Type of NIPT testing | Percentage of patients in our cohort that would show false negative results with NIPT | 95 % CI for percentage LL, UL | Number of cases that would be missed in our cohort |
---|---|---|---|
Targeted approach for trisomy 13, 18 and 21 | 10 % (37/362) | 7.48, 13.80 | 34 + 3/362 (20x monosomy X, 5x other sex chromosomal aneuploidy, 3x triploidy, 6x structural anomalies + 3/362 (0.8 %) based on placental mosaicism) |
Targeted approach for common aneuploidies of chromosomes 13, 18, 21, X/Y | 4 % (14/362) | 2.26, 6.44 | 11 + 3/362 (2x mosaic sex chromosomal aneuploidy, 3x triploidy, 6x structural anomalies + 3/362 (0.8 %) based on placental mosaicism) |
Targeted approach for common aneuploidies of chromosomes 13, 18, 21, X/Y and triploidy | 3 % (11/362) | 1.64, 5.42 | 8 + 3/362 (2x mosaic sex chromosomal aneuploidy, 6x structural anomalies + 3/362 (0.8 %) based on placental mosaicism) |
Whole genome profiling with a resolution of ca. 10 Mb | 2 % (7/362) | 0.09, 4.02 | 4 + 3/362 (3x triploidy and 1x submicroscopic anomaly will be missed + 3/362 (0.8 %) based on placental mosaicism) |