Dot plots of trisomic versus fetal fractions for cohorts 1 and 2

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Fig. 4. Dot plots of trisomic versus fetal fractions for cohorts 1 and 2. Dot plots of trisomic versus fetal fractions for cohorts 1 and 2. The x axis indicates the trisomic fraction, and the y axis shows the fetal fraction. Each dot represents a distinct pregnancy, and the colors represent different chromosomes. Results showed that, in many cases, the trisomic fraction was much less than the estimated fetal fraction (dots within yellow triangles). This disparity suggests that, in cases falling above the identity line, placental mosaicism is likely. (A) The circled data point in cohort 1 shows a trisomic fraction that was much greater than the fetal fraction (red circle). Maternal mosaicism for trisomy 8 was suspected. (B) The circled data point in cohort 2 is a confirmed case of trisomy 8 maternal mosaicism. Mark D. Pertile et al., Sci Transl Med 2017;9:eaan1240 Published by AAAS