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)