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Table 3 Percentage of abnormal cases missed by particular NIPT approaches. Additionally as 3.5 % of trisomy 13, 18 and 21 would be missed due to placental mosaicism 3/362 (0.8 %) cases were included in all NIPT options. As susceptibility CNVs are not the primary reason for invasive testing they were not included in the number of cases with structural anomalies that would be missed by NIPT

From: Enlarged NT (≥3.5 mm) in the first trimester – not all chromosome aberrations can be detected by NIPT

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)

  1. CI confidence interval, LL lower limit, UL upper limit