Wissentschaftliche Studien zum PreviaTest

Zur Methode:

 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.

Zur klinischen Validierung:

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.

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  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]

Zwillingsstudie:

14. 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.

15. Jing Zheng. et al. E_ective Non-invasive Zygosity Determination by Maternal Plasma Target Region Sequencing. PLOS ONE. 2013: 8 (6) :e65050