메뉴 건너뛰기




Volumn 35, Issue 10, 2015, Pages 994-998

The type of feto-placental aneuploidy detected by cfDNA testing may influence the choice of confirmatory diagnostic procedure

Author keywords

[No Author keywords available]

Indexed keywords

AMNIOCENTESIS; ANEUPLOIDY; ARTICLE; CELL FREE DNA TESTING; CHORION VILLUS SAMPLING; CONTROLLED STUDY; CYTOTROPHOBLAST; DESCRIPTIVE RESEARCH; DIAGNOSTIC TEST ACCURACY STUDY; FETUS; FETUS CIRCULATION; FETUS DISEASE; GENETIC SCREENING; HUMAN; HUMAN CELL; HUMAN TISSUE; KARYOTYPE; MAJOR CLINICAL STUDY; MATERNAL PLASMA; MESENCHYME CELL; MONOSOMY X; MOSAICISM; NON INVASIVE MEASUREMENT; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; TRISOMY 13; TRISOMY 18; TRISOMY 21; FEMALE; LABORATORY DIAGNOSIS; MATERNAL SERUM SCREENING TEST; PREGNANCY; TRISOMY;

EID: 84943352742     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.4659     Document Type: Article
Times cited : (64)

References (21)
  • 1
    • 84908870735 scopus 로고    scopus 로고
    • Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis
    • Gil MM, Akolekar R, Quezada MS, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: meta-analysis. Fetal Diagn Ther 2014;35:156-73.
    • (2014) Fetal Diagn Ther , vol.35 , pp. 156-173
    • Gil, M.M.1    Akolekar, R.2    Quezada, M.S.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, et al. Analysis of cell-free DNA in maternal blood in screening for fetal aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol 2015;45:249-66.
    • (2015) Ultrasound Obstet Gynecol , vol.45 , pp. 249-266
    • Gil, M.M.1    Quezada, M.S.2    Revello, R.3
  • 3
    • 33746643333 scopus 로고    scopus 로고
    • Trophoblastic oxidative stress and the release of cell-free feto-placental DNA
    • Tjoa ML, Cindrova-Davies T, Spasic-Boskovic O, et al. Trophoblastic oxidative stress and the release of cell-free feto-placental DNA. Am J Pathol 2006;169:400-4.
    • (2006) Am J Pathol , vol.169 , pp. 400-404
    • Tjoa, M.L.1    Cindrova-Davies, T.2    Spasic-Boskovic, O.3
  • 4
    • 1542501831 scopus 로고    scopus 로고
    • Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells
    • Flori E, Doray B, Gautier E, et al. Circulating cell-free fetal DNA in maternal serum appears to originate from cyto- and syncytio-trophoblastic cells. Case Report Hum Reprod 2004;19:723-4.
    • (2004) Case Report Hum Reprod , vol.19 , pp. 723-724
    • Flori, E.1    Doray, B.2    Gautier, E.3
  • 5
    • 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, 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(Suppl 1):S19-26.
    • (2012) Expert Opin Biol Ther , vol.12 , Issue.SUPPL 1 , pp. S19-S26
    • Faas, B.H.1    de Ligt, J.2    Janssen, I.3
  • 6
    • 0030055570 scopus 로고    scopus 로고
    • Confined placental mosaicism
    • Kalousek DK, Vekemans M. Confined placental mosaicism. J Med Genet 1996;33:529-33.
    • (1996) J Med Genet , vol.33 , pp. 529-533
    • Kalousek, D.K.1    Vekemans, M.2
  • 7
    • 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;70:179-87.
    • (1997) Am J Med Genet , vol.70 , pp. 179-187
    • Hahnemann, J.M.1    Vejerslev, L.O.2
  • 8
    • 84879495377 scopus 로고    scopus 로고
    • Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism
    • Hall AL, Drendel HM, Verbrugge JL, et al. Positive cell-free fetal DNA testing for trisomy 13 reveals confined placental mosaicism. Genet Med 2013;15:729-32.
    • (2013) Genet Med , vol.15 , pp. 729-732
    • Hall, A.L.1    Drendel, H.M.2    Verbrugge, J.L.3
  • 9
    • 84904272542 scopus 로고    scopus 로고
    • A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings
    • Pan Q, Sun B, Huang X, et al. A prenatal case with discrepant findings between non-invasive prenatal testing and fetal genetic testings. Mol Cytogenet 2014;7:48-53.
    • (2014) Mol Cytogenet , vol.7 , pp. 48-53
    • Pan, Q.1    Sun, B.2    Huang, X.3
  • 10
    • 84922902853 scopus 로고    scopus 로고
    • Analysis of two false positive cases from noninvasive prenatal testing
    • Chen X, Dai M, Shi W, et al. Analysis of two false positive cases from noninvasive prenatal testing. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2014;31:778-81.
    • (2014) Zhonghua Yi Xue Yi Chuan Xue Za Zhi , vol.31 , pp. 778-781
    • Chen, X.1    Dai, M.2    Shi, W.3
  • 11
    • 84904035928 scopus 로고    scopus 로고
    • A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis
    • Chen C, Cram DS, Xie F, et al. A pregnancy with discordant fetal and placental chromosome 18 aneuploidies revealed by invasive and noninvasive prenatal diagnosis. Reprod Biomed Online 2014;29:136-9.
    • (2014) Reprod Biomed Online , vol.29 , pp. 136-139
    • Chen, C.1    Cram, D.S.2    Xie, F.3
  • 12
    • 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, 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
  • 13
    • 84928601078 scopus 로고    scopus 로고
    • Noninvasive prenatal testing for trisomy 21, 18 and 13-clinical experience from 146,958 pregnancies
    • Zhang H, Gao Y, Jiang F, et al. Noninvasive prenatal testing for trisomy 21, 18 and 13-clinical experience from 146, 958 pregnancies. Ultrasound Obstet Gynecol 2015. DOI:10.1002/uog.14792.
    • (2015) Ultrasound Obstet Gynecol
    • Zhang, H.1    Gao, Y.2    Jiang, F.3
  • 14
    • 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, 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
  • 15
    • 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, 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
  • 16
    • 84878120833 scopus 로고    scopus 로고
    • Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plsma DNA samples
    • Futch T, Spinosa J, Bhatt S, et al. Initial clinical laboratory experience in noninvasive prenatal testing for fetal aneuploidy from maternal plsma 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
  • 17
    • 84928478811 scopus 로고    scopus 로고
    • Cell-free DNA testing: inadequate implementation of an outstanding technique
    • Borrell A, Stergiotou I. Cell-free DNA testing: inadequate implementation of an outstanding technique. Ultrasound Obstet Gynecol 2015. DOI:10.1002/uog.14795.
    • (2015) Ultrasound Obstet Gynecol
    • Borrell, A.1    Stergiotou, I.2
  • 18
    • 84924218659 scopus 로고    scopus 로고
    • Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis
    • Grati FR. Chromosomal mosaicism in human feto-placental development: implications for prenatal diagnosis. J Clin Med 2014;3:809-37.
    • (2014) J Clin Med , vol.3 , pp. 809-837
    • Grati, F.R.1
  • 19
    • 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;16:620-4.
    • (2014) Genet Med , vol.16 , pp. 620-624
    • Grati, F.R.1    Malvestiti, F.2    Ferreira, J.C.3
  • 20
    • 0032580377 scopus 로고    scopus 로고
    • Interval estimation for the difference between independent proportions: comparison of eleven methods
    • Newcombe RG. Interval estimation for the difference between independent proportions: comparison of eleven methods. Stat Med 1998;17:873-90.
    • (1998) Stat Med , vol.17 , pp. 873-890
    • Newcombe, R.G.1
  • 21
    • 84886793092 scopus 로고    scopus 로고
    • Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy?
    • Mennuti MT, Cherry AM, Morrissette JJ, Dugoff L. Is it time to sound an alarm about false-positive cell-free DNA testing for fetal aneuploidy? Am J Obstet Gynecol 2013;209:415-9.
    • (2013) Am J Obstet Gynecol , vol.209 , pp. 415-419
    • Mennuti, M.T.1    Cherry, A.M.2    Morrissette, J.J.3    Dugoff, L.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.