Table 1.
Basic characteristic of the samples in this study.
Table 2.
Detailed information of 33 samples with known CNVs.
Fig 1.
Examples of FCAPS results and amniotic fluid confirmation of two cases (LMQ155 and ZNY162) with CNVs<10Mb.
A-C, (A) FCAPS result, (B) amniotic fluid sequencing result and (C) karyotyping result of sample LMQ155, which contained a 1.3Mb microduplication on chromosome 13; D-F, FCAPS result (D), amniotic fluid sequencing result (E), and karyotyping result (F) of ZNY162, which contained a 8.7Mb deletion on chromosome 10.
Table 3.
Performance of detecting CNVs events in 919 pregnant women who took karyotyping/microarray testing.
Fig 2.
False positive results of sample INC6 by FCAPS showing CNV location near to telomere.
Table 4.
Detailed information of samples with inconsistent NIPT-FCAPS results to karyotyping/microarray results.