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Volumn 17, Issue 10, 2015, Pages 836-838

Maternal cell-free DNA-based screening for fetal microdeletion and the importance of careful diagnostic follow-up

Author keywords

cell free DNA; DiGeorge; noninvasive prenatal screening; whole genome sequencing

Indexed keywords

CELL FREE DNA; DNA; UNCLASSIFIED DRUG;

EID: 84937712692     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.197     Document Type: Article
Times cited : (37)

References (9)
  • 1
    • 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
  • 2
    • 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
  • 3
    • 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
  • 4
    • 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
  • 5
    • 18744420597 scopus 로고    scopus 로고
    • A novel atypical 22q11.2 distal deletion in father and son
    • Garcia-Miñaur S, Fantes J, Murray RS, et al A novel atypical 22q11.2 distal deletion in father and son. J Med Genet 2002; 39: E62
    • (2002) J Med Genet , vol.39 , pp. E62
    • Garcia-Miñaur, S.1    Fantes, J.2    Murray, R.S.3
  • 6
    • 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 , pp. e109173
    • McCullough, R.M.1    Almasri, E.A.2    Guan, X.3
  • 7
    • 80755172331 scopus 로고    scopus 로고
    • DNA sequencing of maternal plasma to detect down syndrome: An international clinical validation study
    • Palomaki GE, Kloza EM, Lambert-Messerlian GM, et al. DNA sequencing of maternal plasma to detect Down syndrome: an international clinical validation study. Genet Med 2011; 13: 913-920
    • (2011) Genet Med , vol.13 , pp. 913-920
    • Palomaki, G.E.1    Kloza, E.M.2    Lambert-Messerlian, G.M.3
  • 8
    • 84864408781 scopus 로고    scopus 로고
    • Non-invasive chromosomal evaluation (nice) study: Results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18
    • Norton ME, Brar H, Weiss J, et al. Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 207: 137.e1-137.e8
    • (2012) Am J Obstet Gynecol , vol.207 , pp. 137e1-137e8
    • Norton, M.E.1    Brar, H.2    Weiss, J.3
  • 9
    • 84870156368 scopus 로고    scopus 로고
    • The American College of Obstetricians and Gynecologists Committee on Genetics; The Society for Maternal-Fetal Medicine Publications Committee. Committee Opinion No. 545. Noninvasive prenatal testing for fetal aneuploidy
    • The American College of Obstetricians and Gynecologists Committee on Genetics; The Society for Maternal-Fetal Medicine Publications Committee. Committee Opinion No. 545. Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol 2012; 120: 1532-1534
    • (2012) Obstet Gynecol , vol.120 , pp. 1532-1534


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.