Noninvasive prenatal detection of chromosomal aneuploidies using different next generation sequencing strategies and algorithms.

Objective: Here we describe the successful application of massively parallel sequencing for noninvasive prenatal detection of trisomy 21. In addition, for the detection of a broader spectrum of fetal aneuploidies, a target enrichment approach was successfully tested.

Methods: The circulating cell-free DNA was prepared from 53 maternal blood samples and analysed using Illumina's sequencing systems Genome Analyzer(IIx) and HiSeq2000, respectively.