Benefits and limitations of whole genome versus targeted approaches for noninvasive prenatal testing for fetal aneuploidies

Elles M.J. Boon, Brigitte H.W. Faas

Research output: Contribution to journalReview articleAcademicpeer-review

46 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)563-568
Number of pages6
JournalPrenatal diagnosis
Volume33
Issue number6
DOIs
Publication statusPublished - Jun 2013

Cite this