메뉴 건너뛰기




Volumn 32, Issue 8, 2011, Pages 1147-1157

The contribution of chromosomal abnormalities to congenital heart defects: A population-based study

Author keywords

Chromosomal abnormality; Congenital heart defect; Congenital heart disease; Epidemiology; Prevalence

Indexed keywords

AORTA ARCH INTERRUPTION; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME DELETION 22Q11; COHORT ANALYSIS; CONGENITAL HEART DISEASE; CONGENITAL HEART MALFORMATION; DISEASE ASSOCIATION; DISEASE SURVEILLANCE; EBSTEIN ANOMALY; EUROPEAN AMERICAN; FALLOT TETRALOGY; FEMALE; FETUS DEATH; FETUS MORTALITY; HEART ATRIUM SEPTUM DEFECT; HEART RIGHT VENTRICLE DOUBLE OUTLET; HEART VENTRICLE SEPTUM DEFECT; HETEROTAXY SYNDROME; HISPANIC; HUMAN; INFANT; KARYOTYPE 45,X; KLINEFELTER SYNDROME; LIVE BIRTH; LUNG VEIN DRAINAGE ANOMALY; MAJOR CLINICAL STUDY; MALE; MATERNAL AGE; PULMONARY VALVE STENOSIS; RACE DIFFERENCE; TRISOMY 13; TRISOMY 18; TRISOMY 21; VASCULAR RING;

EID: 83555166186     PISSN: 01720643     EISSN: 14321971     Source Type: Journal    
DOI: 10.1007/s00246-011-0034-5     Document Type: Article
Times cited : (161)

References (37)
  • 1
    • 48849108010 scopus 로고    scopus 로고
    • Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray
    • 18496225 10.1097/GIM.0b013e318177015c 1:CAS:528:DC%2BD1cXnslant70%3D
    • EL Baldwin JY Lee DM Blake BP Bunke CR Alexander AL Kogan, et al. 2008 Enhanced detection of clinically relevant genomic imbalances using a targeted plus whole genome oligonucleotide microarray Genet Med 10 415 429 18496225 10.1097/GIM.0b013e318177015c 1:CAS:528:DC%2BD1cXnslant70%3D
    • (2008) Genet Med , vol.10 , pp. 415-429
    • Baldwin, E.L.1    Lee, J.Y.2    Blake, D.M.3    Bunke, B.P.4    Alexander, C.R.5    Kogan, A.L.6
  • 2
    • 33846055706 scopus 로고    scopus 로고
    • Clinical practice guideline: Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group
    • DOI 10.1210/jc.2006-1374
    • CA Bondy 2007 Care of girls and women with Turner syndrome: a guideline of the Turner Syndrome Study Group J Clin Endocrinol Metab 92 10 25 17047017 10.1210/jc.2006-1374 1:CAS:528:DC%2BD2sXpsVGrsA%3D%3D (Pubitemid 46067503)
    • (2007) Journal of Clinical Endocrinology and Metabolism , vol.92 , Issue.1 , pp. 10-25
    • Bondy, C.A.1
  • 5
    • 33846630909 scopus 로고    scopus 로고
    • Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects-United States, 2003
    • Centers for Disease Control
    • Centers for Disease Control 2007 Hospital stays, hospital charges, and in-hospital deaths among infants with selected birth defects-United States, 2003 MMWR Morbid Mortal Wkly Rep 56 25 29
    • (2007) MMWR Morbid Mortal Wkly Rep , vol.56 , pp. 25-29
  • 8
    • 59849085100 scopus 로고    scopus 로고
    • Including prenatal diagnoses in birth defects monitoring: Experience of the Metropolitan Atlanta Congenital Defects Program
    • 19089857 10.1002/bdra.20508 1:CAS:528:DC%2BD1MXhs1Knurs%3D
    • JD Cragan SM Gilboa 2009 Including prenatal diagnoses in birth defects monitoring: experience of the Metropolitan Atlanta Congenital Defects Program Birth Defects Res A Clin Mol Teratol 85 20 29 19089857 10.1002/bdra.20508 1:CAS:528:DC%2BD1MXhs1Knurs%3D
    • (2009) Birth Defects Res A Clin Mol Teratol , vol.85 , pp. 20-29
    • Cragan, J.D.1    Gilboa, S.M.2
  • 9
    • 57449113011 scopus 로고    scopus 로고
    • Descriptive epidemiology of congenital heart disease in Northern England
    • 19228315 10.1111/j.1365-3016.2008.00987.x
    • P Dadvand J Rankin MD Shirley S Rushton T Pless-Mulloli 2009 Descriptive epidemiology of congenital heart disease in Northern England Paediatr Perinat Epidemiol 23 58 65 19228315 10.1111/j.1365-3016.2008.00987.x
    • (2009) Paediatr Perinat Epidemiol , vol.23 , pp. 58-65
    • Dadvand, P.1    Rankin, J.2    Shirley, M.D.3    Rushton, S.4    Pless-Mulloli, T.5
  • 11
    • 0024476864 scopus 로고
    • Congential cardiovascular malformations associated with chromosome abnormalities: An epidemiologic study
    • DOI 10.1016/S0022-3476(89)80605-5
    • C Ferencz CA Neill JA Boughman JD Rubin JI Brenner LW Perry 1989 Congenital cardiovascular malformations associated with chromosome abnormalities: an epidemiologic study J Pediatr 114 79 86 2521249 10.1016/S0022-3476(89)80605-5 1:STN:280:DyaL1M%2FotV2gtA%3D%3D (Pubitemid 19027744)
    • (1989) Journal of Pediatrics , vol.114 , Issue.1 , pp. 79-86
    • Ferencz, C.1    Neill, C.A.2    Boughman, J.A.3    Rubin, J.D.4    Brenner, J.I.5    Perry, L.W.6
  • 13
    • 0033611737 scopus 로고    scopus 로고
    • Syndromes and malformations associated with congenital heart disease in a population-based study
    • DOI 10.1016/S0167-5273(98)00354-4, PII S0167527398003544
    • V Grech M Gatt 1999 Syndromes and malformations associated with congenital heart disease in a population-based study Int J Cardiol 68 151 156 10189002 10.1016/S0167-5273(98)00354-4 1:STN:280:DyaK1M3gt1yrtw%3D%3D (Pubitemid 29083464)
    • (1999) International Journal of Cardiology , vol.68 , Issue.2 , pp. 151-156
    • Grech, V.1    Gatt, M.2
  • 14
    • 0043246535 scopus 로고    scopus 로고
    • The epidemiology of cardiovascular defects, Part 2: A study based on data from three large registries of congenital malformations
    • DOI 10.1007/s00246-002-9402-5
    • JA Harris C Francannet P Pradat E Robert 2003 The epidemiology of cardiovascular defects, part 2: a study based on data from three large registries of congenital malformations Pediatr Cardiol 24 222 235 12632214 10.1007/s00246-002-9402-5 1:STN:280:DC%2BD3s3mt12ltQ%3D%3D (Pubitemid 36920007)
    • (2003) Pediatric Cardiology , vol.24 , Issue.3 , pp. 222-235
    • Harris, J.A.1    Francannet, C.2    Pradat, P.3    Robert, E.4
  • 15
    • 0031005732 scopus 로고    scopus 로고
    • Chromosome abnormalities in congenital heart disease
    • DOI 10.1002/(SICI)1096-8628(19970613)70:3<292::AID-AJMG15>3.0.CO;2- G
    • MC Johnson A Hing MK Wood MS Watson 1997 Chromosome abnormalities in congenital heart disease Am J Med Genet 70 292 298 9188669 10.1002/(SICI)1096- 8628(19970613)70:3<292::AID-AJMG15>3.0.CO;2-G 1:STN:280: DyaK2szjt1Cgtw%3D%3D (Pubitemid 27250857)
    • (1997) American Journal of Medical Genetics , vol.70 , Issue.3 , pp. 292-298
    • Johnson, M.C.1    Hing, A.2    Wood, M.K.3    Watson, M.S.4
  • 16
    • 0027365001 scopus 로고
    • The incidence of congenital heart defects in the first year of life
    • SA Kidd PA Lancaster RM McCredie 1993 The incidence of congenital heart defects in the first year of life J Paediatr Child Health 29 344 349 8240861 10.1111/j.1440-1754.1993.tb00531.x 1:STN:280:DyaK2c%2FlvFKhug%3D%3D (Pubitemid 23301068)
    • (1993) Journal of Paediatrics and Child Health , vol.29 , Issue.5 , pp. 344-349
    • Kidd, S.A.1    Lancaster, P.A.L.2    McCredie, R.M.3
  • 17
    • 59849108619 scopus 로고    scopus 로고
    • Chromosomal abnormalities among children born with conotruncal cardiac defects
    • 19067405 10.1002/bdra.20541 1:CAS:528:DC%2BD1MXhs1Knurg%3D
    • EJ Lammer JS Chak DM Iovannisci K Schultz K Osoegawa W Yang, et al. 2009 Chromosomal abnormalities among children born with conotruncal cardiac defects Birth Defects Res A Clin Mol Teratol 85 30 35 19067405 10.1002/bdra.20541 1:CAS:528:DC%2BD1MXhs1Knurg%3D
    • (2009) Birth Defects Res A Clin Mol Teratol , vol.85 , pp. 30-35
    • Lammer, E.J.1    Chak, J.S.2    Iovannisci, D.M.3    Schultz, K.4    Osoegawa, K.5    Yang, W.6
  • 18
    • 58249088497 scopus 로고    scopus 로고
    • Genomic imbalances in neonates with birth defects: High detection rates by using chromosomal microarray analysis
    • 19047251 10.1542/peds.2008-0297
    • XY Lu MT Phung CA Shaw K Pham SE Neil A Patel, et al. 2008 Genomic imbalances in neonates with birth defects: high detection rates by using chromosomal microarray analysis Pediatrics 122 1310 1318 19047251 10.1542/peds.2008-0297
    • (2008) Pediatrics , vol.122 , pp. 1310-1318
    • Lu, X.Y.1    Phung, M.T.2    Shaw, C.A.3    Pham, K.4    Neil, S.E.5    Patel, A.6
  • 19
    • 0034538594 scopus 로고    scopus 로고
    • Congenital heart disease and genetic syndromes: Specific correlation between cardiac phenotype and genotype
    • DOI 10.1016/S1054-8807(00)00050-8, PII S1054880700000508
    • B Marino MC Digilio 2000 Congenital heart disease and genetic syndromes: specific correlation between cardiac phenotype and genotype Cardiovasc Pathol 9 303 315 11146300 10.1016/S1054-8807(00)00050-8 1:STN:280: DC%2BD3M%2FpvVentg%3D%3D (Pubitemid 32012558)
    • (2000) Cardiovascular Pathology , vol.9 , Issue.6 , pp. 303-315
    • Marino, B.1    Digilio, M.C.2
  • 20
    • 58149147080 scopus 로고    scopus 로고
    • Infant mortality statistics from the 2005 period linked birth/infant death data set
    • 18972721 1:STN:280:DC%2BD1cjgsl2gsQ%3D%3D
    • TJ Mathews MF MacDorman 2008 Infant mortality statistics from the 2005 period linked birth/infant death data set Natl Vital Stat Rep 57 1 32 18972721 1:STN:280:DC%2BD1cjgsl2gsQ%3D%3D
    • (2008) Natl Vital Stat Rep , vol.57 , pp. 1-32
    • Mathews, T.J.1    MacDorman, M.F.2
  • 21
    • 77952032690 scopus 로고    scopus 로고
    • Consensus statement: Chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies
    • 20466091 10.1016/j.ajhg.2010.04.006 1:CAS:528:DC%2BC3cXms1arsbw%3D
    • DT Miller MP Adam S Aradhya LG Biesecker AR Brothman NP Carter, et al. 2010 Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies Am J Hum Genet 86 749 764 20466091 10.1016/j.ajhg.2010.04.006 1:CAS:528:DC%2BC3cXms1arsbw%3D
    • (2010) Am J Hum Genet , vol.86 , pp. 749-764
    • Miller, D.T.1    Adam, M.P.2    Aradhya, S.3    Biesecker, L.G.4    Brothman, A.R.5    Carter, N.P.6
  • 22
    • 50049105485 scopus 로고    scopus 로고
    • Double outlet right ventricle: Aetiologies and associations
    • 18456715 10.1136/jmg.2008.057984 1:STN:280:DC%2BD1cvptFOmtA%3D%3D
    • D Obler AL Juraszek LB Smoot MR Natowicz 2008 Double outlet right ventricle: aetiologies and associations J Med Genet 45 481 497 18456715 10.1136/jmg.2008.057984 1:STN:280:DC%2BD1cvptFOmtA%3D%3D
    • (2008) J Med Genet , vol.45 , pp. 481-497
    • Obler, D.1    Juraszek, A.L.2    Smoot, L.B.3    Natowicz, M.R.4
  • 23
    • 34250305402 scopus 로고    scopus 로고
    • Genetic basis for congenital heart defects: Current knowledge - A scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young
    • DOI 10.1161/CIRCULATIONAHA.106.183056, PII 0000301720070612000017
    • ME Pierpont CT Basson DW Benson Jr BD Gelb TM Giglia E Goldmuntz, et al. 2007 Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics Circulation 115 3015 3038 17519398 10.1161/CIRCULATIONAHA.106.183056 (Pubitemid 46912107)
    • (2007) Circulation , vol.115 , Issue.23 , pp. 3015-3038
    • Pierpont, M.E.1    Basson, C.T.2    Benson Jr., D.W.3    Gelb, B.D.4    Giglia, T.M.5    Goldmuntz, E.6    McGee, G.7    Sable, C.A.8    Srivastava, D.9    Webb, C.L.10
  • 24
    • 0026614384 scopus 로고
    • Epidemiology of major congenital heart defects in Sweden, 1981-1986
    • 1645073 10.1136/jech.46.3.211 1:STN:280:DyaK38zlsF2rug%3D%3D
    • P Pradat 1992 Epidemiology of major congenital heart defects in Sweden, 1981-1986 J Epidemiol Community Health 46 211 215 1645073 10.1136/jech.46.3.211 1:STN:280:DyaK38zlsF2rug%3D%3D
    • (1992) J Epidemiol Community Health , vol.46 , pp. 211-215
    • Pradat, P.1
  • 25
    • 77953689537 scopus 로고    scopus 로고
    • Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot
    • 19948535 10.1136/jmg.2009.070391 1:CAS:528:DC%2BC3cXotVWlt7w%3D
    • R Rauch M Hofbeck C Zweier A Koch S Zink U Trautmann, et al. 2010 Comprehensive genotype-phenotype analysis in 230 patients with tetralogy of Fallot J Med Genet 47 321 331 19948535 10.1136/jmg.2009.070391 1:CAS:528:DC%2BC3cXotVWlt7w%3D
    • (2010) J Med Genet , vol.47 , pp. 321-331
    • Rauch, R.1    Hofbeck, M.2    Zweier, C.3    Koch, A.4    Zink, S.5    Trautmann, U.6
  • 26
    • 56049102822 scopus 로고    scopus 로고
    • Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005
    • 18657826 10.1016/j.jpeds.2008.05.059
    • MD Reller MJ Strickland T Riehle-Colarusso WT Mahle A Correa 2008 Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005 J Pediatr 153 807 813 18657826 10.1016/j.jpeds.2008.05.059
    • (2008) J Pediatr , vol.153 , pp. 807-813
    • Reller, M.D.1    Strickland, M.J.2    Riehle-Colarusso, T.3    Mahle, W.T.4    Correa, A.5
  • 28
    • 0025062739 scopus 로고
    • Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: A report of 9 cases and literature review
    • EJ Roskes JA Boughman S Schwartz MM Cohen 1990 Congenital cardiovascular malformations (CCVM) and structural chromosome abnormalities: a report of 9 cases and literature review Clin Genet 38 198 210 2225528 10.1111/j.1399-0004. 1990.tb03571.x 1:STN:280:DyaK3M%2FjtVWisQ%3D%3D (Pubitemid 20269274)
    • (1990) Clinical Genetics , vol.38 , Issue.3 , pp. 198-210
    • Roskes, E.J.1    Boughman, J.A.2    Schwartz, S.3    Cohen, M.M.4
  • 29
    • 19844380345 scopus 로고    scopus 로고
    • New trends in chromosomal investigation in children with cardiovascular malformations
    • 15679998 10.1017/S1047951104006079
    • R Schellberg G Schwanitz L Gravinghoff R Kallenberg D Trost R Raff, et al. 2004 New trends in chromosomal investigation in children with cardiovascular malformations Cardiol Young 14 622 629 15679998 10.1017/S1047951104006079
    • (2004) Cardiol Young , vol.14 , pp. 622-629
    • Schellberg, R.1    Schwanitz, G.2    Gravinghoff, L.3    Kallenberg, R.4    Trost, D.5    Raff, R.6
  • 30
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • DOI 10.1016/j.jpeds.2006.02.006, PII S0022347606001053
    • LG Shaffer CD Kashork R Saleki E Rorem K Sundin BC Ballif, et al. 2006 Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases J Pediatr 149 98 102 16860135 10.1016/j.jpeds.2006.02.006 1:CAS:528:DC%2BD28XntFSnsL4%3D (Pubitemid 44081919)
    • (2006) Journal of Pediatrics , vol.149 , Issue.1 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6    Bejjani, B.A.7
  • 32
    • 60849091227 scopus 로고    scopus 로고
    • The importance of nomenclature for congenital cardiac disease: Implications for research and evaluation
    • 19063779 10.1017/S1047951108002515
    • MJ Strickland TJ Riehle-Colarusso JP Jacobs MD Reller WT Mahle LD Botto, et al. 2008 The importance of nomenclature for congenital cardiac disease: implications for research and evaluation Cardiol Young 18 Suppl 2 92 100 19063779 10.1017/S1047951108002515
    • (2008) Cardiol Young , vol.18 , Issue.SUPPL. 2 , pp. 92-100
    • Strickland, M.J.1    Riehle-Colarusso, T.J.2    Jacobs, J.P.3    Reller, M.D.4    Mahle, W.T.5    Botto, L.D.6
  • 33
    • 0042320814 scopus 로고    scopus 로고
    • Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: Clinical report and review of the natural history
    • BT Tinkle ME Walker RI Blough-Pfau HM Saal RJ Hopkin 2003 Unexpected survival in a case of prenatally diagnosed non-mosaic trisomy 22: clinical report and review of the natural history Am J Med Genet A 118A 90 95 12605450 10.1002/ajmg.a.10216 (Pubitemid 37063979)
    • (2003) American Journal of Medical Genetics , vol.118 A , Issue.1 , pp. 90-95
    • Tinkle, B.T.1    Walker, M.E.2    Blough-Pfau, R.I.3    Saal, H.M.4    Hopkin, R.J.5
  • 34
    • 0032486113 scopus 로고    scopus 로고
    • Anomalies in Down syndrome individuals in a large population-based registry
    • DOI 10.1002/(SICI)1096-8628(19980605)77:5<431::AID-AJMG15>3.0.CO;2- J
    • CP Torfs RE Christianson 1998 Anomalies in Down syndrome individuals in a large population-based registry Am J Med Genet 77 431 438 9632176 10.1002/(SICI)1096-8628(19980605)77:5<431::AID-AJMG15>3.0.CO;2-J 1:STN:280:DyaK1c3ptl2ltw%3D%3D (Pubitemid 28283692)
    • (1998) American Journal of Medical Genetics , vol.77 , Issue.5 , pp. 431-438
    • Torfs, C.P.1    Christianson, R.E.2
  • 35
    • 0032933710 scopus 로고    scopus 로고
    • Associations between chromosomal anomalies and congenital heart defects: A database search
    • DOI 10.1002/(SICI)1096-8628(19990521)84:2<158::AID-AJMG13>3.0.CO;2- 5
    • CD van Karnebeek RC Hennekam 1999 Associations between chromosomal anomalies and congenital heart defects: a database search Am J Med Genet 84 158 166 10323742 10.1002/(SICI)1096-8628(19990521)84:2<158::AID-AJMG13>3.0. CO;2-5 (Pubitemid 29201083)
    • (1999) American Journal of Medical Genetics , vol.84 , Issue.2 , pp. 158-166
    • Van Karnebeek, C.D.M.1    Hennekam, R.C.M.2
  • 36
    • 0028277755 scopus 로고
    • Estimates of the economic costs of birth defects
    • NJ Waitzman PS Romano RM Scheffler 1994 Estimates of the economic costs of birth defects Inquiry 31 188 205 8021024 1:STN:280:DyaK2c3pt1amuw%3D%3D (Pubitemid 24226070)
    • (1994) Inquiry , vol.31 , Issue.2 , pp. 188-205
    • Waitzman, N.J.1    Romano, P.S.2    Scheffler, R.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.