RAPID AND NON INVASIVE PRENATAL DIAGNOSIS
Madjunkova S1, Sukarova-Stefanovska E1, Kocheva S2,Maleva I1, Noveski P1,
Kiprijanovska S1, Stankova K3,Dimcev P4, Madjunkov M5, Plaseska-Karanfilska D1,*
*Corresponding Author: Professor Dr. Dijana Plaseska-Karanfilska, Research Centre for Genetic
Engineering and Biotechnology “Georgi D. Efremov,” Macedonian Academy of Sciences and Arts, Krste
Misirkov 2, Skopje 1000, Republic of Macedonia; Tel: +389(0)23235-410; Fax: +389 (0)2-3115-434;
E-mail: dijana@manu.edu.mk
page: 39
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22. Chiu RW, Chan KC, Gao Y, et al. Noninvasive prenatal
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23. Tsui NB, Akolekar R, Chiu RW, et al. Synergy of total
PLAC4 RNA concentration and measurement of
the RNA single-nucleotide polymorphism allelic ratio
for the noninvasive prenatal detection of trisomy
21. Clin Chem. 2010; 56(1): 73-81.
24. Tong YK, Chiu RW, Akolekar R, et al. Epigeneticgenetic
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25. Chiu RW, Chim SS, Wong IH, et al. Hypermethylation
of RASSF1A in human and rhesus placentas. Am J
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26. Chim SS, Jin S, Lee TY, et al. Systematic search for
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test for fetal trisomy 21. Clin Chem. 2008; 54(3):
500-511.27. Brown L, Brown G, Vacek P, Brown S. Aneuploidy
detection in mixed DNA samples by methylationsensitive
amplification and microarray analysis. Clin
Chem. 2010; 56(5): 805-813.
28. Palomaki GE, Kloza EM, Lambert-Messerlian GM,
et al. DNA sequencing of maternal plasma to detect
Down syndrome: an international clinical validation
study. Genet Med. 2011; 13(11): 913-920.
29. Chiu RW, Akolekar R, Zheng YW, et al. Noninvasive
prenatal assessment of trisomy 21 by multiplexed
maternal plasma DNA sequencing: large
scale validity study. BMJ. 2011; 342:c7401.
30. Kocheva S, Trivodalieva S, Plaseska-Karanfilska D,
Vlaski-Jekic S, Kuturec M, Efremov GD. Prenatal diagnosis
in Macedonian Duchenne muscular distrophy
families. Balkan J Med Genet. 2008; 11(2): 59-63.
31. Kocheva SA, Plaseska-Karanfilska D, Trivodalieva
S, Kuturec M, Vlaski-Jekic S, Efremov GD. Prenatal
diagnosis of spinal muscular atrophy in Macedonian
families. Genet Test. 2008; 12(3): 391-393.
32. Arsovska S, Dimcev P, Kaeva M, Efremov GD, Plaseska-
Karanfilska D. Rapid prenatal diagnosis of common aneuploidies
by quantitative fluorescent polymerase chain
reaction. Proceedings of the 5th Balkan Meeting on
Human Genetics, Sofia, Bulgaria, August 28-September
1, 2002; 145.
33. Plaseska-Karanfilska D, Talaganova S, Trivodalieva
S, Efremov GD. Prenatal diagnosis of aneuploidies
of chromosomes 13, 18, 21, X and Y by QFPCR
in the Republic of Macedonia. Proceedings of
the European Human Genetics Conference, Nice,
France, June 16-19, 2007. Eur J Hum Genet. 2007;
140.
34. Plaseska-Karanfilska D, Madjunkova S, Maleva I,
Kiprijanovska S. Rapid prenatal diagnosis of common
chromosome aneuploidies using quantitative
fluorescent (QF)-PCR: 10 years experience in a center
from the Republic of Macedonia. Proceedings of
the 12th International Congress of Human Genetics,
Montreal, Canada, October 11-15, 2011; 1369W.
35. Talaganova S, Trivodalieva S, Arsovska S, Kaeva M,
Efremov GD, Plaseska-Karanfilska D. The parental
and meiotic origin of extra chromosome 21 in Down
syndrome patients. Proceedings of the 7th Balkan
Meeting on Human Genetics, Skopje, Macedonia,
August 31-September 2, 2006. Balkan J Med Genet.
2006; 118.
36. Kiprijanovska S, Trivodalieva S, Gefremov GD,
Plaseska-Karanfilska D. The parental origin of chromosome
aneuploidies. Proceedings of the 8th Balkan
Meeting of Human Genetics, Cavtat, Croatia, May
14-17, 2009; 23.
37. Davalieva K, Dimcev P, Efremov GD, Plaseska-
Karanfilska D. Non-invasive fetal sex determination
using real-time PCR. J Matern Fetal Neonatal Med.
2006; 19(6): 337-342.
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