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Page 64
Biochemistry & Molecular Biology Journal
ISSN: 2471-8084
Internat i ona l Conference on
Biotechnology, Biomarkers
& Systems Biology
M a r c h 0 4 - 0 5 , 2 0 1 9
Am s t e r d a m , N e t h e r l a n d s
Biotechnology, Biomarkers & Systems Biology 2019
T
hanks to scientific developments, detection of many common chromosomal anomalies in the prenatal period has great
importance on mother and baby health. Next-generation sequencing technology provides early detection and diagnosis in
many medical situations. In this study, Nifty Test (noninvasive fetal trisomy) based on Next Generation Sequencing technology
is used to determine fetal chromosomal aneuploidies in the prenatal period. NIFTY (noninvasive fetal trisomy) Test is a kind of
the NIPD (noninvasive prenatal diagnosis) tests which determine common trisomy abnormalities (T21, T13, T18) along with
detection of 16 different chromosomal abnormalities in fetus chromosomes from cfDNA. The test was performed by using 5-10
ml peripheral blood samples from pregnant women. Wet-lab steps of the test are formed from plasma separation, DNA isolation,
library preparation, and sequencing. This part of the test was performed in Turkey while sequencing data results were analyzed
and reported by BGI (Shenzhen, China). Between 2013-2018 (until April), Nifty Test was studied on approximately 15.500
pregnant women samples aged 17-57 years in Turkey. 15.250 of the Nifty Test results were negative. High risk was detected in
approximately 350 patients and suggested to be directed to invasive prenatal diagnosis, thus confirming the Nifty test results.
In addition to detection of fetal aneuploidies by Nifty test, maternal cancer was detected in two of the patients. The studies and
research for these two cases continue in communication with BGI and patients’ physicians. As a result of this study, valuable
statistical data were obtained based on patients profiles and it has been indicated that preferability of NIFTY test has been
increasing according to other biochemical-conventional tests and competing NIPD tests in Turkey and near countries because of
its high accuracy, sensitivity and specificity ratio.
nurseda.kahveci@genoks.com.trDetermination of common chromosomal
abnormalities with NIFTY test (non-invasive fetal
trisomy test) in Turkey
Saylı A, Akdeniz E, Araz I, Kahvecı N, Kokturk G, Ture N, Bektas
M, Serım G, Bılgın Z and Ozdemır D
Genoks Genetic Diagnostic Center, Turkey
Biochem Mol biol J 2019, Volume:5
DOI: 10.21767/2471-8084-C1-024