Fig. 2

Comparison of NIPT and CMA in detecting duplications. AI NIPT of peripheral blood from the pregnant woman. The genomic position is shown on the x-axis and the count-based T-score is shown on the y-axis, arrow indicates the sign of duplication region detected by NIPT: 5.29 Mb at chromosome 2q32.3q33.1. Because the gain in copy number go off scale, it could be speculated that this duplication is maternal in origin. AII–AIII. CMA as indicated by copy number state using the Affymetrix Cytoscan 750 K.The chromosome duplication region of the fetus and pregnant women from 195,365,474 to 199,646,763 bp at chromosome 2 is indicated by bule box. The upper axis indicates the log2 ratio, where 2 illustrates the ratio of each SNP compared to diploid individuals in chromosome (a log2 ratio of 0 means an actual ratio of 1). Additionally, the lower abscissa axis indicates the value of B allele frequency (BAF). BAF may have three values in a diploid individual. While the BAF with four values and the increased log2 ratio indicated duplication regions. AIV The CMA result of the pregnant women’s husband. BI NIPT of peripheral blood from a pregnant woman shows gain in copy number at chromosome 11q21q25 with 40.09 Mb, arrow indicates the sign of duplication region detected by NIPT. BII The CMA result of the fetus shows the chromosome duplication region from 99,364,342 to 134,937,416 bp at chromosome 11q22.1q25 by bule box. BIII–BIV. The CMA results of the parents revealed a de novo 35.57 Mb duplication at 11q22.1q25 (chromosome position: 99,364,342–134,937,416)