1
  • 63
    • 84960420622 scopus 로고    scopus 로고
    • Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma
    • Benn P. Posttest risk calculation following positive noninvasive prenatal screening using cell-free DNA in maternal plasma. Am J Obstet Gynecol 2016: 214: 676e1-7.
    • (2016) Am J Obstet Gynecol , vol.214 , pp. 676
    • Benn, P.1
  • 64
    • 84963894106 scopus 로고    scopus 로고
    • Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts
    • Sullivan KE, Burrows E, McDonald McGinn DM. Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts. Am J Med Genet A 2016: 170: 1630–1634.
    • (2016) Am J Med Genet A , vol.170 , pp. 1630-1634
    • Sullivan, K.E.1    Burrows, E.2    McDonald McGinn, D.M.3
  • 65
    • 84942785233 scopus 로고    scopus 로고
    • Prenatal testing in the genomic age: clinical outcomes, quality of life, and costs
    • Kaimal AJ, Norton ME, Kuppermann M. Prenatal testing in the genomic age: clinical outcomes, quality of life, and costs. Obstet Gynecol 2015: 126: 737–746.
    • (2015) Obstet Gynecol , vol.126 , pp. 737-746
    • Kaimal, A.J.1    Norton, M.E.2    Kuppermann, M.3
  • 66
    • 84939629649 scopus 로고    scopus 로고
    • 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
  • 67
    • 84944352609 scopus 로고    scopus 로고
    • Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening
    • Dondorp W, de Wert G, Bombard Y et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Eur J Hum Genet 2015: 23: 1438–1450.
    • (2015) Eur J Hum Genet , vol.23 , pp. 1438-1450
    • Dondorp, W.1    de Wert, G.2    Bombard, Y.3
  • 68
    • 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
  • 69
    • 84925581764 scopus 로고    scopus 로고
    • Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing
    • Norton ME, Jelliffe-Pawlowski LL, Currier RJ. Chromosome abnormalities detected by current prenatal screening and noninvasive prenatal testing. Obstet Gynecol 2014: 124: 979–986.
    • (2014) Obstet Gynecol , vol.124 , pp. 979-986
    • Norton, M.E.1    Jelliffe-Pawlowski, L.L.2    Currier, R.J.3
  • 70
    • 69549083158 scopus 로고    scopus 로고
    • Evaluating the utility of personal genomic information
    • Foster MW, Mulvihill JJ, Sharp RR. Evaluating the utility of personal genomic information. Genet Med 2009: 11: 570–574.
    • (2009) Genet Med , vol.11 , pp. 570-574
    • Foster, M.W.1    Mulvihill, J.J.2    Sharp, R.R.3
  • 71
    • 0023900007 scopus 로고
    • Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis
    • Hook EB, Cross PK, Jackson L, Pergament E, Brambati B. Maternal age-specific rates of 47,+21 and other cytogenetic abnormalities diagnosed in the first trimester of pregnancy in chorionic villus biopsy specimens: comparison with rates expected from observations at amniocentesis. Am J Hum Genet 1988: 42: 797–807.
    • (1988) Am J Hum Genet , vol.42 , pp. 797-807
    • Hook, E.B.1    Cross, P.K.2    Jackson, L.3    Pergament, E.4    Brambati, B.5
  • 72
    • 0024722803 scopus 로고
    • Maternal age-specific rates of chromosome abnormalities at chorionic villus study: a revision
    • Hook EB, Cross PK. Maternal age-specific rates of chromosome abnormalities at chorionic villus study: a revision. Am J Hum Genet 1989: 45: 474–477.
    • (1989) Am J Hum Genet , vol.45 , pp. 474-477
    • Hook, E.B.1    Cross, P.K.2
  • 73
    • 0024385512 scopus 로고
    • Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies
    • Leschot NJ, Wolf H, Van Prooijen-Knegt AC et al. Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies. Br J Obstet Gynaecol 1989: 96: 663–670.
    • (1989) Br J Obstet Gynaecol , vol.96 , pp. 663-670
    • Leschot, N.J.1    Wolf, H.2    Van Prooijen-Knegt, A.C.3
  • 74
    • 0026450991 scopus 로고
    • Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age
    • Kratzer PG, Golbus MS, Schonberg SA, Heilbron DC, Taylor RN. Cytogenetic evidence for enhanced selective miscarriage of trisomy 21 pregnancies with advancing maternal age. Am J Med Genet 1992: 44: 657–663.
    • (1992) Am J Med Genet , vol.44 , pp. 657-663
    • Kratzer, P.G.1    Golbus, M.S.2    Schonberg, S.A.3    Heilbron, D.C.4    Taylor, R.N.5
  • 75
    • 0027936511 scopus 로고
    • Maternal age-specific risks for trisomies at 9–14 weeks' gestation
    • Snijders RJ, Holzgreve W, Cuckle H, Nicolaides KH. Maternal age-specific risks for trisomies at 9–14 weeks' gestation. Prenat Diagn 1994: 14: 543–552.
    • (1994) Prenat Diagn , vol.14 , pp. 543-552
    • Snijders, R.J.1    Holzgreve, W.2    Cuckle, H.3    Nicolaides, K.H.4
  • 76
    • 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 USA 2015: 112: 14670–14675.
    • (2015) Proc Natl Acad Sci USA , vol.112 , pp. 14670-14675
    • Yin, A.H.1    Peng, C.F.2    Zhao, X.3
  • 77
    • 84874616358 scopus 로고    scopus 로고
    • High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
    • Jensen TJ, Zwiefelhofer T, Tim RC et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One 2013: 8: e57381.
    • (2013) PLoS One , vol.8
    • Jensen, T.J.1    Zwiefelhofer, T.2    Tim, R.C.3


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