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Table 1 Published cases of false negative NIPT results due to chromosome 21q;21q rearrangements

From: A rare Down syndrome foetus with de novo 21q;21q rearrangements causing false negative results in non-invasive prenatal testing: a case report

Case number cfDNA screening technology Indication for NIPT Pregnant woman age (yrs) Blood drawn at GA (wk + d) Fetal DNA fraction Z-score for T21 Karyotype Explanation for false negative NIPT result Study [reference]
1 MPSS 1/370 risk for T21 by serum screening 32 18 + 0 15.6% 2.04 46,XX,der(21;21)(q10;q10),+ 21 Placental biopsies had 17–53% with T21 mosaicism Wang et al. (2013) [7]
2 MPSS Not recorded 26 25 13.4% Normal 46,XY,der(21;21)(q10;q10),+ 21 Not recorded Zhang et al. (2015) [14]
3 tMPS Not recorded Not recorded Not recorded Not recorded Normal 46,XN,der(21;21)(q10;q10),+ 21 Not recorded Willems et al. (2016) [24]
4 MPSS 1/140 risk for T21 by serum screening 34 13 + 5 10.5% 0.68 46,XX,i(21)(q10) Confirmed iso21q; placental trisomy mosaicism confirmed Oepkes et al. (2016) [25]
5 MPSS Not recorded Not recorded 10 + 6 7% 0.63 46,XX,der(21;21)(q10;q10),+ 21 21q rearrangement (presumed iso21q); placenata not available for study Huijsdens-van Amsterdam et al. (2018) [23]
6 MPSS 1/300–1/700 for T21 by serum screening Not recorded 12 + 3 3% 0.83 46,XX,i(21)(q10) Confirmed iso21q; placental not available for study Huijsdens-van Amsterdam et al. (2018) [23]
7 tMPS Ultrasound markers Not recorded 23 + 0 17.2% Normal 46,XX,der(21;21)(q10;q10),+ 21 21q rearrangement (presumed iso21q); placenata not available for study Huijsdens-van Amsterdam et al. (2018) [23]
8 tMPS Ultrasound markers Not recorded 13 + 0 12.7% Normal 46,XX,der(21;21)(q10;q10),+ 21 21q rearrangement (presumed iso21q); placenata not available for study Huijsdens-van Amsterdam et al. (2018) [23]
9 MPSS 1/592 risk for T21 by serum screening 30 17 + 5 16.9% 0.66 46,XY,der(21;21)(q10;q10),+ 21 Placenata not available for study This study
  1. Notes: cfDNA = cell-free DNA; GA = gestational age; iso21q = isochromosome 21q; MPSS = Massive Parallel Shotgun Sequencing; NIPT = Non-Invasive Prenatal Testing; T21 = Trisomy 21; tMPS = targeted Massive Parallel Sequencing