Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification

Journal of Molecular Diagnostics

Volumn 11, Issue 1, 2009, Pages 17-24

  Kooper, Angelique J A ^a,c   Faas, Brigitte H W ^a   Feuth, Ton ^b   Creemers, Johan W T ^a   Zondervan, Hans H ^c,d   Boekkooi, Peter F ^e   Quartero, Rik W P ^f   Rijnders, Robbert J P ^g   Van Burgt, Ineke Der ^a   Van Kessel, Ad Geurts ^a   Smits, Arie P T ^a  

^a Department of Human Genetics ^*  (Netherlands)

^b Biostatistics and Health Technology Assessment   (Netherlands)

^c RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^d RIJNSTATE HOSPITAL   (Netherlands)

^e Wabasha Clinic   (United States)

^f MEDISCH SPECTRUM TWENTE   (Netherlands)

^g JEROEN BOSCH HOSPITAL   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGENASE; DNA; PROTEINASE K; TRYPSIN;

ANEUPLOIDY; ARTICLE; CELL DIFFERENTIATION; CHORION VILLUS SAMPLING; CHROMOSOME 13; CHROMOSOME 18; CHROMOSOME 21; CHROMOSOME IDENTIFICATION; CLINICAL ARTICLE; CYTOTROPHOBLAST; DIAGNOSTIC KIT; DNA EXTRACTION; FEMALE; GENETIC SCREENING; HUMAN; HUMAN TISSUE; INTERMETHOD COMPARISON; KARYOTYPING; MESENCHYME; MOSAICISM; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION; PRENATAL SCREENING; RELIABILITY; TISSUE CULTURE; X CHROMOSOME; Y CHROMOSOME;

ANEUPLOIDY; CHORIONIC VILLI; CHROMOSOMES, HUMAN; FEMALE; GENETIC TESTING; HUMANS; KARYOTYPING; NUCLEIC ACID AMPLIFICATION TECHNIQUES; PREGNANCY; PRENATAL DIAGNOSIS; SENSITIVITY AND SPECIFICITY;

EID: 58849092332     PISSN: 15251578     EISSN: None     Source Type: Journal    
DOI: 10.2353/jmoldx.2009.070140     Document Type: Article

References (26)

1. Cirigliano V, Voglino G, Cañadas MP, Marongiu A, Ejarque M, Ordoñez E, Plaja A, Massobrio M, Todros T, Fuster C, Campogrande M, Egozcue J, Adinolfi M: Rapid prenatal diagnosis of common chromosome aneuploidies by QF-PCR. Assessment on 18,000 consecutive clinical samples. Mol Hum Reprod 2004, 10:839-846
2. Kooper AJA, Faas BHW, Kater-Baats E, Feuth T, Janssen JCJA, van der Burgt I, Lotgering FK, Geurts van Kessel A. Smits APT: 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
3. Hochstenbach R, Meijer J, van de Brug J, vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, Page-Christiaens GC, Ploos van Amstel JK, de Pater JM: Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005, 25:1032-1039
4. Slater HR, Bruno DL, Ren H, Pertile M, Schouten JP, Choo KH: Rapid, high throughput prenatal detection of aneuploidy using a novel quantitative method (MLPA). J Med Genet 2003, 40:907-912
5. Kalousek DK, Vekemans M: Confined placental mosaicism. J Med Genet 1996, 33:529-533
6. Stetten G, Escallon CS, South ST, McMichael JL, Saul DO, Blakemore KJ: Reevaluating confined placental mosaicism. Am J Med Genet A 2004, 15; 131:232-239
7. Simoni G, Fraccaro M: Does confined placental mosaicism affect the fetus? Hum Reprod 1992, 7:139-140
8. Mann K, Kabba M, Donaghue C, Hills A, Ogilvie CM: Analysis of a chromosomally mosaic placenta to assess the cell populations in dissociated chorionic villi: implications for QF-PCR aneuploidy testing. Prenat Diagn 2007, 27:287-289
9. Mellink CH, Mw. de Pater JM, Poddighe PJ, Smeets DFCM: Kwaliteit van klinisch cytogenetisch onderzoek: voorwaarden, normen en toetsen. Guideliness in Dutch of NAV-VGKN, 2003, 9:1-31
10. rd ed. Oxford University Press. 2004; Oxford, London pp. 363-392
11. Schouten JP, McElgunn CJ, Waaijer R, Zwijnenburg D, Diepvens F. Pals G: Relative quantification of 40 nucleic acid sequences by multiplex ligation-dependent probe amplification. Nucleic Acids Res 2002, 30:e57
12. Hahnemann JM, Vejerslev LO: Accuracy of cytogenetic findings on chorionic villus sampling (CVS)-diagnostic consequences of CVS mosaicism and non-mosaic discrepancy in centres contributing to EUCROMIC 1986-1992. Prenat Diagn 1997, 17:801-820
13. Grati FR, Grimi B, Frascoli G, Di Meco AM, Liuti R, Milani S, Trorta A, Dulcetti F, Grosso E, Miozzo M, Maggi F, Simoni G: Confirmation of mosaicism and uniparental disomy in amniocytes, after detection of mosaic chromosome abnormalities in chorionic villi. Eur J Hum Genet 2006, 14:282-288
14. Smith K, Lowther G, Maher E, Hourihan T, Wilkinson T, Wolstenholme J: The predictive value of findings of the common aneuploidies, trisomies 13, 18 and 21, and numerical sex chromosome abnormalities at CVS: experience from the ACC U.K. Collaborative Study. Association of Clinical Cytogeneticists Prenatal Diagnosis Working Parly. Prenat Diagn 1999, 19:817-826
15. Waters JJ, Mann K. Grimsley L, Ogilvie CM, Donaghue C, Staples L Hills A, Adams T, Wilson C: Complete discrepancy between QF-PCR analysis of uncultured villi and karyotyping of cultured cells in the prenatal diagnosis of trisomy 21 in three CVS. Prenat Diagn 2006. 27:332-339
16. Allen SK, Luharia A, Gould CP, MacDonald F, Larkins S. Davison EV. Rapid prenatal diagnosis of common trisomies: discordant results between QF-PCR analysis and karyotype analysis on long-term culture for a case of trisomy 18 detected in CVS. Prenat Diagn 2006, 26:1160-1167
17. Mori M, Ishikawa G, Luo SS, Mishima T, Goto T, Robinson JM, Matsubara S, Takeshita T, Kataoka H, Takizawa T: The cytotrophoblast layer of human chorionic villi becomes thinner but maintains its structural integrity during gestation. Biol Reprod 2007, 76:164-172
18. Schrijver I, Cherny SC, Zehnder JL: Testing for maternal cell contamination in prenatal samples. A comprehensive survey of current diagnostic practices in 35 molecular diagnostic laboratories. J Mol Diagn 2007, 9:394-400
19. Shaffer LG, Bui TH: Molecular cytogenetic and rapid aneuploidy detection methods in prenatal diagnosis. Am J Med Genet C Semin Med Genet 2007, 145:87-98
20. Faas BHW, Nillesen W, Vermeer S, Olde Weghuis D, de Leeuw N, Smits APT van Ravenswaaij-Arts CMA: 2008. Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. Eur J Med Genet 2008, 51:511-519
21. Ahn JW, Ogilvie CM, Welch A, Thomas H, Madula R, Hills A, Donaghue C, Mann K: Detection of subtelomere imbalance using MLPA: validation, development of an analysis protocol, and application in a diagnostic centre. BMC Med Genet 2007, 8:9
22. Leung WC, Waters JJ, 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, 24:790-795
23. Shaffer LG, Bejjani BA: A cytogeneticist's perspective on genomic microarrays. Hum Reprod Update 2004, 10:221-226
24. Rickman L, Fiegler H, Shaw-Smith C, Nash R, Cirigliano V, Voglino G. Ng BL, Scott C, Whittaker J, Adinolfi M, Carter NP, Bobrow M: Prenatal detection of unbalanced chromosomal rearrangements by array CGH. J Med Genet 2006, 43:353-361
25. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, Fiegler H, Shapero MH, Carson AR, Chen W, Cho EK, Dallaire S. Freeman JL, González JR, Gratacòs M, Huang J, Kalaitzopoulos D. Komura D, MacDonald JR, Marshall CR, Mei R, Montgomery L, Nishimura K, Okamura K, Shen F, Somerville MJ, Tchinda J, Valsesia A. Woodwark C, Yang F. Zhang J, Zerjal T, Zhang J. Armengol L, Conrad DF, Estivill X, Tyler-Smith C, Carter NP, Aburatani H, Lee C. Jones KW, Scherer SW. Hurles ME: Global variation in copy number in the human genome. Nature 2006, 23:444-454
26. Gerdes T, Kirchhoff M, Lind AM, Larsen GV, 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