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Volumn 9, Issue 1, 2016, Pages

Detection of complex deletions in chromosomes 13 and 21 in a fetus by noninvasive prenatal testing

Author keywords

Array based comparative genomic hybridization; Karyotype analysis; Noninvasive prenatal testing; Subchromosomal abnormalities

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CASE REPORT; CHROMOSOME DELETION; CHROMOSOME DELETION 13; CHROMOSOME DELETION 21; CHROMOSOME TRANSLOCATION; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DOWN SYNDROME; FEMALE; FETUS; GENETIC SCREENING; HUMAN; KARYOTYPE 45,X; KARYOTYPE 45,XX; KARYOTYPE 46,XX; KARYOTYPING; NON INVASIVE MEASUREMENT; PRENATAL SCREENING; PRIORITY JOURNAL;

EID: 84954133108     PISSN: None     EISSN: 17558166     Source Type: Journal    
DOI: 10.1186/s13039-016-0213-4     Document Type: Article
Times cited : (18)

References (14)
  • 1
    • 58149490683 scopus 로고    scopus 로고
    • Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma
    • 19073917 1:CAS:528:DC%2BD1MXhtlemuw%3D%3D 2600580
    • Chiu RW, Chan KC, Gao Y, Lau VY, Zheng W, Leung TY, et al. Noninvasive prenatal diagnosis of fetal chromosomal aneuploidy by massively parallel genomic sequencing of DNA in maternal plasma. Proc Natl Acad Sci U S A. 2008;105:20458-63.
    • (2008) Proc Natl Acad Sci U S A. , vol.105 , pp. 20458-20463
    • Chiu, R.W.1    Chan, K.C.2    Gao, Y.3    Lau, V.Y.4    Zheng, W.5    Leung, T.Y.6
  • 2
    • 79952302397 scopus 로고    scopus 로고
    • Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: A study in a clinical setting
    • e1-11
    • Ehrich M, Deciu C, Zwiefelhofer T, Tynan JA, Cagasan L, Tim R, et al. Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol. 2011;204:205 e1-11.
    • (2011) Am J Obstet Gynecol. , vol.204 , pp. 205
    • Ehrich, M.1    Deciu, C.2    Zwiefelhofer, T.3    Tynan, J.A.4    Cagasan, L.5    Tim, R.6
  • 3
    • 84874616358 scopus 로고    scopus 로고
    • High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma
    • 23483908 1:CAS:528:DC%2BC3sXktlSqt7w%3D 3590217
    • Jensen TJ, Zwiefelhofer T, Tim RC, Džakula Ž, Kim SK, Mazloom AR, et al. High-throughput massively parallel sequencing for fetal aneuploidy detection from maternal plasma. PLoS One. 2013;8:e57381.
    • (2013) PLoS One , vol.8 , pp. e57381
    • Jensen, T.J.1    Zwiefelhofer, T.2    Tim, R.C.3    Džakula, Z.4    Kim, S.K.5    Mazloom, A.R.6
  • 4
    • 84925707774 scopus 로고    scopus 로고
    • Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma
    • 25710461 1:CAS:528:DC%2BC2MXlsl2gsrk%3D
    • Zhao C, Tynan J, Ehrich M, Hannum G, McCullough R, Saldivar JS et al. Detection of fetal subchromosomal abnormalities by sequencing circulating cell-free DNA from maternal plasma. Clin Chem. 2015;61:608-16.
    • (2015) Clin Chem. , vol.61 , pp. 608-616
    • Zhao, C.1    Tynan, J.2    Ehrich, M.3    Hannum, G.4    McCullough, R.5    Saldivar, J.S.6
  • 5
    • 84944161591 scopus 로고    scopus 로고
    • Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management
    • 25585704 1:CAS:528:DC%2BC2MXhtFGrs7Y%3D
    • Bayindir B, Dehaspe L, Brison N, Brady P, Ardui S, Kammoun M 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;23:1286-93.
    • (2015) Eur J Hum Genet. , vol.23 , pp. 1286-1293
    • Bayindir, B.1    Dehaspe, L.2    Brison, N.3    Brady, P.4    Ardui, S.5    Kammoun, M.6
  • 6
    • 84928473928 scopus 로고    scopus 로고
    • Copy-number variation and false positive prenatal aneuploidy screening results
    • 25830323 1:CAS:528:DC%2BC2MXhtFOls7bF 4411081
    • Snyder MW, Simmons LE, Kitzman JO, Coe BP, Henson JM, Daza RM, et al. Copy-number variation and false positive prenatal aneuploidy screening results. N Engl J Med. 2015;372:1639-45.
    • (2015) N Engl J Med. , vol.372 , pp. 1639-1645
    • Snyder, M.W.1    Simmons, L.E.2    Kitzman, J.O.3    Coe, B.P.4    Henson, J.M.5    Daza, R.M.6
  • 7
    • 84878135436 scopus 로고    scopus 로고
    • A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing
    • 23592436
    • Chen S, Lau TK, Zhang C, Xu C, Xu Z, Hu P et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013;33:584-90.
    • (2013) Prenat Diagn. , vol.33 , pp. 584-590
    • Chen, S.1    Lau, T.K.2    Zhang, C.3    Xu, C.4    Xu, Z.5    Hu, P.6
  • 9
    • 84878144362 scopus 로고    scopus 로고
    • Noninvasive prenatal testing: The paradigm is shifting rapidly
    • 23686654
    • Chitty LS, Bianchi DW. Noninvasive prenatal testing: the paradigm is shifting rapidly. Prenat Diagn. 2013;33:511-3.
    • (2013) Prenat Diagn. , vol.33 , pp. 511-513
    • Chitty, L.S.1    Bianchi, D.W.2
  • 10
    • 84863574483 scopus 로고    scopus 로고
    • Detection of microdeletion 22q11.2 in a fetus by next-generation sequencing of maternal plasma
    • 22563040 1:CAS:528:DC%2BC38XhtVegsrjN
    • 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;58:1148-51.
    • (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
  • 11
    • 84876269433 scopus 로고    scopus 로고
    • Noninvasive prenatal molecular karyotyping from maternal plasma
    • 23613765 1:CAS:528:DC%2BC3sXmvVGjtro%3D 3629174
    • Yu SC, Jiang P, Choy KW, Chan KC, Won HS, Leung WC, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013;8:e60968.
    • (2013) PLoS One , vol.8 , pp. e60968
    • Yu, S.C.1    Jiang, P.2    Choy, K.W.3    Chan, K.C.4    Won, H.S.5    Leung, W.C.6
  • 12
    • 84899014645 scopus 로고    scopus 로고
    • WISECONDOR: Detection of fetal aberrations from shallow sequencing maternal plasma based on a within-sample comparison scheme
    • 24170809 1:CAS:528:DC%2BC2cXktlersL0%3D 3950725
    • 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
  • 13
    • 84902515837 scopus 로고    scopus 로고
    • Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing
    • 24931986 1:CAS:528:DC%2BC2cXpvFCqt7k%3D 4058944
    • Rampasek L, Arbabi A, Brudno M. Probabilistic method for detecting copy number variation in a fetal genome using maternal plasma sequencing. Bioinformatics. 2014;30:i212-8.
    • (2014) Bioinformatics. , vol.30 , pp. i212-i218
    • Rampasek, L.1    Arbabi, A.2    Brudno, M.3
  • 14
    • 84953374210 scopus 로고    scopus 로고
    • Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies
    • 26033469 1:STN:280:DC%2BC2MfptlKrsg%3D%3D
    • Li R, Wan J, Zhang Y, Fu F, Ou Y, Jing X, et al. Detection of fetal copy number variations by noninvasive prenatal testing for common aneuploidies. Ultrasound Obstet Gynecol 2016;47:53-7.
    • (2016) Ultrasound Obstet Gynecol , vol.47 , pp. 53-57
    • Li, R.1    Wan, J.2    Zhang, Y.3    Fu, F.4    Ou, Y.5    Jing, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.