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Original Article

Multiplex ligation-dependent probe amplification (MLPA): a reliable alternative for fetal chromosome analysis?

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Pages 1383-1386 | Received 25 Jul 2011, Accepted 21 Oct 2011, Published online: 06 Dec 2011

References

  • Witters I, Devriendt K, Legius E, Matthijs G, Van Schoubroeck D, Van Assche FA, Fryns JP. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn 2002;22:29–33.
  • Levett LJ, Liddle S, Meredith R. A large-scale evaluation of amnio-PCR for the rapid prenatal diagnosis of fetal trisomy. Ultrasound Obstet Gynecol 2001;17:115–118.
  • Mann K, Fox SP, Abbs SJ, Yau SC, Scriven PN, Docherty Z, Ogilvie CM. 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;358:1057–1061.
  • Chitty LS, Kagan KO, Molina FS, Waters JJ, Nicolaides KH. Fetal nuchal translucency scan and early prenatal diagnosis of chromosomal abnormalities by rapid aneuploidy screening: observational study. BMJ 2006;332:452–455.
  • Ogilvie CM, Lashwood A, Chitty L, Waters JJ, Scriven PN, 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;112:1369–1375.
  • 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.
  • Ahn JW, Mann K, Docherty Z, Mackie Ogilvie C. Submicroscopic chromosome imbalance in patients with developmental delay and/or dysmorphism referred specifically for Fragile X testing and karyotype analysis. Mol Cytogenet 2008;26:1–2.
  • Bunyan DJ, Eccles DM, Sillibourne J, Wilkins E, Thomas NS, Shea-Simonds J, Duncan PJ, et al. Dosage analysis of cancer predisposition genes by multiplex ligation-dependent probe amplification. Br J Cancer 2004;91:1155–1159.
  • Chiu RW, Akolekar R, Zheng YW, Leung TY, Sun H, Chan KC, Lun FM, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ 2011;342:c7401.
  • 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.
  • Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, Sinke RJ, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005;25:1032–1039.
  • 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.
  • Faas BH, Nillesen W, Vermeer S, Weghuis DO, de Leeuw N, Smits AP, van Ravenswaaij-Arts CM. Detection of cryptic subtelomeric imbalances in fetuses with ultrasound abnormalities. Eur J Med Genet 2008;51:511–519.
  • Mademont-Soler I, Morales C, Bruguera J, Madrigal I, Clusellas N, Margarit E, Sánchez A, Soler A. Subtelomeric MLPA: is it really useful in prenatal diagnosis? Prenat Diagn 2010;30:1165–1169.
  • Kjaergaard S, Sundberg K, Jørgensen FS, Rohde MD, Lind AM, Gerdes T, Tabor A, Kirchhoff M. Diagnostic yield by supplementing prenatal metaphase karyotyping with MLPA for microdeletion syndromes and subtelomere imbalances. Prenat Diagn 2010;30:995–999.
  • Grimshaw GM, Szczepura A, Hultén M, MacDonald F, Nevin NC, Sutton F, Dhanjal S. Evaluation of molecular tests for prenatal diagnosis of chromosome abnormalities. Health Technol Assess 2003;7:1–146.
  • Statham H, Solomou W, Chitty L. Prenatal diagnosis of fetal abnormality: psychological effects on women in low-risk pregnancies. Baillieres Best Pract Res Clin Obstet Gynaecol 2000;14:731–747.
  • Feenstra I, Koolen DA, Van der Pas J, Hamel BC, Mieloo H, Smeets DF, Van Ravenswaaij CM. Cryptic duplication of the distal segment of 22q due to a translocation (21;22): three case reports and a review of the literature. Eur J Med Genet 2006;49:384–395.
  • Fan HC, Blumenfeld YJ, Chitkara U, Hudgins L, Quake SR. Noninvasive diagnosis of fetal aneuploidy by shotgun sequencing DNA from maternal blood. Proc Natl Acad Sci USA 2008;105:16266–16271.
  • Sehnert AJ, Rhees B, Comstock D, de Feo E, Heilek G, Burke J, Rava RP. Optimal detection of fetal chromosomal abnormalities by massively parallel DNA sequencing of cell-free fetal DNA from maternal blood. Clin Chem 2011;57:1042–1049.
  • 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.
  • Kagan KO, Chitty LS, Cicero S, Eleftheriades M, Nicolaides KH. Ultrasound findings before amniocentesis in selecting the method of analysing the sample. Prenat Diagn 2007;27:34–39.
  • Friedman JM. High-resolution array genomic hybridization in prenatal diagnosis. Prenat Diagn 2009;29:20–28.
  • Hillman SC, Pretlove S, Coomarasamy A, McMullan DJ, Davison EV, Maher ER, Kilby MD. Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis. Ultrasound Obstet Gynecol 2011;37:6–14.
  • Battaglia A, Filippi T, Carey JC. Update on the clinical features and natural history of Wolf-Hirschhorn (4p-) syndrome: experience with 87 patients and recommendations for routine health supervision. Am J Med Genet C Semin Med Genet 2008;148C:246–251.
  • Bassett AS, Chow EW, Husted J, Weksberg R, Caluseriu O, Webb GD, Gatzoulis MA. Clinical features of 78 adults with 22q11 Deletion Syndrome. Am J Med Genet A 2005;138:307–313.
  • Yobb TM, Somerville MJ, Willatt L, Firth HV, Harrison K, MacKenzie J, Gallo N, et al. Microduplication and triplication of 22q11.2: a highly variable syndrome. Am J Hum Genet 2005;76:865–876.
  • Waggoner DJ, Chow CK, Dowton SB, Watson MS. Partial monosomy of distal 10q: three new cases and a review. Am J Med Genet 1999;86:1–5.
  • Van Buggenhout GJ, Pijkels E, Holvoet M, Schaap C, Hamel BC, Fryns JP. Cri du chat syndrome: changing phenotype in older patients. Am J Med Genet 2000;90:203–215.
  • Roback EW, Barakat AJ, Dev VG, Mbikay M, Chrétien M, Butler MG. An infant with deletion of the distal long arm of chromosome 15 (q26.1–qter) and loss of insulin-like growth factor 1 receptor gene. Am J Med Genet 1991;38:74–79.
  • McPherson E, Stetka DG. Trisomy 22 in a liveborn infant with multiple congenital anomalies. Am J Med Genet 1990;36:11–14.
  • Dhandha S, Hogge WA, Surti U, McPherson E. Three cases of tetrasomy 9p. Am J Med Genet 2002;113:375–380.
  • Frints SG, Schoenmakers EF, Smeets E, Petit P, Fryns JP. De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly. Am J Med Genet 1998;75:153–158.
  • Yong PJ, Barrett IJ, Kalousek DK, Robinson WP. Clinical aspects, prenatal diagnosis, and pathogenesis of trisomy 16 mosaicism. J Med Genet 2003;40:175–182.
  • Schinzel A. Tetrasomy 12p (Pallister-Killian syndrome). J Med Genet 1991;28:122–125.
  • Bischoff FZ, Zenger-Hain J, Moses D, Van Dyke DL, Shaffer LG. Mosaicism for trisomy 12: four cases with varying outcomes. Prenat Diagn 1995;15:1017–1026.
  • Ariel I, Lerer I, Yagel S, Cohen R, Ben-Neriah Z, Abeliovich D. Trisomy 2: confined placental mosaicism in a fetus with intrauterine growth retardation. Prenat Diagn 1997;17:180–183.

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