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Volumn 367, Issue 23, 2012, Pages 2185-2193

Karyotype versus microarray testing for genetic abnormalities after stillbirth

(18)  Reddy, Uma M a   Page, Grier P b   Saade, George R c   Silver, Robert M d   Thorsten, Vanessa R b   Parker, Corette B b   Pinar, Halit e   Willinger, Marian a   Stoll, Barbara J f   Heim Hall, Josefine h   Varner, Michael W d   Goldenberg, Robert L i   Bukowski, Radek c   Wapner, Ronald J i   Drews Botsch, Carolyn D g   O'Brien, Barbara M e   Dudley, Donald J h   Levy, Brynn i  


Author keywords

[No Author keywords available]

Indexed keywords

ANEUPLOIDY; ARTICLE; AUTOPSY; CONGENITAL MALFORMATION; CONTROLLED STUDY; COPY NUMBER VARIATION; DIAGNOSTIC ACCURACY; DIAGNOSTIC TEST ACCURACY STUDY; DIAGNOSTIC VALUE; FEMALE; FETUS; GENETIC DISORDER; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; KARYOTYPE; MAJOR CLINICAL STUDY; MICROARRAY ANALYSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; STILLBIRTH;

EID: 84870567269     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1201569     Document Type: Article
Times cited : (203)

References (31)
  • 1
    • 65349188918 scopus 로고    scopus 로고
    • Fetal and perinatal mortality, United States, 2005
    • MacDorman MF, Kirmeyer S. Fetal and perinatal mortality, United States, 2005. Natl Vital Stat Rep 2009;57(8):1-19.
    • (2009) Natl Vital Stat Rep , vol.57 , Issue.8 , pp. 1-19
    • MacDorman, M.F.1    Kirmeyer, S.2
  • 3
    • 0028295791 scopus 로고
    • Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths
    • Pauli RM, Reiser CA, Lebovitz RM, Kirkpatrick SJ. Wisconsin Stillbirth Service Program: I. Establishment and assessment of a community-based program for etiologic investigation of intrauterine deaths. Am J Med Genet 1994;50:116-34.
    • (1994) Am J Med Genet , Issue.50 , pp. 116-134
    • Pauli, R.M.1    Reiser, C.A.2    Lebovitz, R.M.3    Kirkpatrick, S.J.4
  • 4
    • 41649092864 scopus 로고    scopus 로고
    • Cytogenetic analysis after evaluation of 750 fetal deaths: Proposal for diagnostic workup
    • Korteweg FJ, Bouman K, Erwich JJ, et al. Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup. Obstet Gynecol 2008;111:865-74.
    • (2008) Obstet Gynecol , vol.111 , pp. 865-874
    • Korteweg, F.J.1    Bouman, K.2    Erwich, J.J.3
  • 5
    • 80051547599 scopus 로고    scopus 로고
    • Stillbirth Collaborative Research Network: Design, methods and recruitment experience
    • Parker CB, Hogue CJR, Koch MA, et al. Stillbirth Collaborative Research Network: design, methods and recruitment experience. Paediatr Perinat Epidemiol 2011;25:425-35.
    • (2011) Paediatr Perinat Epidemiol , vol.25 , pp. 425-435
    • Parker, C.B.1    Hogue, C.J.R.2    Koch, M.A.3
  • 6
    • 84858752834 scopus 로고    scopus 로고
    • The Stillbirth Collaborative Research Network postmortem examination protocol
    • Pinar H, Koch MA, Hawkins H, et al. The Stillbirth Collaborative Research Network postmortem examination protocol. Am J Perinatol 2012;29:187-202.
    • (2012) Am J Perinatol , vol.29 , pp. 187-202
    • Pinar, H.1    Koch, M.A.2    Hawkins, H.3
  • 7
    • 83455216380 scopus 로고    scopus 로고
    • The Stillbirth Collaborative Research Network (SCRN) placental and umbilical cord examination protocol
    • Pinar H, Koch MA, Hawkins H, et al. The Stillbirth Collaborative Research Network (SCRN) placental and umbilical cord examination protocol. Am J Perinatol 2011;28:781-92.
    • (2011) Am J Perinatol , vol.28 , pp. 781-792
    • Pinar, H.1    Koch, M.A.2    Hawkins, H.3
  • 8
    • 79960812993 scopus 로고    scopus 로고
    • American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants
    • Kearney HM, Thorland EC, Brown KK, Quintero-Rivera F, South ST. American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants. Genet Med 2011;13:680-5.
    • (2011) Genet Med , vol.13 , pp. 680-685
    • Kearney, H.M.1    Thorland, E.C.2    Brown, K.K.3    Quintero-Rivera, F.4    South, S.T.5
  • 10
    • 84870538685 scopus 로고    scopus 로고
    • International Standards for Cytogenetic Arrays Consortium
    • International Standards for Cytogenetic Arrays Consortium. All known benign copy-number variants in the Consortium's database (https://www. iscaconsortium.org/images/stories/isca/ISCA-Known-benign-regions-hg18.txt).
    • All Known Benign Copy-number Variants in the Consortium's Database
  • 12
    • 33751527925 scopus 로고    scopus 로고
    • Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome
    • Zhang J, Feuk L, Duggan GE, Khaja R, Scherer SW. Development of bioinformatics resources for display and analysis of copy number and other structural variants in the human genome. Cytogenet Genome Res 2006;115:205-14.
    • (2006) Cytogenet Genome Res , vol.115 , pp. 205-214
    • Zhang, J.1    Feuk, L.2    Duggan, G.E.3    Khaja, R.4    Scherer, S.W.5
  • 15
  • 16
    • 33747612154 scopus 로고    scopus 로고
    • Confidence intervals for a ratio of binomial proportions based on paired data
    • Bonett DG, Price RM. Confidence intervals for a ratio of binomial proportions based on paired data. Stat Med 2006;25:3039-47.
    • (2006) Stat Med , vol.25 , pp. 3039-3047
    • Bonett, D.G.1    Price, R.M.2
  • 17
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet 2010;86:749-64.
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3
  • 18
    • 84867172514 scopus 로고    scopus 로고
    • Phenotypic heterogeneity of genomic disorders and rare copy-number variants
    • Girirajan S, Rosenfeld JA, Coe BP, et al. Phenotypic heterogeneity of genomic disorders and rare copy-number variants. N Engl J Med 2012;367:1321-31.
    • (2012) N Engl J Med , vol.367 , pp. 1321-1331
    • Girirajan, S.1    Rosenfeld, J.A.2    Coe, B.P.3
  • 19
    • 84868686559 scopus 로고    scopus 로고
    • Diagnostic exome sequencing in persons with severe intellectual disability
    • de Ligt J, Willemsen MH, van Bon BWM, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921-9.
    • (2012) N Engl J Med , vol.367 , pp. 1921-1929
    • De Ligt, J.1    Willemsen, M.H.2    Van Bon, B.W.M.3
  • 20
    • 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;367:2175-84.
    • (2012) N Engl J Med , vol.367 , pp. 2175-2184
    • Wapner, R.J.1    Martin, C.L.2    Levy, B.3
  • 21
    • 27144547761 scopus 로고    scopus 로고
    • Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro
    • Benkhalifa M, Kasakyan S, Clement P, et al. Array comparative genomic hybridization profiling of first-trimester spontaneous abortions that fail to grow in vitro. Prenat Diagn 2005;25:894-900.
    • (2005) Prenat Diagn , vol.25 , pp. 894-900
    • Benkhalifa, M.1    Kasakyan, S.2    Clement, P.3
  • 22
    • 2442666390 scopus 로고    scopus 로고
    • Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages
    • Schaeffer AJ, Chung J, Heretis K, Wong A, Ledbetter DH, Lese Martin C. Comparative genomic hybridization-array analysis enhances the detection of aneuploidies and submicroscopic imbalances in spontaneous miscarriages. Am J Hum Genet 2004;74:1168-74.
    • (2004) Am J Hum Genet , vol.74 , pp. 1168-1174
    • Schaeffer, A.J.1    Chung, J.2    Heretis, K.3    Wong, A.4    Ledbetter, D.H.5    Lese Martin, C.6
  • 23
    • 73549116345 scopus 로고    scopus 로고
    • Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation
    • Warren JE, Turok DK, Maxwell TM, Brothman AR, Silver RM. Array comparative genomic hybridization for genetic evaluation of fetal loss between 10 and 20 weeks of gestation. Obstet Gynecol 2009;114:1093-102.
    • (2009) Obstet Gynecol , vol.114 , pp. 1093-1102
    • Warren, J.E.1    Turok, D.K.2    Maxwell, T.M.3    Brothman, A.R.4    Silver, R.M.5
  • 24
    • 70449380736 scopus 로고    scopus 로고
    • Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth
    • Raca G, Artzer A, Thorson L, et al. Array-based comparative genomic hybridization (aCGH) in the genetic evaluation of stillbirth. Am J Med Genet A 2009;149A:2437-43.
    • (2009) Am J Med Genet A , vol.149 A , pp. 2437-2443
    • Raca, G.1    Artzer, A.2    Thorson, L.3
  • 25
    • 80053305854 scopus 로고    scopus 로고
    • Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths
    • Harris RA, Ferrari F, Ben-Shachar S, et al. Genome-wide array-based copy number profiling in human placentas from unexplained stillbirths. Prenat Diagn 2011;31:932-44.
    • (2011) Prenat Diagn , vol.31 , pp. 932-944
    • Harris, R.A.1    Ferrari, F.2    Ben-Shachar, S.3
  • 27
    • 0242607574 scopus 로고    scopus 로고
    • Microduplication 22q11.2, an emerging syndrome: Clinical, cytogenetic, and molecular analysis of thirteen patients
    • Ensenauer RE, Adeyinka A, Flynn HC, et al. Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients. Am J Hum Genet 2003;73:1027-40.
    • (2003) Am J Hum Genet , vol.73 , pp. 1027-1040
    • Ensenauer, R.E.1    Adeyinka, A.2    Flynn, H.C.3
  • 28
    • 33745597393 scopus 로고    scopus 로고
    • The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies
    • de La Rochebrochard C, Joly-Hélas G, Goldenberg A, et al. The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies. Am J Med Genet A 2006;140:1608-13.
    • (2006) Am J Med Genet A , vol.140 , pp. 1608-1613
    • De La Rochebrochard, C.1    Joly-Hélas, G.2    Goldenberg, A.3
  • 29
    • 67349189512 scopus 로고    scopus 로고
    • Microduplication 22q11.2: A new chromosomal syndrome
    • Portnoï MF. Microduplication 22q11.2: a new chromosomal syndrome. Eur J Med Genet 2009;52:88-93.
    • (2009) Eur J Med Genet , vol.52 , pp. 88-93
    • Portnoï, M.F.1
  • 30
    • 0035746391 scopus 로고    scopus 로고
    • Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: Cast a wide FISHing net!
    • McDonald-McGinn DM, Tonnesen MK, Laufer-Cahana A, et al. Phenotype of the 22q11.2 deletion in individuals identified through an affected relative: cast a wide FISHing net! Genet Med 2001;3:23-9.
    • (2001) Genet Med , vol.3 , pp. 23-29
    • McDonald-McGinn, D.M.1    Tonnesen, M.K.2    Laufer-Cahana, A.3
  • 31
    • 83455235074 scopus 로고    scopus 로고
    • Causes of death among stillbirths
    • The Stillbirth Collaborative Research Network Writing Group
    • The Stillbirth Collaborative Research Network Writing Group. Causes of death among stillbirths. JAMA 2011;306:2459-68.
    • (2011) JAMA , vol.306 , pp. 2459-2468


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