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During the last decade, developments in the science of genetics and enormous advances in genetic technologies have altered our capability to understand diseases, make diagnoses and provide effective treatments.

Providing screening for the most common trisomies present at birth, as well as testing options for sex chromosomal aneuploidies and chromosomal deletions, NIFTY® provides a significantly stronger risk indication than traditional screening procedures. As of 2015, over 600,000 NIFTY® tests have been carried out worldwide.

Transforming the world of prenatal testing, the advent of new DNA-based non-invasive prenatal testing (NIPT) has introduced a highly accurate screening strategy for fetal anueploidy. The NIFTY® test (Non-Invasive Fetal TrisomY test) was the first NIPT to enter clinical testing in 2010 and has been validated by a study on nearly 147,000 pregnancies.

Reearchers from Baylor College of Medicine and the Chinese University of Hong Kong have published a study titled “Accurate Description of DNA-Based Noninvasive Prenatal Screening” in The New England Journal of Medicine. The study found that BGI’s NIFTY test has the highest true positive rate and the lowest false positive rate compared to all other NIPTs included in the study.

Testing services for trisomy conditions 21, 18 and 13 are available for twin pregnancies, egg donor pregnancies and IVF pregnancies. Click for more details


A: Metodoloji
1. Chiu RW, et al. Non-invasive prenatal assessment of trisomy 21 by multiplexed maternal plasma DNA sequencing: large scale validity study. BMJ. 2011; 342:c7401, doi:10.1136/bmj.c7401.
2. Chen EZ, et al. Non-invasive prenatal diagnosis of fetal trisomy 18 and trisomy 13 by maternal plasma DNA sequencing. PLoS One. 2011;6(7):e21791. doi:10.1371/journal.pone.0021791.
3. Dan S, et al. Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS One. 2012;7(2):e27835.
4. Fuman Jiang, et al. Non-invasive Fetal Trisomy (NIFTY) test: an advanced non-invasive prenatal diagnosis methodology for fetal autosomal and sex chromosomal aneuploidies. BMC Med Genomics. 2012 Dec 1;5:57.
5. Yuan Y, et al. Feasibility study of semiconductor sequencing for noninvasive prenatal detection of fetal aneuploidy. Clin Chem. 2013 May; 59(5):846-9.
6. Chen S, et al. A method for noninvasive detection of fetal large deletions/duplications by low coverage massively parallel sequencing. Prenat Diagn. 2013 Jun;33(6):584-90.

B: Klinik Validasyon
7. Lau TK, et al. Non-invasive prenatal diagnosis of common fetal chromosomal aneuploidies by maternal plasma DNA sequencing. J Matern Fetal Neonatal Med. 2012 Aug; 25(8):1370-4.
8. Dan S, et al. Clinical application of massively parallel sequencing-based prenatal noninvasive fetal trisomy test for trisomies 21 and 18 in 11,105 pregnancies with mixed risk factors. Prenat Diagn. 2012 Dec;32(13):1225-32.
9. Lau TK, et al. Clinical utility of non-invasive fetal trisomy (NIFTY) test–early experience. J Matern Fetal Neonatal Med. 2012 Oct;25(10):1856-9.
10. Lau TK, et al. Non-invasive prenatal screening of fetal sex chromosomal abnormalities: perspective of pregnant women. J Maternal Fetal Neonatal Med. 2012 Dec;25(12):2616-9.3. Dan S, et al. Prenatal detection of aneuploidy and imbalanced chromosomal arrangements by massively parallel sequencing. PLoS One. 2012;7(2):e27835.
11. Lau TK, Cheung SW, Lo PS, et al. Non-invasive prenatal testing for fetal chromsomal abnormalities by low-coverage whole-genome sequencing of maternal plasma DNA: review of 1982 consecutive cases in a single center. Ultrasound Obstet Gynecol. 2014 Mar;43(3):254-64
12. Yao H, Jiang F, Hu H, et al., Detection of Fetal Sex Chromosome Aneuploidy by Massively Parallel Sequencing of Maternal Plasma DNA: Initial Experience in a Chinese Hospital. Ultrasound Obstet Gynecol. 2014 Mar 10. doi: 10.1002/uog.13361. [Epub ahead of print]
13. Zhou Q, Pan L, Chen S, et al. Clinical application of noninvasive prenatal testing for the detection of trisomies 21, 18, and 13: a hospital experience. Prenat Diagn. 2014 Jun 4. doi: 10.1002/pd.4428. [Epub ahead of print] 14. Non-invasive prenatal testing for trisomies 21, 18 and 13: clinical experience from 146,958 pregnancies by Wei Wang, BGI-Diagnostics. Ultrasound Obstet Gynecol. 2015 May;45(5):530-8. doi: 0.1002/uog.14792. Epub 2015 Apr 8.)

C: Vaka Çalışmaları
15. Yao H, et al. Non-invasive prenatal genetic testing for fetal aneuploidy detects maternal trisomy X. Prenat Diagn. 2012 Nov;32(11):1114-6.
16. Choi H, et al. Fetal aneuploidy screening by maternal plasma DNA sequencing: ‘false positive’ due to confined placental mosaicism. Prenat Diagn. 2013 Feb;33(2):198-200.
17. Pan M, Li FT, Li Y, et al. Discordant results between fetal karyotyping and non-invasive prenatal testing by maternal plasma sequencing in a case of uniparental disomy 21 due to trisomic rescue. Prenat Diagn. 2013 Jun;33(6):598-601.
18. Lau TK, Jiang FM, Stevenson RJ et al. Secondary findings from non-invasive prenatal testing for common fetal aneuploidies by whole genome sequencing as a clinical service. Prenat Diagn. 2013
19. Gao Y, Stejskal D, Jiang F, Wang W. A T18 false negative result by NIPT in a XXX, T18 case due to placental mosaicism. Ultrasound Obstet Gynecol. 2013 Nov 1.

D: İkiz Çalışmaları
20. Huang X, et al. Non-invasive prenatal screening of fetal Down syndrome by maternal plasma DNA sequencing in twin pregnancies. J Matern Fetal Neonatal Med. 2013 Mar;26(4):434-7.
21. Jing Zheng. et al. Effective Non-invasive Zygosity Determination by Maternal Plasma Target Region Sequencing. PLOS ONE. 2013: 8 (6) :e65050

E: Bağımsız Çalışmalar
22. Cheung SW, Patel A, Leung TY. Accurate description of DNA-based noninvasive prenatal screening. N Engl J Med. April 23, 2015 DOI: 1056/NEJMc 1412222)