QUANTITATIVE FLUORESCENT POLYMERASE CHAIN REACTION (QFPCR) IN THE PRENATAL AND POSTNATAL DIAGNOSIS OF THE MOST FREQUENT ANEUPLOIDIES
Macek M Sr1,*, Krebsova A1,2, Brou_ková M1, Matj_ková M1, Machatková M1, Diblík J1, Sperling K2, Vorsanova S3, Kutsev S4, Zerova S5, Arbuzova S6, Chudoba D1, Novotná D1
*Corresponding Author: Associate Professor Milan Macek, Sr., MD, PhD, Centre of Reproductive Genetics, Institute of Biology and Medical Genetics, University Hospital Motol, Charles University, 2nd Medical School, V uvalu 84, Prague, CZ 150 06, Czech Republic; Tel.: +4202-2443-3534; Fax: +4202-2443-3525; E-mail: pavel.roubic@lfmotol.cuni.cz
page: 87

REFERENCES

1. Chen CP, Chern SR, Wang W. Rapid determina­tion of zygosity and common aneuploidies from amniotic fluid cells using quantitative fluorescent polymerase chain reaction following genetic amniocentesis in multiple preg­nancies. Hum Reprod 2000; 15(4): 929-934.

2. Cirigliano V, Sherlock J, Conway G, Quilter C, Rodeck C, Adinolfi M. Rapid detection of chromosomes X and Y aneuploidies by quantitative fluorescent PCR. Prenat Diagn 1999; 19(12): 1099-1103.

3. Findlay I, Toth T, Matthews P, Marton T, Quirke P, Papp Z. Rapid trisomy diagnosis (21, 18, and 13) using fluorescent PCR and short tandem repeats: applications for prenatal diagnosis and preimplantation genetic diagno­sis. J Assist Reprod Genet 1998; 15(5): 266-275.

4. Pertl B, Weitgasser U, Kopp S, Kroisel PM, Sher­lock J, Adinolfi M. Rapid detection of trisomies 21 and 18 and sexing by quantitative fluorescent multiplex PCR. Hum Genet 1996; 98(1): 55-59.

5. Pertl B, Kopp S, Kroisel PM, Hausler M, Sherlock J, Winter R, Adinolfi M. Quantitative fluorescence poly­merase chain reaction for the rapid prenatal detection of common aneuploidies and fetal sex. Am J Obstet Gynecol 1997; 177(4): 899-906.

6. Pertl B, Pieber D, Lercher-Hartlieb A, Orescovic I, Haeusler M, Winter R, Kroisel P, Adinolfi M. Rapid pre­natal diagnosis of aneuploidy by quantitative fluorescent PCR on fetal samples from mothers at high risk for chro­mosome disorders. Mol Hum Reprod 1999; 5(12): 1176-1179.

7. Toth T, Findlay I, Papp C, Toth-Pal E, Marton T, Nagy B, Quirke P, Papp Z. Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent poly­merase chain reaction. Prenat Diagn 1998; 18(7): 669-674.

8. Toth T, Findlay I, Papp C, Toth-Pal E, Marton T, Nagy B, Quirke P, Papp Z. Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. J Med Genet 1998; 35(2): 126-129.

9. Pertl B, Kopp S, Kroisel PM, Tului L, Brambati B, Adinolfi M. Rapid detection of chromosome aneuploidies by quantitative fluorescence PCR: first application on 247 chorionic villus samples. J Med Genet 1999; 36(4): 300-303.

10. Jauniaux E, Cirigliano V, Adinolfi M. Very early prenatal diagnosis on coelomic cells using quantitative fluorescent polymerase chain reaction. Reprod Biomed Online 2003; 6(4): 494-498.

11. Bussani C, Cioni R, Scarselli B, Barciulli F, Buc­ciantini S, Simi P, Fogli A, Scarselli G. Strategies for the isolation and detection of fetal cells in transcervical sam­ples. Prenat Diagn 2002; 22(12): 1098-1101.

12. Adinolfi M, Sherlock J, Pertl B. Rapid detection of selected aneuploidies by quantitative fluorescent PCR. BioEssays 1995; 17(7): 661-664.

13. Adinolfi M, Sherlock J. Fetal cells in transcervical samples at an early stage of gestation. J Hum Genet 2001; 46(3): 99-104.

14. Pertl B, Sekizawa A, Samura O, Orescovic I, Rahaim PT, Bianchi DW. Detection of male and female fetal DNA in maternal plasma by multiplex fluorescent polymerase chain reaction amplification of short tandem repeats. Hum Genet 2000; 106(1): 45-49.

15. Findlay I, Taylor A, Quirke P, Frazier R, Urquhart A. DNA fingerprinting from single cells. Nature 1997; 389(6651): 555-556.

16. Sherlock J, Cirigliano V, Petrou M, Tutschek B, Adinolfi M. Assessment of diagnostic quantitative fluores­cent multiplex polymerase chain reaction assays per­formed on single cells. Ann Hum Genet 1998; 62(Pt 1): 9-23.

17. Adinolfi M, Pertl B, Sherlock J. Rapid detection of aneuploidies by microsatellite and the quantitative fluorescent polymerase chain reaction. Prenat Diagn 1997; 17(13): 1299-1311.

18. Sharma V, Guo Z, Litt M. Dinucleotide repeat polymorphism at the D18S37 locus. Hum Mol Genet 1992; 1(4): 289.


19. Ferre F. Quantitative or semi-quantitative PCR: reality versus myth. PCR Methods Appl 1992; 2(1): 1-9.

20. von Eggeling F, Freytag M, Fahsold R, Horst­hemke B, Claussen U. Rapid detection of trisomy 21 by quantitative PCR. Hum Genet 1993; 91(6): 567-570.

21. 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.

22. Mutter GL, Pomponio RJ. Molecular diagnosis of sex chromosome aneuploidy using quantitative PCR. Nu­cleic Acids Res 1991; 19(15): 4203-4207.

23. Cirigliano V, Canadas P, Plaja A, Ordonez E, Mediano C, Sanchez A, Farran I. Rapid prenatal diagnosis of aneuploidies and zygosity in multiple pregnancies by amniocentesis with single insertion of the needle and quantitative fluorescent PCR. Prenat Diagn 2003; 23(8): 629-633.

24. 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(Pt 5): 421-427.

25. Cirigliano V, Ejarque M, Canadas MP, Lloveras E, Plaja A, Perez MM, Fuster C, Egozcue J. 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.

26. Rahil H, Solassol J, Philippe C, Lefort G, Jon­veaux P. Rapid detection of common autosomal aneu­ploidies by quantitative fluorescent PCR on uncultured amniocytes. Eur J Hum Genet 2002; 10(8): 462-466.

27. Pont-Kingdon G, Lyon E. Rapid detection of aneuploidy (trisomy 21) by allele quantification combined with melting curves analysis of single-nucleotide polymor­phism loci. Clin Chem 2003; 49(7): 1087-1094.

28. Macek M, Matjekova M, Brou_kova M, Marek J, Simandlova M, Krutilkova V, Malikova M, Chudoba D, Novotna D, Kulovany E, Havlovicova M. Prenatal diag­nosis of partial trisomy 18 by quantitative fluorescent PCR (QFPCR). Eur J Hum Genet 2002; 10(Suppl 1): 285.

29. Valero R, Marfany G, Gil-Benso R, Ibanez MA, Lopez-Pajares I, Prieto F, Rullan G, Sarret E, Gonzalez-Duarte R. Molecular characterization of partial chromo­some 21 aneuploidies by fluorescent PCR. J Med Genet 1999; 36(9): 694-699.

30. Bili C, Divane A, Apessos A, Konstantinos T, Apostolos A, Ioannis B, Periklis T, Florentin L. Prenatal diagnosis of common aneuploidies using quantitative fluo­rescent PCR. Prenat Diagn 2002; 22(5): 360-365.

31. 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(2): 115-118.

32. 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(9): 855-860.

33. Horki I, Krebsovi A, Kulovanz D, Smetanovi D, Chudoba D, Potu_nkkovi P, Cerni D, Diblkk J, ?varcovi M, ?vagrovi E, Zeminkovi E, Macek M Jr, Macek M Sr. PAPP-A, free BhCG and quantitative fluorescent PCR in the early prenatal detection of chromosome aneuploidies. In: Zion B-R, Zeev S, eds. Controversies in Obstetrics, Gynecology & Infertility. Bologna: Monduzzi, 1999; 123-127.

34. Macek M Sr, Krebsova A, Horka I, Diblik J, Matejekova M, Brouekova M, Chudoba D, Hromad­nikova I, Novotna D, Havlovicova M, Kulovany E, Quan­titative fluorescent PCR (QFPCR) in the examination of microquantity of fetal cells. In: Bianchi WD, Cuckle H, Macek M Sr, eds. Fetal Cells, Fetal DNA in Maternal Blood and Early Fetal Diagnosis. Present State and Per­spectives. Prague: The Karolinum Press, 2002; 304-328.

35. Krebsova A, Brouekova M, Horka I, Matejekova M, Diblik J, Chudoba D, Novotna D, Kulovany E. Macek M Jr, Macek M Sr. Quantitative fluorescent PCR in rapid prenatal and postnatal detection of the most frequent aneu­ploidies and their parental and meiotic origin. Annales de Genetique 2001; 44(Suppl. 1): 150.

36. 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.

37. Sperling K, Pelz J, Wegner RD, Dorries A, Gruters A, Mikkelsen M. Significant increase in trisomy 21 in Berlin nine months after the Chernobyl reactor acci­dent: temporal correlation or causal relation? BMJ 1994; 309(6948): 158-162.

38. Pelz J, Sperling K. Trisomy 21 case-control sur­veillance: concept and evidence for preconceptual X-irra­diation as apotential risk factor. In: Macek M Sr, Bianchi DW, Cuckle H, eds. Early Prenatal Diagnosis, Fetal Cells and DNA in the Mother-Present State and Perspectives. 12th Fetal Workshop, Charles University, Prague, May 2001. Prague: The Karolinum Press, 2002; 398-408.

39. Savage AR, Petersen MB, Pettay D, Taft L, Allran K, Freeman SB, Karadima G, Avramopoulos D, Torfs C, Mikkelsen M, Hassold TJ, Sherman SL. Eluci­dating the mechanisms of paternal non-disjunction of chro­mosome 21 in humans. Hum Mol Genet 1998; 7(8): 1221-1227.


40. Petersen MB, Mikkelsen M. Nondisjunction in trisomy 21: origin and mechanisms. Cytogenet Cell Genet 2000; 91(1-4): 199-203.

41. Hassold T, Sherman S. Down syndrome: genetic recombination and the origin of the extra chromosome 21. Clin Genet 2000; 57(2): 95-100.




Number 22
VOL. 22(1), 2019
Number 22
VOL. 22, 2019 Accepted articles
Number 22
VOL. 22, 2019 Supplement
Number 21
VOL. 21(2), 2018
Number 21
VOL. 21 (1), 2018
Number 21
VOL. 21, 2018 Accepted articles
Number 21
VOL. 21, 2018 Supplement
Number 20
VOL. 20 (2), 2017
Number 20
VOL. 20 (1), 2017
Number 19
VOL. 19 (2), 2016
Number 19
VOL. 19 (1), 2016
Number 18
VOL. 18 (2), 2015
Number 18
VOL. 18 (1), 2015
Number 17
VOL. 17 (2), 2014
Number 17
VOL. 17 (1), 2014
Number 16
VOL. 16 (2), 2013
Number 16
VOL. 16 (1), 2013
Number 15
VOL. 15 (2), 2012
Number 15
VOL. 15, 2012 Supplement
Number 15
Vol. 15 (1), 2012
Number 14
14 - Vol. 14 (2), 2011
Number 14
The 9th Balkan Congress of Medical Genetics
Number 14
14 - Vol. 14 (1), 2011
Number 13
Vol. 13 (2), 2010
Number 13
Vol.13 (1), 2010
Number 12
Vol.12 (2), 2009
Number 12
Vol.12 (1), 2009
Number 11
Vol.11 (2),2008
Number 11
Vol.11 (1),2008
Number 10
Vol.10 (2), 2007
Number 10
10 (1),2007
Number 9
1&2, 2006
Number 9
3&4, 2006
Number 8
1&2, 2005
Number 8
3&4, 2004
Number 7
1&2, 2004
Number 6
3&4, 2003
Number 6
1&2, 2003
Number 5
3&4, 2002
Number 5
1&2, 2002
Number 4
Vol.3 (4), 2000
Number 4
Vol.2 (4), 1999
Number 4
Vol.1 (4), 1998
Number 4
3&4, 2001
Number 4
1&2, 2001
Number 3
Vol.3 (3), 2000
Number 3
Vol.2 (3), 1999
Number 3
Vol.1 (3), 1998
Number 2
Vol.3(2), 2000
Number 2
Vol.1 (2), 1998
Number 2
Vol.2 (2), 1999
Number 1
Vol.3 (1), 2000
Number 1
Vol.2 (1), 1999
Number 1
Vol.1 (1), 1998

 

 


 About the journal ::: Editorial ::: Subscription ::: Information for authors ::: Contact
 Copyright © Balkan Journal of Medical Genetics 2006