Volume 12, Issue 4 (5-2014)                   IJRM 2014, 12(4): 263-0 | Back to browse issues page

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Omrani M D, Azizi F, Rajabibazl M, Safavi Naini N, Omrani S, Mona Abbasi A et al . Can we rely on the multiplex ligation-dependent probe amplification method (MLPA) for prenatal diagnosis?. IJRM. 2014; 12 (4) :263-0
URL: http://journals.ssu.ac.ir/ijrmnew/article-1-527-en.html
1- Department of Clinical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
2- Department of Clinical Biochemistry, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
3- Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran
4- Edward Via College of Osteopathic Medicine, Virginia, USA
5- Feto-Maternal Unit, Mahdieh Hospital, Shahid Beheshti, University, Tehran, Iran , Soraya_saleh2000@yahoo.co.uk
Abstract:   (1031 Views)
Background: The major aneuploidies that are diagnosed prenatally involve the autosomal chromosomes 13, 18, and 21, as well as sex chromosomes, X and Y. Because multiplex ligation-dependent probe amplification (MLPA) is rapid and non-invasive, it has replaced traditional culture methods for the screening and diagnosis of common aneuploidies in some countries.
Objective:  To evaluate the sensitivity and specificity of MLPA in a cross-sectional descriptive study for the detection of chromosomal aneuploidies in comparison to other methods.
Materials and Methods:  Genomic DNA was extracted from the peripheral blood samples of 10 normal controls and the amniotic fluid of 55 patients. Aneuploidies screening of chromosomes 13, 18, 21, X and Y were carried out using specific MLPA probe mixes (P095-A2). For comparison purposes, samples were also tested by Quantitative Fluorescent-PCR (QF-PCR) and routine chromosomal culture method.
Results:  Using this specific MLPA technique and data-analyzing software (Genemarker v1.85), one case was diagnosed with 45, X (e.g. Monosomy X or Turner’s Syndrome), and the remaining 54 cases revealed normal karyotypes. These results were concordant with routine chromosomal culture and QF-PCR findings.
Conclusion:  The experiment demonstrates that MLPA can provide a rapid and accurate clinical method for prenatal identification of common chromosomal aneuploidies with 100% sensitivity and 100% specificity.
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Type of Study: Original Article |

References
1. Yan JB, Xu M, Xiong C, Zhou DW, Ren ZR, Huang Y, et al. Rapid screening for chromosomal aneuploidies using array-MLPA. BMC Med Genet 2011; 12: 68. [DOI:10.1186/1471-2350-12-68]
2. Yusuf RZ, Naeem R. Cytogenetic abnormalities in products of conception: a relationship revisited. Am J Reprod Immunol 2004; 52: 88-96. [DOI:10.1111/j.1600-0897.2004.00196.x]
3. Hochstenbach R, Meijer J, van de Brug J, Vossebeld-Hoff I, Jansen R, van der Luijt RB, et al. Rapid detection of chromosomal aneuploidies in uncultured amniocytes by multiplex ligation-dependent probe amplification (MLPA). Prenat Diagn 2005; 25: 1032-1039. [DOI:10.1002/pd.1247]
4. Nicolaides KH. Screening for chromosomal defects. Ultrasound Obstet Gynecol 2003; 21: 313-321. [DOI:10.1002/uog.128]
5. Boormans EM, Birnie E, Oepkes D, Galjaard RJ, Schuring-Blom GH, van Lith JM, et al. Comparison of multiplex ligation-dependent probe amplification and karyotyping in prenatal diagnosis. Obstet Gynecol 2010; 115: 297-303. [DOI:10.1097/AOG.0b013e3181cbc652]
6. Los FJ, van Den Berg C, Wildschut HI, Brandenburg H, den Hollander NS, Schoonderwaldt EM, et al. The diagnostic performance of cytogenetic investigation in amniotic fluid cells and chorionic villi. Prenat Diagn 2001; 21: 1150-1158. [DOI:10.1002/pd.194]
7. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Nørgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet 1986; 1: 1287-1293. [DOI:10.1016/S0140-6736(86)91218-3]
8. Golbus MS, Loughman WD, Epstein CJ, Halbasch G, Stephens JD, Hall BD. Prenatal genetic diagnosis in 3000 amniocenteses. N Engl J Med 1979; 300: 157-163. [DOI:10.1056/NEJM197901253000402]
9. Van Zwieten MC, Willems DL, Litjens LL, Schuring-Blom HG, Leschot N. How unexpected are unexpected findings in prenatal cytogenetic diagnosis? A literature review. Eur J Obstet Gynecol Reprod Biol 2005; 120: 15-21. [DOI:10.1016/j.ejogrb.2004.10.005]
10. Ogilvie CM, Donaghue C, Fox SP, Docherty Z, Mann K. Rapid prenatal diagnosis of aneuploidy using quantitative fluorescence-PCR (QF-PCR). J Histochem Cytochem 2005; 53: 285-288. [DOI:10.1369/jhc.4B6409.2005]
11. 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. [DOI:10.1038/sj.ejhg.5201307]
12. 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. [DOI:10.1136/jmg.40.12.907]
13. Brothman AR, Persons DL, Shaffer LG. Nomenclature evolution: Changes in the ISCN from the 2005 to the 2009 edition. Cytogenet Genome Res 2009; 127: 1-4. [DOI:10.1159/000279442]
14. Van Opstal D, Boter M, de Jong D, van den Berg C, Brüggenwirth HT, Wildschut HI, 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. [DOI:10.1038/ejhg.2008.161]
15. Lionel Willatt, Sian M. Morgan. Shaffer LG, Slovak ML, Campbell LJ. An international system for human cytogenetic nomenclature. Hum Genet 2012; 126: 603-604. [DOI:10.1007/s00439-009-0726-6]
16. Sellner LN, Taylor GR. MLPA and MAPH: new techniques for detection of gene deletions. Hum Mutat 2004; 23: 413-419. [DOI:10.1002/humu.20035]
17. Kassirer JP. Incorporating patients' preferences into medical decisions. N Engl J Med 1994; 330: 1895-1896. [DOI:10.1056/NEJM199406303302611]
18. Ryan M, Diack J, Watson V, Smith N. Rapid prenatal diagnostic testing for Down syndrome only or longer wait for full karyotype: the views of pregnant women. Prenat Diagn 2005; 25: 1206-1211. [DOI:10.1002/pd.1309]
19. Kooper AJ, Faas BH, Kater-Baats E, Feuth T, Janssen JC, van der Burgt I, 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. [DOI:10.1002/pd.2111]
20. Kooper AJ, Faas BH, Feuth T, Creemers JW, Zondervan HH, Boekkooi PF, et al. Detection of chromosome aneuploidies in chorionic villus samples by multiplex ligation-dependent probe amplification. J Molec Diagn 2009; 11: 17-24. [DOI:10.2353/jmoldx.2009.070140]
21. Bui TH. Prenatal cytogenetic diagnosis: gone FISHing, BAC soon! Ultrasound Obstet Gynecol 2007; 30: 247-251. [DOI:10.1002/uog.5142]
22. Kuo WL, Tenjin H, Segraves R, Pinkel D, Golbus MS, Gray J. Detection of aneuploidy involving chromosomes 13, 18, or 21, by fluorescence in situ hybridization (FISH) to interphase and metaphase amniocytes. Am J Hum Genet 1991; 49:112-119.
23. Philip J, Bryndorf T, Christensen B. Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH). Prenat Diagn 1994; 14: 1203-1215. [DOI:10.1002/pd.1970141306]
24. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004; 12: 907-915. [DOI:10.1038/sj.ejhg.5201224]
25. Cirigliano V, Voglino G, Marongiu A, Ca-adas P, Ordo-ez E, Lloveras E, et al. Rapid prenatal diagnosis by QF-PCR: evaluation of 30,000 consecutive clinical samples and future applications. Ann N Y Acad Sci 2006; 1075: 288-298. [DOI:10.1196/annals.1368.039]
26. Adinolfi M, Sherlock J, Pertl B. Rapid detection of selected aneuploidies by quantitative fluorescent PCR. Bioessays 1995; 17: 661-664. [DOI:10.1002/bies.950170712]
27. Kozlowski P, Jasinska AJ, Kwiatkowski DJ. New applications and developments in the use of multiplex ligation-dependent probe amplification. Electrophoresis 2008; 29: 4627-4636. [DOI:10.1002/elps.200800126]
28. Sparkes R, Johnson JA, Langlois S, Wilson RD, Allen V, Blight C, et al. New molecular techniques for the prenatal detection of chromosomal aneuploidy. J Obstet Gynaecol Can 2008; 30: 617-627. [DOI:10.1016/S1701-2163(16)32896-1]

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