Simultaneous detection of trisomies 13, 18, and 21 with multiplex ligation-dependent probe amplification - Based real-time PCR

Clinical Chemistry

Volumn 56, Issue 9, 2010, Pages 1451-1459

  Guo, Qiwei ^a,b   Zhou, Yulin ^b   Wang, Xiaobo ^a   Li, Qingge ^a  

^a XIAMEN UNIVERSITY   (China)

^b Xiamen Maternity and Child Health Care Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA;

ARTICLE; CHROMOSOME; CONTROLLED STUDY; DNA ISOLATION; FETUS; HUMAN; INTERMETHOD COMPARISON; KARYOTYPING; MAJOR CLINICAL STUDY; MULTIPLEX LIGATION DEPENDENT PROBE AMPLIFICATION BASED REAL TIME POLYMERASE CHAIN REACTION; REAL TIME POLYMERASE CHAIN REACTION; TRISOMY 13; TRISOMY 18; TRISOMY 21;

CHROMOSOMES, HUMAN, PAIR 13; CHROMOSOMES, HUMAN, PAIR 18; DOWN SYNDROME; FEMALE; HUMANS; KARYOTYPING; MOLECULAR DIAGNOSTIC TECHNIQUES; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OLIGONUCLEOTIDE PROBES; POLYMERASE CHAIN REACTION; PREGNANCY; PRENATAL DIAGNOSIS; REPRODUCIBILITY OF RESULTS; SENSITIVITY AND SPECIFICITY; TRISOMY;

EID: 77956355319     PISSN: 00099147     EISSN: 15308561     Source Type: Journal    
DOI: 10.1373/clinchem.2010.146472     Document Type: Article

References (33)

1. Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med 2009;360: 2556-62.
2. Trask BJ. Fluorescence in situ hybridization: applications in cytogenetics and gene mapping. Trends Genet 1991;7:149-54.
3. Dudarewicz L, Holzgreve W, Jeziorowska A, Jakubowski L, Zimmermann B. Molecular methods for rapid detection of aneuploidy. J Appl Genet 2005;46:207-15.
4. Mansfield ES. Diagnosis of Down syndrome and other aneuploidies using quantitative polymerase chain reaction and small tandem repeat polymorphisms. Hum Mol Genet 1993;2:43-50.
5. 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;17:115-8.
6. Pertl B, Yau SC, Sherlock J, Davies AF, Mathew CG, Adinolfi M. Rapid molecular method for prenatal detection of Down's syndrome. Lancet 1994;343:1197-8. (Pubitemid 24147557)
7. Bili C, Divane A, Apessos A, Konstantinos T, Apostolos A, Ioannis B, et al. Prenatal diagnosis of common aneuploidies using quantitative fluorescent PCR. Prenat Diagn 2002;22:360-5. (Pubitemid 34538561)
8. 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;358:1057-61. (Pubitemid 32925128)
9. Cirigliano V, Lewin P, Szpiro-Tapies S, Fuster C, Adinolfi M. Assessment of new markers for the rapid detection of aneuploidies by quantitative fluorescent PCR (QF-PCR). Ann Hum Genet 2001; 65:421-7. (Pubitemid 33149887)
10. Schmidt W, Jenderny J, Hecher K, Hackeloer BJ, Kerber S, Kochhan L, Held KR. Detection of aneuploidy in chromosomes X, Y, 13, 18 and 21 by QF-PCR in 662 selected pregnancies at risk. Mol Hum Reprod 2000;6:855-60.
11. Mann K, Donaghue C, Fox SP, Docherty Z, Ogilvie CM. Strategies for the rapid prenatal diagnosis of chromosome aneuploidy. Eur J Hum Genet 2004; 12:907-15. (Pubitemid 39462124)
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;40:907-12. (Pubitemid 38117541)
13. Zimmermann B, Holzgreve W, Wenzel F, Hahn S. Novel real-time quantitative PCR test for trisomy 21. Clin Chem 2002;48:362-3. (Pubitemid 34107277)
14. Pont-Kingdon G, Lyon E. Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of singlenucleotide polymorphism loci. Clin Chem 2003; 49:1087-94. (Pubitemid 36751095)
15. Nagy B, Ban Z, Lazar L, Nagy RG, Papp C, Toth-Pal E, Papp Z. Rapid determination of trisomy 21 from amniotic fluid cells using single-nucleotide polymorphic loci. Prenat Diagn 2005;25:1138-41. (Pubitemid 43016296)
16. 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.
17. 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;13:171-5.
18. 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;25:1032-9. (Pubitemid 41745683)
19. Diego-Alvarez D, Rodriguez de Alba M, Cardero-Merlo R, Diaz-Recasens J, Ayuso C, Ramos C, Lorda-Sanchez I. MLPA as a screening method of aneuploidy and unbalanced chromosomal rearrangements in spontaneous miscarriages. Prenat Diagn 2007;27:765-71. (Pubitemid 47242408)
20. Li Q, Luan G, Guo Q, Liang J. A new class of homogeneous nucleic acid probes based on specific displacement hybridization. Nucleic Acids Res 2002;30:E5.
21. Bewick V, Cheek L, Ball J. Statistics review 9: one-way analysis of variance. Crit Care 2004;8: 130-6. (Pubitemid 38436421)
22. Redon R, Ishikawa S, Fitch KR, Feuk L, Perry GH, Andrews TD, et al. Global variation in copy number in the human genome. Nature 2006;444: 444-54.
23. Wong KK, deLeeuw RJ, Dosanjh NS, Kimm LR, Cheng Z, Horsman DE, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80: 91-104.
24. Lee HH, Chang JG, Lin SP, Chao HT, Yang ML, Ng HT. Rapid detection of trisomy 21 by homologous gene quantitative PCR (HGQ-PCR). Hum Genet 1997;99:364-7.
25. Deutsch S, Choudhury U, Merla G, Howald C, Sylvan A, Antonarakis SE. Detection of aneuploidies by paralogous sequence quantification. J Med Genet 2004;41:908-15.
26. Hook EB, Warburton D. The distribution of chromosomal genotypes associated with Turner's syndrome: livebirth prevalence rates and evidence for diminished fetal mortality and severity in genotypes associated with structural X abnormalities or mosaicism. Hum Genet 1983;64:24-7.
27. Kalousek DK, Barrett IJ, McGillivray BC. Placental mosaicism and intrauterine survival of trisomies 13 and 18. Am J Hum Genet 1989;44:338-43.
28. Modi D, Kher A, Parikh A, Bhartiya D. Chromosomal mosaicism: evaluation by fluorescence in situ hybridization. Med Sci Res 1999;27:813-5.
29. Modi D, Berde P, Bhartiya D. Down syndrome: a study of chromosomal mosaicism. Reprod Biomed Online 2003;6:499-503.
30. Dhallan R, Guo X, Emche S, Damewood M, Bayliss P, Cronin M, et al. A non-invasive test for prenatal diagnosis based on fetal DNA present in maternal blood: a preliminary study. Lancet 2007; 369:474-81.
31. Benachi A, Yamgnane A, Olivi M, Dumez Y, Gautier E, Costa JM. Impact of formaldehyde on the in vitro proportion of fetal DNA in maternal plasma and serum. Clin Chem 2005;51:242-4.
32. Lo YM, Tein MS, Lau TK, Haines CJ, Leung TN, Poon PM, et al. Quantitative analysis of fetal DNA in maternal plasma and serum: implications for noninvasive prenatal diagnosis. Am J Hum Genet 1998;62:768-75.
33. Sorensen KM, Andersen PS, Larsen LA, Schwartz M, Schouten JP, Nygren AO. Multiplex ligation-dependent probe amplification technique for copy number analysis on small amounts of DNA material. Anal Chem 2008;80:9363-8.