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. 2018 Oct 1;26(Suppl 1):113–819. doi: 10.1038/s41431-018-0247-7
Noninvasive prenatal testing results, n = 810
Normal results for chromosomes 21, 18, 13 and sex, n = 783 (96.7 %) High risk of trisomy 21, n = 6 (0.7 %) High risk of trisomy 18, n = 3 (0.4 %) High risk og trisomy 13, n = 0 High risk of sex chromosome aberration, n = 5 (0.6 %) Inconclusive results and failed tests, n = 13* (1.6 %)
High-risk (>1:300 of trisomy 21) after combined first trimester screening, n = 242 (29.9 %) 230 (95.0 %) 4 (1.7 %) (confirmed, n = 3; not confirmed, n = 1) 3 (1.2 %) (confirmed, n = 3) 2 (XYY, no follow-up and monosomy X, confirmed) 3 (1.2 %) (failed tests)
Intermediate-risk (1:700 - 1:300) after combined first trimester screening, n = 568 (70.1 %) 553 (97.4 %) (false negative trisomy 21, n = 1, postnatal blood sample, 46,XX,rob(21;21)(q10;q10)) 2 (0.4 %) (confirmed, n = 2) 3 (monosomy X, one not confirmed and one no follow-up and XXY, confirmed) 5 (0.9 %) (failed tests), 5 (0.9 %) (inconclusive results)
*n = 8, repeated NIPT with normal results; n = 3, invasive diagnostics with normal results; n = 2, no follow-up