Funding sources: None
Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies
Article first published online: 17 MAY 2013
© 2013 John Wiley & Sons, Ltd.
Special Issue: Noninvasive Prenatal Testing Using Maternal Plasma DNA: Part I
Volume 33, Issue 6, pages 563–568, June 2013
How to Cite
Boon, E. M. J. and Faas, B. H. W. (2013), Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies. Prenat. Diagn., 33: 563–568. doi: 10.1002/pd.4111
Conflicts of interest: None declared
- Issue published online: 17 MAY 2013
- Article first published online: 17 MAY 2013
- Accepted manuscript online: 24 APR 2013 03:20AM EST
The goal to noninvasively detect fetal aneuploidies using circulating cell-free fetal DNA in the maternal plasma seems to be achieved by the use of massively parallel sequencing (MPS). To date, different MPS approaches exist, all aiming to deliver reliable results in a cost effective manner. The most widely used approach is the whole genome MPS method, in which sequencing is performed on maternal plasma to determine the presence of a fetal trisomy. To reduce costs targeted approaches, only analyzing loci from the chromosome(s) of interest has been developed. This review summarizes the different MPS approaches, their benefits and limitations and discusses the implications for future noninvasive prenatal testing. © 2013 John Wiley & Sons, Ltd.