메뉴 건너뛰기




Volumn 50, Issue 1, 2011, Pages 85-94

Rapid aneuploidy diagnosis by multiplex ligation-dependent probe amplification and array comparative genomic hybridization in pregnancy with major congenital malformations

Author keywords

Array based comparative genomic hybridization (aCGH); Multiplex ligation dependent probe amplification (MLPA); Rapid aneuploidy diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; ANEUPLOIDY; AORTA STENOSIS; ARTICLE; BRAIN MALFORMATION; BRAIN VENTRICLE DILATATION; CASE REPORT; CHOROID PLEXUS; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CLUBFOOT; COMPARATIVE GENOMIC HYBRIDIZATION; CONGENITAL DIAPHRAGM HERNIA; CONGENITAL MALFORMATION; CORDOCENTESIS; CYSTIC LYMPHANGIOMA; FALLOT TETRALOGY; FEMALE; GESTATIONAL AGE; HOLOPROSENCEPHALY; HUMAN; HYDRONEPHROSIS; LIGATION; MONOSOMY X; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; OMPHALOCELE; PRIMIGRAVIDA; TRISOMY 13; TRISOMY 18; TRISOMY 21; TURNER SYNDROME;

EID: 79953805632     PISSN: 10284559     EISSN: 10284559     Source Type: Journal    
DOI: 10.1016/j.tjog.2010.05.001     Document Type: Article
Times cited : (22)

References (38)
  • 1
    • 34748822995 scopus 로고    scopus 로고
    • Prenatal cytogenetic diagnosis: gone FISHing, BAC soon!
    • Bui T.H. Prenatal cytogenetic diagnosis: gone FISHing, BAC soon!. Ultrasound Obstet Gynecol 2007, 30:247-251.
    • (2007) Ultrasound Obstet Gynecol , vol.30 , pp. 247-251
    • Bui, T.H.1
  • 3
    • 57649228924 scopus 로고    scopus 로고
    • Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples
    • Van Opstal D., Boter M., de Jong D., van den Berg C., Brüggenwirth H.T., Wildschut H.I., et al. Rapid aneuploidy detection with multiplex ligation-dependent probe amplification: a prospective study of 4000 amniotic fluid samples. Eur J Hum Genet 2009, 17:112-121.
    • (2009) Eur J Hum Genet , vol.17 , pp. 112-121
    • Van Opstal, D.1    Boter, M.2    de Jong, D.3    van den Berg, C.4    Brüggenwirth, H.T.5    Wildschut, H.I.6
  • 4
    • 2342578875 scopus 로고    scopus 로고
    • MLPA and MAPH: new techniques for detection of gene deletions
    • Sellner L.N., Taylor G.R. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004, 23:413-419.
    • (2004) Hum Mutat , vol.23 , pp. 413-419
    • Sellner, L.N.1    Taylor, G.R.2
  • 5
    • 1642544630 scopus 로고    scopus 로고
    • Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA)
    • Slater H.R., Bruno D.L., Ren H., Pertile M., Schouten J.P., Choo K.H.A. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003, 40:907-912.
    • (2003) J Med Genet , vol.40 , pp. 907-912
    • Slater, H.R.1    Bruno, D.L.2    Ren, H.3    Pertile, M.4    Schouten, J.P.5    Choo, K.H.A.6
  • 6
    • 13544268702 scopus 로고    scopus 로고
    • Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA)
    • Gerdes T., Kirchhoff M., Lind A.M., Larsen G.V., Schwartz M., Lundsteen C. Computer-assisted prenatal aneuploidy screening for chromosome 13, 18, 21, X and Y based on multiplex ligation-dependent probe amplification (MLPA). Eur J Hum Genet 2005, 13:171-175.
    • (2005) Eur J Hum Genet , vol.13 , pp. 171-175
    • Gerdes, T.1    Kirchhoff, M.2    Lind, A.M.3    Larsen, G.V.4    Schwartz, M.5    Lundsteen, C.6
  • 7
    • 57149087083 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y
    • Gerdes T., Kirchhoff M., Lind A.M., Vestergaard Larsen G., Kjaergaard S. Multiplex ligation-dependent probe amplification (MLPA) in prenatal diagnosis-experience of a large series of rapid testing for aneuploidy of chromosomes 13, 18, 21, X, and Y. Prenat Diagn 2008, 28:1119-1125.
    • (2008) Prenat Diagn , vol.28 , pp. 1119-1125
    • Gerdes, T.1    Kirchhoff, M.2    Lind, A.M.3    Vestergaard Larsen, G.4    Kjaergaard, S.5
  • 8
    • 28544432673 scopus 로고    scopus 로고
    • Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA)
    • Hochstenbach R., Meijer J., van de Brug J., Vossebeld-Hoff I., Jansen R., van der Luijt R.B., et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005, 25:1032-1039.
    • (2005) Prenat Diagn , vol.25 , pp. 1032-1039
    • Hochstenbach, R.1    Meijer, J.2    van de Brug, J.3    Vossebeld-Hoff, I.4    Jansen, R.5    van der Luijt, R.B.6
  • 9
    • 34347220136 scopus 로고    scopus 로고
    • External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic techniques: 3 years experience
    • Ramsden S.C., Mann K., McConnell C., Hastings R. External quality assessment of rapid prenatal detection of numerical chromosomal aberrations using molecular genetic techniques: 3 years experience. Prenat Diagn 2007, 27:404-408.
    • (2007) Prenat Diagn , vol.27 , pp. 404-408
    • Ramsden, S.C.1    Mann, K.2    McConnell, C.3    Hastings, R.4
  • 10
    • 44649196405 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study
    • Boormans E.M.A., Birnie E., Wildschut H.I., et al. Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the M.A.K.E. study. BMC Pregnancy Childbirth 2008, 8:18.
    • (2008) BMC Pregnancy Childbirth , vol.8 , pp. 18
    • Boormans, E.M.A.1    Birnie, E.2    Wildschut, H.I.3
  • 11
    • 76549123986 scopus 로고    scopus 로고
    • Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis
    • MLP and Karyotyping Evaluation (M.A.K.E.) Study Group
    • Boormans E.M., Birnie E., Oepkes D., Galjaard R.J., Schuring-Blom G.H., van Lith J.M. Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis. Obstet Gynecol 2010, 115:297-303. MLP and Karyotyping Evaluation (M.A.K.E.) Study Group.
    • (2010) Obstet Gynecol , vol.115 , pp. 297-303
    • Boormans, E.M.1    Birnie, E.2    Oepkes, D.3    Galjaard, R.J.4    Schuring-Blom, G.H.5    van Lith, J.M.6
  • 12
    • 57349179575 scopus 로고    scopus 로고
    • Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells
    • Kooper A.J.A., Faas B.H., Kater-Baats E., Feuth T., Janssen J.C., van der Burgt I., Lotgering F.K., et al. Multiplex ligation-dependent probe amplification (MLPA) as a stand-alone test for rapid aneuploidy detection in amniotic fluid cells. Prenat Diagn 2008, 28:1004-1010.
    • (2008) Prenat Diagn , vol.28 , pp. 1004-1010
    • Kooper, A.J.A.1    Faas, B.H.2    Kater-Baats, E.3    Feuth, T.4    Janssen, J.C.5    van der Burgt, I.6    Lotgering, F.K.7
  • 13
    • 33947237911 scopus 로고    scopus 로고
    • Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis
    • Shaffer L.G., Bui T.H. Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007, 145C:87-98.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 C , pp. 87-98
    • Shaffer, L.G.1    Bui, T.H.2
  • 14
    • 77949498196 scopus 로고    scopus 로고
    • Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes
    • Chen C.P., Su Y.N., Tsai F.J., Lin H.H., Chern S.R., Lee M.S., et al. Terminal 2q deletion and distal 15q duplication: prenatal diagnosis by array comparative genomic hybridization using uncultured amniocytes. Taiwan J Obstet Gynecol 2009, 48:441-445.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 441-445
    • Chen, C.P.1    Su, Y.N.2    Tsai, F.J.3    Lin, H.H.4    Chern, S.R.5    Lee, M.S.6
  • 15
  • 16
    • 33746167778 scopus 로고    scopus 로고
    • Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases
    • Shaffer L.G., Kashork C.D., Saleki R., Rorem E., Sundin K., Ballif B.C., et al. Targeted genomic microarray analysis for identification of chromosome abnormalities in 1500 consecutive clinical cases. J Pediatr 2006, 149:98-102.
    • (2006) J Pediatr , vol.149 , pp. 98-102
    • Shaffer, L.G.1    Kashork, C.D.2    Saleki, R.3    Rorem, E.4    Sundin, K.5    Ballif, B.C.6
  • 17
    • 42949105202 scopus 로고    scopus 로고
    • Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13
    • Chen C.P., Shih J.C., Tzen C.Y., Chern S.R., Lee C.C., Wang W. Prenatal visualization of cebocephaly with a prominent nose in a second-trimester fetus with alobar holoprosencephaly and trisomy 13. Taiwan J Obstet Gynecol 2008, 47:95-97.
    • (2008) Taiwan J Obstet Gynecol , vol.47 , pp. 95-97
    • Chen, C.P.1    Shih, J.C.2    Tzen, C.Y.3    Chern, S.R.4    Lee, C.C.5    Wang, W.6
  • 18
    • 0029838858 scopus 로고    scopus 로고
    • Holoprosencephaly: epidemiologic and clinical characteristics of a California population
    • Croen L.A., Shaw G.M., Lammer E.J. Holoprosencephaly: epidemiologic and clinical characteristics of a California population. Am J Med Genet 1996, 64:465-472.
    • (1996) Am J Med Genet , vol.64 , pp. 465-472
    • Croen, L.A.1    Shaw, G.M.2    Lammer, E.J.3
  • 19
    • 0030734649 scopus 로고    scopus 로고
    • Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989
    • Olsen C.L., Hughes J.P., Youngblood L.G., Sharpe-Stimac M. Epidemiology of holoprosencephaly and phenotypic characteristics of affected children: New York State, 1984-1989. Am J Med Genet 1997, 73:217-226.
    • (1997) Am J Med Genet , vol.73 , pp. 217-226
    • Olsen, C.L.1    Hughes, J.P.2    Youngblood, L.G.3    Sharpe-Stimac, M.4
  • 20
    • 0035339735 scopus 로고    scopus 로고
    • Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England
    • Bullen P.J., Rankin J.M., Robson S.C. Investigation of the epidemiology and prenatal diagnosis of holoprosencephaly in the North of England. Am J Obstet Gynecol 2001, 184:1256-1262.
    • (2001) Am J Obstet Gynecol , vol.184 , pp. 1256-1262
    • Bullen, P.J.1    Rankin, J.M.2    Robson, S.C.3
  • 22
    • 73449108095 scopus 로고    scopus 로고
    • Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly
    • Chen C.P., Chern S.R., Tsai F.J., Hsu C.Y., Ko K., Wang W. Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly. Taiwan J Obstet Gynecol 2009, 48:323-326.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 323-326
    • Chen, C.P.1    Chern, S.R.2    Tsai, F.J.3    Hsu, C.Y.4    Ko, K.5    Wang, W.6
  • 23
    • 73449115725 scopus 로고    scopus 로고
    • Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II)
    • Chen C.P. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (II). Taiwan J Obstet Gynecol 2009, 48:218-224.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 218-224
    • Chen, C.P.1
  • 25
    • 73449130564 scopus 로고    scopus 로고
    • Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I)
    • Chen C.P. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (I). Taiwan J Obstet Gynecol 2009, 48:210-217.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 210-217
    • Chen, C.P.1
  • 28
    • 77949507003 scopus 로고    scopus 로고
    • Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III)
    • Chen C.P. Prenatal sonographic features of fetuses in trisomy 13 pregnancies (III). Taiwan J Obstet Gynecol 2009, 48:342-349.
    • (2009) Taiwan J Obstet Gynecol , vol.48 , pp. 342-349
    • Chen, C.P.1
  • 29
    • 0030449719 scopus 로고    scopus 로고
    • Etiologic and genetic factors in congenital diaphragmatic hernia
    • Tibboel D., Gaag A.V. Etiologic and genetic factors in congenital diaphragmatic hernia. Clin Perinatol 1996, 23:689-699.
    • (1996) Clin Perinatol , vol.23 , pp. 689-699
    • Tibboel, D.1    Gaag, A.V.2
  • 30
    • 20444445000 scopus 로고    scopus 로고
    • The genetics of congenital diaphragmatic hernia
    • Slavotinek A.M. The genetics of congenital diaphragmatic hernia. Semin Perinatol 2005, 29:77-85.
    • (2005) Semin Perinatol , vol.29 , pp. 77-85
    • Slavotinek, A.M.1
  • 32
    • 34249063569 scopus 로고    scopus 로고
    • Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
    • Pober B.R. Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH. Am J Med Genet C Semin Med Genet 2007, 145C:158-171.
    • (2007) Am J Med Genet C Semin Med Genet , vol.145 C , pp. 158-171
    • Pober, B.R.1
  • 33
    • 45149084133 scopus 로고    scopus 로고
    • Genetic aspects of human congenital diaphragmatic hernia
    • Pober B.R. Genetic aspects of human congenital diaphragmatic hernia. Clin Genet 2008, 74:1-15.
    • (2008) Clin Genet , vol.74 , pp. 1-15
    • Pober, B.R.1
  • 34
    • 0031712042 scopus 로고    scopus 로고
    • Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review
    • Enns G.M., Cox V.A., Goldstein R.B., Gibbs D.L., Harrison M.R., Golabi M. Congenital diaphragmatic defects and associated syndromes, malformations, and chromosome anomalies: a retrospective study of 60 patients and literature review. Am J Med Genet 1998, 79:215-225.
    • (1998) Am J Med Genet , vol.79 , pp. 215-225
    • Enns, G.M.1    Cox, V.A.2    Goldstein, R.B.3    Gibbs, D.L.4    Harrison, M.R.5    Golabi, M.6
  • 35
    • 3042826545 scopus 로고    scopus 로고
    • Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature
    • Chen C.P., Chern S.R., Cheng S.J., Lee C.C., Huang J.K., Wang W., et al. Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacral spina bifida and congenital diaphragmatic hernia, and review of the literature. Prenat Diagn 2004, 24:455-462.
    • (2004) Prenat Diagn , vol.24 , pp. 455-462
    • Chen, C.P.1    Chern, S.R.2    Cheng, S.J.3    Lee, C.C.4    Huang, J.K.5    Wang, W.6
  • 36
    • 66249105352 scopus 로고    scopus 로고
    • Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses
    • Song M.S., Hu A., Dyamenahalli U., Chitayat D., Winsor E.J., Ryan G., et al. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol 2009, 33:552-559.
    • (2009) Ultrasound Obstet Gynecol , vol.33 , pp. 552-559
    • Song, M.S.1    Hu, A.2    Dyamenahalli, U.3    Chitayat, D.4    Winsor, E.J.5    Ryan, G.6
  • 37
    • 0028081732 scopus 로고
    • Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome
    • Gøtzsche C.O., Krag-Olsen B., Nielsen J., Sorensen K.E., Kristensen BØ Prevalence of cardiovascular malformations and association with karyotypes in Turner's syndrome. Arch Dis Child 1994, 71:433-436.
    • (1994) Arch Dis Child , vol.71 , pp. 433-436
    • Gøtzsche, C.O.1    Krag-Olsen, B.2    Nielsen, J.3    Sorensen, K.E.4    Kristensen BØ5
  • 38
    • 0032976415 scopus 로고    scopus 로고
    • Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-up of 136 nonpreselected patients
    • Prandstraller D., Mazzanti L., Picchio F.M., Magnani C., Bergamaschi R., Perri A., et al. Turner's syndrome: cardiologic profile according to the different chromosomal patterns and long-term clinical follow-up of 136 nonpreselected patients. Pediatr Cardiol 1999, 20:108-112.
    • (1999) Pediatr Cardiol , vol.20 , pp. 108-112
    • Prandstraller, D.1    Mazzanti, L.2    Picchio, F.M.3    Magnani, C.4    Bergamaschi, R.5    Perri, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.