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We examined the 443 plasma samples with male fetal to appraise the approximate probability relationship.

Using Losses regression, we found that the amount of cff-DNA increased significantly with the gestational week (Additional file The volatility of the relative reads coverage was one of the major factors affecting the sensitivity and specificity of aneuploidy detection.

We enrolled 903 pregnant women with ages ranging from 20 to 45 years.

The gestational ages varied from 10 to 34 weeks, covering the first to the third trimesters.

We developed an advanced noninvasive prenatal diagnosis method based on massively parallel sequencing.

To further investigate the effect of GC content on reads coverage, we examined the hidden relationship between chromosome structure and inherent GC content.

We classified all of the unique 35-mers in the genome into 36 levels based on the numbers of guanine (G) and cytosine (C) bases, ranging from 0 to 35.

We used the 35-mer counts to cluster the chromosomes according to their GC levels within a matrix (Additional file : Figure S3).

In this study, we developed an advanced GC-correlation methodology for an MPS-based, noninvasive fetal trisomy (NIFTY) test.

Our technique has higher sensitivity and specificity than all previously reported z-score approaches for the detection of autosomal and sex chromosomal aneuploidy.

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    We examined the 443 plasma samples with male fetal to appraise the approximate probability relationship.