Year 2015, Volume 45, Issue 6, Pages 1263 - 1267 2015-12-04

Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis
Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis

HAKAN SAVLI [1] , SEDA EREN KESKİN [2] , NACİ ÇİNE [3]

185 540

Background/aim: To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. Materials and methods: This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. Results: Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly. Conclusion: The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.
Background/aim: To investigate the diagnostic value of bacterial artificial chromosome (BAC)-based array comparative genomic hybridization (CGH) and chromosome analysis in prenatal diagnosis. Materials and methods: This study included the chromosome analysis and BAC-based array CGH analysis of 140 amniocentesis samples with prenatal diagnosis indications. Results: Karyotype analysis showed trisomy 21 in 4 patients, trisomy 18 in 5 patients, monosomy X in 1 patient, and other anomalies in 3 patients. The BAC-based array CGH analysis showed 4 patients with trisomy 21, 4 patients with trisomy 18, and 1 patient with monosomy X as a numerical chromosome anomaly, while partial duplication was observed in chromosome 14 in 1 case as a structural anomaly. Conclusion: The array CGH is the most effective method available to complement cases where chromosome analysis, a gold standard in prenatal diagnosis, proves to be insufficient. Considering the inherent limitations of both methods, complementary features should be introduced in order to be able to give the most accurate data at the right time.
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Primary Language tr
Journal Section Articles
Authors

Author: HAKAN SAVLI

Author: SEDA EREN KESKİN

Author: NACİ ÇİNE

Dates

Publication Date: December 4, 2015

Bibtex @ { tbtkmedical149009, journal = {Turkish Journal of Medical Sciences}, issn = {1300-0144}, eissn = {1303-6165}, address = {TUBITAK}, year = {2015}, volume = {45}, pages = {1263 - 1267}, doi = {}, title = {Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis}, key = {cite}, author = {SAVLI, HAKAN and KESKİN, SEDA EREN and ÇİNE, NACİ} }
APA SAVLI, H , KESKİN, S , ÇİNE, N . (2015). Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis. Turkish Journal of Medical Sciences, 45 (6), 1263-1267. Retrieved from http://dergipark.org.tr/tbtkmedical/issue/12391/149009
MLA SAVLI, H , KESKİN, S , ÇİNE, N . "Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis". Turkish Journal of Medical Sciences 45 (2015): 1263-1267 <http://dergipark.org.tr/tbtkmedical/issue/12391/149009>
Chicago SAVLI, H , KESKİN, S , ÇİNE, N . "Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis". Turkish Journal of Medical Sciences 45 (2015): 1263-1267
RIS TY - JOUR T1 - Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis AU - HAKAN SAVLI , SEDA EREN KESKİN , NACİ ÇİNE Y1 - 2015 PY - 2015 N1 - DO - T2 - Turkish Journal of Medical Sciences JF - Journal JO - JOR SP - 1263 EP - 1267 VL - 45 IS - 6 SN - 1300-0144-1303-6165 M3 - UR - Y2 - 2019 ER -
EndNote %0 Turkish Journal of Medical Sciences Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis %A HAKAN SAVLI , SEDA EREN KESKİN , NACİ ÇİNE %T Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis %D 2015 %J Turkish Journal of Medical Sciences %P 1300-0144-1303-6165 %V 45 %N 6 %R %U
ISNAD SAVLI, HAKAN , KESKİN, SEDA EREN , ÇİNE, NACİ . "Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis". Turkish Journal of Medical Sciences 45 / 6 (December 2015): 1263-1267.
AMA SAVLI H , KESKİN S , ÇİNE N . Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis. Turkish Journal of Medical Sciences. 2015; 45(6): 1263-1267.
Vancouver SAVLI H , KESKİN S , ÇİNE N . Investigation of the diagnostic value of chromosome analysis and bacterial artificial chromosome-based array comparative genomic hybridization in prenatal diagnosis. Turkish Journal of Medical Sciences. 2015; 45(6): 1267-1263.