Non-invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility
Article first published online: 25 DEC 2012
Copyright © 2013 ISUOG. Published by John Wiley & Sons, Ltd.
Ultrasound in Obstetrics & Gynecology
Volume 41, Issue 1, pages 2–6, January 2013
How to Cite
Hui, L. (2013), Non-invasive prenatal testing for fetal aneuploidy: charting the course from clinical validity to clinical utility. Ultrasound Obstet Gynecol, 41: 2–6. doi: 10.1002/uog.12360
- Issue published online: 25 DEC 2012
- Article first published online: 25 DEC 2012
- 6Noninvasive detection of fetal trisomy 21 by sequencing of DNA in maternal blood: a study in a clinical setting. Am J Obstet Gynecol 2011; 204: 205.e201–211., , , , , , , , , , , , , , , , , , , .
- 7Genome wide fetal aneuploidy detection by sequencing of maternal plasma DNA: diagnostic accuracy in a prospective, blinded, multicenter study. Am J Obstet Gynecol 2012; 206: S367., , , , , .
- 9Chromosome-selective sequencing of maternal plasma cell-free DNA for first-trimster detection of trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 322.e321–325., , , , .
- 10Noninvasive prenatal detection and selective analysis of cell-free DNA obtained from maternal blood: evaluation for trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 206: 319.e311–319., , , , .
- 11Non-Invasive Chromosomal Evaluation (NICE) Study: results of a multicenter prospective cohort study for detection of fetal trisomy 21 and trisomy 18. Am J Obstet Gynecol 2012; 207: 137.e131–138., , , , , , , , 3rd, , , , , , , , , , .
- 15Noninvasive prenatal testing for fetal trisomies in a routinely screened first-trimester population. Am J Obstet Gynecol 2012; 207: 374.e371–376., , , , .
- 16Clinical 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. DOI: 10.1002/pd.4002. [Epub ahead of print]., , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , .
- 17California Technology Assessment Forum. Fetal aneuploidy detection by maternal plasma DNA sequencing Part 2. A Technology assessment (Draft). October 17, 2012. http://www.ctaf.org/meetings/past-meetings [Accessed 3 November 2012].
- 18Prenatal detection of Down syndrome using Massively Parallel Sequencing (MPS): a rapid response statement from a committee on behalf of the Board of the International Society for Prenatal Diagnosis, 24 October 2011. Prenat Diagn 2012; 32: 1–2., , , , , , , , , , , .
- 19NSGC Public Policy Committee. Noninvasive prenatal testing/ Noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. 2012. http://www.nsgc.org/Portals/0/Advocacy/NSGC%20Noninvasive%20Prenatal%20Testing%204-17-2012.pdf [Accessed 18 October 2012].
- 20Sequenom Completes International Distribution Agreements To Expand Access To MaterniT21 PLUS Prenatal Testing Service. http://s.tt/1lTsC [Accessed 6 November 2012]..
- 23Clinical and cost consequences of incorporating a novel non-invasvie prenatal test into the diagnostic pathway for fetal trisomies. J Managed Care Medicine 2012; 15: 34–41., .
- 26Competing risks model in early screening for pre-eclampsia by biophysical and biochemical markers. Fetal Diagn Ther 2012. DOI: 10.1159/000341264. [Epub ahead of print]., , , , .
- 27National Coalition for Health Professional Education in Genetics. http://www.nchpeg.org/index.php?option = com_content&view = article&id = 384&Itemid = 255 [Accessed 18 October 2012].
- 30Cell-free fetal nucleic acids for non-invasive prenatal diagnosis, Report of the UK expert working group. PHG Foundation, 2009. http://www.nchpeg.org/index.php?option = com_content&view = article&id = 384&Itemid = 255 [Accessed 18 October 2012]., , , , , , , .