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Volumn 20, Issue 5, 2018, Pages 480-485

Origin and clinical relevance of chromosomal aberrations other than the common trisomies detected by genome-wide NIPS: Results of the TRIDENT study

(26)  Van Opstal, Diane a   Van Maarle, Merel C b   Lichtenbelt, Klaske c   Weiss, Marjan M d   Schuring Blom, Heleen c   Bhola, Shama L d   Hoffer, Mariette J V e   Amsterdam, Karin Huijsdens Van b   Macville, Merryn V f   Kooper, Angelique J A g   Faas, Brigitte H W g   Govaerts, Lutgarde a   Tan Sindhunata, Gita M d   Den Hollander, Nicolette e   Feenstra, Ilse g   Galjaard, Robert Jan H a   Oepkes, Dick e   Ghesquiere, Stijn f   Brouwer, Rutger W W a   Beulen, Lean g   more..


Author keywords

confined placental mosaicism; genome wide NIPS; noninvasive testing; prenatal screening; trisomy 21

Indexed keywords

ARTICLE; AUTOSOME; CHROMOSOME ABERRATION; CHROMOSOME ANALYSIS; CLINICAL OUTCOME; COHORT ANALYSIS; CONGENITAL MALFORMATION; DISEASE SEVERITY; FEMALE; FETUS DISEASE; FETUS GROWTH; FOLLOW UP; GENOME-WIDE ASSOCIATION STUDY; GESTATIONAL AGE; HIGH RISK PREGNANCY; HUMAN; MAJOR CLINICAL STUDY; MATERNAL DISEASE; NON INVASIVE PROCEDURE; PLACENTA DISORDER; PREGNANCY OUTCOME; PRENATAL SCREENING; TRISOMY; TRISOMY 13; TRISOMY 18; TRISOMY 21; TRISOMY 41; CHROMOSOME DISORDER; COPY NUMBER VARIATION; GENETIC SCREENING; GENETICS; GENOMICS; METABOLISM; PLACENTA; PREGNANCY; PRENATAL DIAGNOSIS; PROCEDURES; WHOLE GENOME SEQUENCING;

EID: 85045925258     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2017.132     Document Type: Article
Times cited : (95)

References (40)
  • 1
    • 0342618532 scopus 로고    scopus 로고
    • Presence of fetal DNA in maternal plasma and serum
    • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350:485-487.
    • (1997) Lancet , vol.350 , pp. 485-487
    • Lo, Y.M.1    Corbetta, N.2    Chamberlain, P.F.3
  • 2
    • 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;6:e010002.
    • (2016) BMJ Open , vol.6 , pp. e010002
    • Taylor-Phillips, S.1    Freeman, K.2    Geppert, J.3
  • 3
    • 84943356995 scopus 로고    scopus 로고
    • Clinical implementation of NIPT-Technical and biological challenges
    • Brady P, Brison N, Van Den Bogaert K, et al. Clinical implementation of NIPT-Technical and biological challenges. Clin Genet. 2016;89: 523-530.
    • (2016) Clin Genet , vol.89 , pp. 523-530
    • Brady, P.1    Brison, N.2    Van Den Bogaert, K.3
  • 4
    • 84987784903 scopus 로고    scopus 로고
    • Prenatal and pre-implantation genetic diagnosis
    • Vermeesch JR, Voet T, Devriendt K. Prenatal and pre-implantation genetic diagnosis. Nat Rev Genet. 2016;17:643-656.
    • (2016) Nat Rev Genet , vol.17 , pp. 643-656
    • Vermeesch, J.R.1    Voet, T.2    Devriendt, K.3
  • 5
    • 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. 2017;19:169-175.
    • (2017) Genet Med , vol.19 , pp. 169-175
    • Pescia, G.1    Guex, N.2    Iseli, C.3
  • 6
    • 85018900935 scopus 로고    scopus 로고
    • The clinical utility of genome-wide non invasive prenatal screening
    • Fiorentino F, Bono S, Pizzuti F, et al. The clinical utility of genome-wide non invasive prenatal screening. Prenat Diagn. 2017;37:593-601.
    • (2017) Prenat Diagn , vol.37 , pp. 593-601
    • Fiorentino, F.1    Bono, S.2    Pizzuti, F.3
  • 7
    • 84928473928 scopus 로고    scopus 로고
    • Copy-number variation and false positive prenatal aneuploidy screening results
    • Snyder MW, Simmons LE, Kitzman JO, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med. 2015;372:1639-1645.
    • (2015) N Engl J Med , vol.372 , pp. 1639-1645
    • Snyder, M.W.1    Simmons, L.E.2    Kitzman, J.O.3
  • 8
    • 85014853076 scopus 로고    scopus 로고
    • Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies
    • Brison N, Van Den Bogaert K, Dehaspe L, et al. Accuracy and clinical value of maternal incidental findings during noninvasive prenatal testing for fetal aneuploidies. Genet Med. 2017;19:306-313.
    • (2017) Genet Med , vol.19 , pp. 306-313
    • Brison, N.1    Van Den Bogaert, K.2    Dehaspe, L.3
  • 9
    • 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
  • 10
    • 84880043573 scopus 로고    scopus 로고
    • Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma
    • Wang E, Batey A, Struble C, Musci T, Song K, Oliphant A. Gestational age and maternal weight effects on fetal cell-free DNA in maternal plasma. Prenat Diagn. 2013;33:662-666.
    • (2013) Prenat Diagn , vol.33 , pp. 662-666
    • Wang, E.1    Batey, A.2    Struble, C.3    Musci, T.4    Song, K.5    Oliphant, A.6
  • 11
    • 1542501831 scopus 로고    scopus 로고
    • Circulating cell-free fetal DNA in maternal serum appears to originate from cyto-And syncytiotrophoblastic cells Case report
    • Flori E, Doray B, Gautier E, et al. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto-And syncytiotrophoblastic cells. Case report. Hum Reprod. 2004;19:723-724.
    • (2004) Hum Reprod , vol.19 , pp. 723-724
    • Flori, E.1    Doray, B.2    Gautier, E.3
  • 12
    • 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
  • 13
    • 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;44:109-111.
    • (2014) Ultrasound Obstet Gynecol , vol.44 , pp. 109-111
    • Srebniak, M.I.1    Diderich, K.E.2    Noomen, P.3    Dijkman, A.4    De Vries, F.A.5    Van Opstal, D.6
  • 14
    • 84955318079 scopus 로고    scopus 로고
    • False negative NIPT results: Risk figures for chromosomes 13 18 and 21 based on chorionic villi results in 5967 cases and literature review
    • Van Opstal D, Srebniak MI & Polak J, et al. False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review. PLoS One. 2016;11:e0146794.
    • (2016) PLoS One , vol.11 , pp. e0146794
    • Van Opstal, D.1    Srebniak, M.I.2    Polak, J.3
  • 15
    • 85003712711 scopus 로고    scopus 로고
    • Trial by Dutch laboratories for evaluation of non-invasive prenatal testing Part I-clinical impact
    • Oepkes D, Page-Christiaens LC, Bax CJ, et al. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part I-clinical impact. Prenat Diagn. 2016;36:1083-1090.
    • (2016) Prenat Diagn , vol.36 , pp. 1083-1090
    • Oepkes, D.1    Page-Christiaens, L.C.2    Bax, C.J.3
  • 16
    • 85003518585 scopus 로고    scopus 로고
    • Trial by Dutch laboratories for evaluation of non-invasive prenatal testing Part II-womens perspectives
    • van Schendel RV, Page-Christiaens L, Beulen L, et al. Trial by Dutch laboratories for evaluation of non-invasive prenatal testing. Part II-womens perspectives. Prenat Diagn. 2016;36:1091-1098.
    • (2016) Prenat Diagn , vol.36 , pp. 1091-1098
    • Van Schendel, R.V.1    Page-Christiaens, L.2    Beulen, L.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 , pp. e31
    • Straver, R.1    Sistermans, E.A.2    Holstege, H.3    Visser, A.4    Oudejans, C.B.5    Reinders, M.J.6
  • 18
    • 0024580708 scopus 로고
    • Chorionic villus culture for prenatal diagnosis of chromosome defects: Reduction of the long-Term cultivation time
    • Smidt-Jensen S, Christensen B, Lind AM. Chorionic villus culture for prenatal diagnosis of chromosome defects: reduction of the long-Term cultivation time. Prenat Diagn. 1989;9:309-319.
    • (1989) Prenat Diagn , vol.9 , pp. 309-319
    • Smidt-Jensen, S.1    Christensen, B.2    Lind, A.M.3
  • 20
    • 0029950129 scopus 로고    scopus 로고
    • Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization
    • Wolstenholme J. Confined placental mosaicism for trisomies 2, 3, 7, 8, 9, 16, and 22: Their incidence, likely origins, and mechanisms for cell lineage compartmentalization. Prenat Diagn. 1996;16:511-524.
    • (1996) Prenat Diagn , vol.16 , pp. 511-524
    • Wolstenholme, J.1
  • 21
    • 84962567036 scopus 로고    scopus 로고
    • Cytogenetic confirmation of a positive NIPT result: Evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration
    • Van Opstal D, Srebniak MI. Cytogenetic confirmation of a positive NIPT result: evidence-based choice between chorionic villus sampling and amniocentesis depending on chromosome aberration. Expert Rev Mol Diagn. 2016;16:513-520.
    • (2016) Expert Rev Mol Diagn , vol.16 , pp. 513-520
    • Van Opstal, D.1    Srebniak, M.I.2
  • 22
    • 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
  • 23
    • 0030941126 scopus 로고    scopus 로고
    • European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy
    • Hahnemann JM, Vejerslev LO. European collaborative research on mosaicism in CVS (EUCROMIC)-fetal and extrafetal cell lineages in 192 gestations with CVS mosaicism involving single autosomal trisomy. Am J Med Genet. 1997;70:179-187.
    • (1997) Am J Med Genet , vol.70 , pp. 179-187
    • Hahnemann, J.M.1    Vejerslev, L.O.2
  • 24
    • 0027265735 scopus 로고
    • Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization
    • Schuring-Blom GH, Keijzer M, Jakobs ME, et al. Molecular cytogenetic analysis of term placentae suspected of mosaicism using fluorescence in situ hybridization. Prenat Diagn. 1993;13:671-679.
    • (1993) Prenat Diagn , vol.13 , pp. 671-679
    • Schuring-Blom, G.H.1    Keijzer, M.2    Jakobs, M.E.3
  • 26
    • 84938798145 scopus 로고    scopus 로고
    • Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes
    • Lebo RV, Novak RW, Wolfe K, Michelson M, Robinson H, Mancuso MS. Discordant circulating fetal DNA and subsequent cytogenetics reveal false negative, placental mosaic, and fetal mosaic cfDNA genotypes. J Transl Med. 2015;13:260.
    • (2015) J Transl Med , vol.13 , pp. 260
    • Lebo, R.V.1    Novak, R.W.2    Wolfe, K.3    Michelson, M.4    Robinson, H.5    Mancuso, M.S.6
  • 27
    • 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:F223-226.
    • (1998) Arch Dis Child Fetal Neonatal Ed , vol.79 , pp. F223-226
    • Lestou, V.S.1    Kalousek, D.K.2
  • 28
    • 78649670337 scopus 로고    scopus 로고
    • Confined placental mosaicism and pregnancy outcome: A distinction needs to be made between types 2 and 3
    • Toutain J, Labeau-Gauzere C, Barnetche T, Horovitz J, Saura R. Confined placental mosaicism and pregnancy outcome: A distinction needs to be made between types 2 and 3. Prenat Diagn. 2010;30:1155-1164.
    • (2010) Prenat Diagn , vol.30 , pp. 1155-1164
    • Toutain, J.1    Labeau-Gauzere, C.2    Barnetche, T.3    Horovitz, J.4    Saura, R.5
  • 29
    • 0025991931 scopus 로고
    • Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism
    • Kalousek DK, Howard-Peebles PN, Olson SB, et al. Confirmation of CVS mosaicism in term placentae and high frequency of intrauterine growth retardation association with confined placental mosaicism. Prenat Diagn. 1991;11:743-750.
    • (1991) Prenat Diagn , vol.11 , pp. 743-750
    • Kalousek, D.K.1    Howard-Peebles, P.N.2    Olson, S.B.3
  • 30
    • 0032167660 scopus 로고    scopus 로고
    • Trisomy 16 and trisomy 16 mosaicism: A review
    • Benn P. Trisomy 16 and trisomy 16 mosaicism: A review. Am J Med Genet. 1998;79:121-133.
    • (1998) Am J Med Genet , vol.79 , pp. 121-133
    • Benn, P.1
  • 32
    • 84930324149 scopus 로고    scopus 로고
    • NIPT-based screening for Down syndrome and beyond: What do pregnant women think?
    • van Schendel RV, Dondorp WJ, Timmermans DR, et al. NIPT-based screening for Down syndrome and beyond: what do pregnant women think? Prenat Diagn. 2015;35:598-604.
    • (2015) Prenat Diagn , vol.35 , pp. 598-604
    • Van Schendel, R.V.1    Dondorp, W.J.2    Timmermans, D.R.3
  • 33
    • 84954371206 scopus 로고    scopus 로고
    • Changing to NIPT as a first-Tier screening test and future perspectives: Opinions of health professionals
    • Tamminga S, van Schendel RV, Rommers W, et al. Changing to NIPT as a first-Tier screening test and future perspectives: opinions of health professionals. Prenat Diagn. 2015;35:1316-1323.
    • (2015) Prenat Diagn , vol.35 , pp. 1316-1323
    • Tamminga, S.1    Van Schendel, R.V.2    Rommers, W.3
  • 34
    • 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
  • 35
    • 84924573940 scopus 로고    scopus 로고
    • Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies
    • Van Opstal D, de Vries F, Govaerts L, et al. Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Hum Mutat. 2015;36:319-326.
    • (2015) Hum Mutat , vol.36 , pp. 319-326
    • Van Opstal, D.1    De Vries, F.2    Govaerts, L.3
  • 36
    • 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
  • 37
    • 84948153128 scopus 로고    scopus 로고
    • Maternal malignancies detected with noninvasive prenatal testing
    • Sistermans E, Straver R, Faas BH. Maternal malignancies detected with noninvasive prenatal testing. JAMA. 2015;314:2192.
    • (2015) JAMA , vol.314 , pp. 2192
    • Sistermans, E.1    Straver, R.2    Faas, B.H.3
  • 38
    • 84952915120 scopus 로고    scopus 로고
    • Copy-number variation and false positive results of prenatal screening
    • van den Boom D, Ehrich M, Kim SK. Copy-number variation and false positive results of prenatal screening. N Engl J Med. 2015;373:2584.
    • (2015) N Engl J Med , vol.373 , pp. 2584
    • Van Den Boom, D.1    Ehrich, M.2    Kim, S.K.3
  • 39
    • 33646759577 scopus 로고    scopus 로고
    • Association of Clinical Cytogeneticists chorion villus sampling database 1987-2000
    • Wolstenholme J, Emslie JB, Connors S. Association of Clinical Cytogeneticists chorion villus sampling database 1987-2000. Prenat Diagn. 2006;26:420-427.
    • (2006) Prenat Diagn , vol.26 , pp. 420-427
    • Wolstenholme, J.1    Emslie, J.B.2    Connors, S.3
  • 40
    • 84905368547 scopus 로고    scopus 로고
    • Cytogenetic follow-up of chromosomal mosaicism detected in first-Trimester prenatal diagnosis
    • Battaglia P, Baroncini A, Mattarozzi A, et al. Cytogenetic follow-up of chromosomal mosaicism detected in first-Trimester prenatal diagnosis. Prenat Diagn. 2014;34:739-747.
    • (2014) Prenat Diagn , vol.34 , pp. 739-747
    • Battaglia, P.1    Baroncini, A.2    Mattarozzi, A.3


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