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Volumn 30, Issue 9, 2008, Pages 781-787

Suitability of Rapid Aneuploidy Detection for Prenatal Diagnosis

Author keywords

Aneuploidy; Chromosome aberrations; Fluorescence in situ hybridization; Genetic screening; Polymerase chain reaction; Prenatal diagnosis

Indexed keywords

ADULT; AMNIOCENTESIS; ARTICLE; CHROMOSOME ABERRATION; CHROMOSOME REARRANGEMENT; ECHOGRAPHY; FEMALE; FETUS DISEASE; FLUORESCENCE ANALYSIS; GENETIC SCREENING; HEALTH CARE POLICY; HIGH RISK PREGNANCY; HUMAN; KARYOTYPING; MOLECULAR DIAGNOSIS; OUTCOME ASSESSMENT; POLYMERASE CHAIN REACTION; PREDICTION; PREGNANCY OUTCOME; PRENATAL DIAGNOSIS; QUANTITATIVE ANALYSIS; RAPID ANEUPLOIDY DETECTION; RISK ASSESSMENT; RISK FACTOR; ANEUPLOIDY; COMPARATIVE STUDY; METHODOLOGY; NEWBORN; PREGNANCY; RETROSPECTIVE STUDY;

EID: 58149401469     PISSN: 17012163     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1701-2163(16)32942-5     Document Type: Article
Times cited : (9)

References (21)
  • 1
    • 84971425168 scopus 로고    scopus 로고
    • New molecular techniques for the prenatal detection of chromosomal aneuploidy. SOGC Clinical Practice Guideline No. 210, July 2008
    • Sparkes R., Johnson J., Langlois S. New molecular techniques for the prenatal detection of chromosomal aneuploidy. SOGC Clinical Practice Guideline No. 210, July 2008. J Obstet Gynaecol Can 2008, 30:617-620.
    • (2008) J Obstet Gynaecol Can , vol.30 , pp. 617-620
    • Sparkes, R.1    Johnson, J.2    Langlois, S.3
  • 2
    • 0035968604 scopus 로고    scopus 로고
    • Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis
    • Mann K., Fox S.P., Abbs S.J., Yau S.C., Scriven P.N., Docherty Z., et al. Development and implementation of a new rapid aneuploidy diagnostic service within the UK National Health Service and implications for the future of prenatal diagnosis. Lancet 2001, 358(9287):1057-1061.
    • (2001) Lancet , vol.358 , Issue.9287 , pp. 1057-1061
    • Mann, K.1    Fox, S.P.2    Abbs, S.J.3    Yau, S.C.4    Scriven, P.N.5    Docherty, Z.6
  • 3
    • 0033841101 scopus 로고    scopus 로고
    • Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk
    • Schmidt W., Jenderny J., Hecher K., Hackeloer B.J., Kerber S., Kochhan L., et al. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 2000, 6(9):855-860.
    • (2000) Mol Hum Reprod , vol.6 , Issue.9 , pp. 855-860
    • Schmidt, W.1    Jenderny, J.2    Hecher, K.3    Hackeloer, B.J.4    Kerber, S.5    Kochhan, L.6
  • 4
    • 0027534753 scopus 로고
    • Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms
    • Mansfield E.S. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993, 2(1):43-50.
    • (1993) Hum Mol Genet , vol.2 , Issue.1 , pp. 43-50
    • Mansfield, E.S.1
  • 5
    • 0034789823 scopus 로고    scopus 로고
    • Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies
    • Cirigliano V., Ejarque M., Canadas M.P., Lloveras E., Plaja A., Perez M.M., et al. Clinical application of multiplex quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid prenatal detection of common chromosome aneuploidies. Mol Hum Reprod 2001, 7(10):1001-1006.
    • (2001) Mol Hum Reprod , vol.7 , Issue.10 , pp. 1001-1006
    • Cirigliano, V.1    Ejarque, M.2    Canadas, M.P.3    Lloveras, E.4    Plaja, A.5    Perez, M.M.6
  • 6
    • 0036849384 scopus 로고    scopus 로고
    • X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies
    • Cirigliano V., Ejarque M., Fuster C., Adinolfi M. X chromosome dosage by quantitative fluorescent PCR and rapid prenatal diagnosis of sex chromosome aneuploidies. Mol Hum Reprod 2002, 8(11):1042-1045.
    • (2002) Mol Hum Reprod , vol.8 , Issue.11 , pp. 1042-1045
    • Cirigliano, V.1    Ejarque, M.2    Fuster, C.3    Adinolfi, M.4
  • 7
    • 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(2):171-175.
    • (2005) Eur J Hum Genet , vol.13 , Issue.2 , pp. 171-175
    • Gerdes, T.1    Kirchhoff, M.2    Lind, A.M.3    Larsen, G.V.4    Schwartz, M.5    Lundsteen, C.6
  • 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. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005, 25(11):1032-1039.
    • (2005) Prenat Diagn , vol.25 , Issue.11 , pp. 1032-1039
    • Hochstenbach, R.1    Meijer, J.2
  • 9
    • 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. Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003, 40(12):907-912.
    • (2003) J Med Genet , vol.40 , Issue.12 , pp. 907-912
    • Slater, H.R.1    Bruno, D.L.2    Ren, H.3    Pertile, M.4    Schouten, J.P.5    Choo, K.H.6
  • 11
    • 33845589861 scopus 로고    scopus 로고
    • Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance
    • Huang B., Solomon S., Thangavelu M., Peters K., Bhatt S. Supernumerary marker chromosomes detected in 100,000 prenatal diagnoses: molecular cytogenetic studies and clinical significance. Prenat Diagn 2006, 26(12):1142-1150.
    • (2006) Prenat Diagn , vol.26 , Issue.12 , pp. 1142-1150
    • Huang, B.1    Solomon, S.2    Thangavelu, M.3    Peters, K.4    Bhatt, S.5
  • 13
    • 32944461753 scopus 로고    scopus 로고
    • The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing
    • Ogilvie C.M., Lashwood A., Chitty L., Waters J.J., Scriven P.N., Flinter F. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG 2005, 112(10):1369-1375.
    • (2005) BJOG , vol.112 , Issue.10 , pp. 1369-1375
    • Ogilvie, C.M.1    Lashwood, A.2    Chitty, L.3    Waters, J.J.4    Scriven, P.N.5    Flinter, F.6
  • 14
    • 7944238741 scopus 로고    scopus 로고
    • Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses
    • Leung W.C., Waters J.J., Chitty L. Prenatal diagnosis by rapid aneuploidy detection and karyotyping: a prospective study of the role of ultrasound in 1589 second-trimester amniocenteses. Prenat Diagn 2004, 24(10):790-795.
    • (2004) Prenat Diagn , vol.24 , Issue.10 , pp. 790-795
    • Leung, W.C.1    Waters, J.J.2    Chitty, L.3
  • 15
    • 33644777447 scopus 로고    scopus 로고
    • Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study
    • Chitty L.S., Kagan K.O., Molina F.S., Waters J.J., Nicolaides K.H. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 2006, 332(7539):452-455.
    • (2006) BMJ , vol.332 , Issue.7539 , pp. 452-455
    • Chitty, L.S.1    Kagan, K.O.2    Molina, F.S.3    Waters, J.J.4    Nicolaides, K.H.5
  • 16
    • 0038715444 scopus 로고    scopus 로고
    • Prenatal diagnosis for chromosome abnormalities: past, present and future
    • Ogilvie C.M. Prenatal diagnosis for chromosome abnormalities: past, present and future. Pathol Biol (Paris) 2003, 51(3):156-160.
    • (2003) Pathol Biol (Paris) , vol.51 , Issue.3 , pp. 156-160
    • Ogilvie, C.M.1
  • 17
    • 0038066292 scopus 로고    scopus 로고
    • Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome?
    • Leung W.C., Lau E.T., Lao T.T., Tang M.H. Can amnio-polymerase chain reaction alone replace conventional cytogenetic study for women with positive biochemical screening for fetal Down syndrome?. Obstet Gynecol 2003, 101(5 Pt 1):856-861.
    • (2003) Obstet Gynecol , vol.101 , Issue.5 , pp. 856-861
    • Leung, W.C.1    Lau, E.T.2    Lao, T.T.3    Tang, M.H.4
  • 18
    • 22244465516 scopus 로고    scopus 로고
    • Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment
    • Caine A., Maltby A.E., Parkin C.A., Waters J.J., Crolla J.A. Prenatal detection of Down's syndrome by rapid aneuploidy testing for chromosomes 13, 18, and 21 by FISH or PCR without a full karyotype: a cytogenetic risk assessment. Lancet 2005, 366(9480):123-128.
    • (2005) Lancet , vol.366 , Issue.9480 , pp. 123-128
    • Caine, A.1    Maltby, A.E.2    Parkin, C.A.3    Waters, J.J.4    Crolla, J.A.5
  • 19
    • 0034872121 scopus 로고    scopus 로고
    • Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening
    • Ryall R.G., Callen D., Cocciolone R., Duvnjak A., Esca R., Frantzis N., et al. Karyotypes found in the population declared at increased risk of Down syndrome following maternal serum screening. Prenat Diagn 2001, 21(7):553-557.
    • (2001) Prenat Diagn , vol.21 , Issue.7 , pp. 553-557
    • Ryall, R.G.1    Callen, D.2    Cocciolone, R.3    Duvnjak, A.4    Esca, R.5    Frantzis, N.6
  • 20
    • 12144289820 scopus 로고    scopus 로고
    • Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases
    • Brun J.L., Gangbo F., Wen Z.Q., Galant K., Taine L., Maugey-Laulom B., et al. Prenatal diagnosis and management of sex chromosome aneuploidy: a report on 98 cases. Prenat Diagn 2004, 24(3):213-218.
    • (2004) Prenat Diagn , vol.24 , Issue.3 , pp. 213-218
    • Brun, J.L.1    Gangbo, F.2    Wen, Z.Q.3    Galant, K.4    Taine, L.5    Maugey-Laulom, B.6
  • 21
    • 0035941685 scopus 로고    scopus 로고
    • What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study
    • Abramsky L., Hall S., Levitan J., Marteau T.M. What parents are told after prenatal diagnosis of a sex chromosome abnormality: interview and questionnaire study. BMJ 2001, 322(7284):463-466.
    • (2001) BMJ , vol.322 , Issue.7284 , pp. 463-466
    • Abramsky, L.1    Hall, S.2    Levitan, J.3    Marteau, T.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.