Table 5 Performances of karyotyping over CNV-seq in each indication for prenatal diagnosis
Indication for prenatal diagnosis | P-del/dup (n = 118) | Auto A (n = 446) | Auto A M (n = 18) | Sex A (n = 156) | Sex A M (n = 33) | Total (n = 771) | P value | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
NIPT | |||||||||||
NIPT High-risk | 30 (25.40) | 272 (61.00) | 11 (61.00) | 125 (80.10) | 21 (63.60) | 459 (59.53) | < 0.001 | ||||
NIPT Low-risk | 0 (0.00) | 0 (0.00) | 1 (6.00) | 0 (0.00) | 0 (0.00) | 1 (0.13) | |||||
Absent | 88 (74.60) | 174 (39.00) | 6 (33.00) | 31 (19.90) | 12 (36.40) | 311 (40.34) | |||||
Maternal serum screening | |||||||||||
Maternal serum screening High-risk | 32 (27.12) | 129 (28.90) | 6 (33.33) | 8 (5.10) | 13 (39.40) | 188 (24.40) | < 0.001 | ||||
Maternal serum screening Low-risk | 26 (22.03) | 42 (9.40) | 4 (22.22) | 33 (21.20) | 6 (18.20) | 111 (14.40) | |||||
Absent | 60 (50.85) | 275 (61.70) | 8 (44.44) | 115 (73.70) | 14 (42.40) | 472 (61.20) | |||||
fetal ultrasound | |||||||||||
fetal ultrasound (0) | 47 (39.83) | 82 (18.00) | 9 (50.00) | 88 (56.41) | 13 (39.40) | 239 (31.00) | < 0.001 | ||||
fetal ultrasound (1) | 20 (16.95) | 36 (8.00) | 5 (28.00) | 27 (17.31) | 12 (36.36) | 100 (13.00) | |||||
fetal ultrasound (2) | 15 (12.71) | 177 (40.00) | 1 (5.50) | 18 (11.54) | 5 (15.15) | 216 (28.00) | |||||
fetal ultrasound (3) | 20 (16.95) | 78 (18.00) | 2 (11.00) | 13 (8.33) | 2 (6.06) | 115 (14.90) | |||||
fetal ultrasound (4) | 16 (13.56) | 73 (16.00) | 1 (5.50) | 10 (6.41) | 1 (3.03) | 101 (13.10) | |||||
maternal age | |||||||||||
Advanced maternal age | 22 (18.60) | 210 (47.10) | 7 (38.90) | 49 (31.40) | 12 (36.40) | 300 (38.90) | < 0.001 | ||||
maternal age < 35 years old | 96 (81.40) | 236 (52.90) | 11 (61.10) | 107 (68.60) | 21 (63.60) | 471 (61.10) | |||||
Indication for prenatal diagnosis | DS (n = 358) | ES (n = 55) | PS (n = 12) | XXX (n = 28) | XYY (n = 33) | XXY (n = 72) | XO (n = 13) | Triploid (n = 2) | Unbalance (n = 51) | Total (n = 624) | P value |
NIPT | |||||||||||
NIPT High-risk | 231 (64.50) | 30 (54.50) | 7 (58.30) | 22 (78.60) | 29 (87.90) | 65 (90.30) | 7 (53.80) | 0 (0.00) | 16 (31.40) | 407 (65.20) | < 0.001 |
NIPT Low-risk | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 0 (0.00) | 1 (50.00) | 0 (0.00) | 1 (0.20) | |
Absent | 127 (35.50) | 25 (45.50) | 5 (41.70) | 6 (21.40) | 4 (12.10) | 7 (9.70) | 6 (46.20) | 1 (50.00) | 35 (68.60) | 216 (34.60) | |
Maternal serum screening | |||||||||||
Maternal serum screening High-risk | 99 (27.65) | 23 (41.80) | 4 (33.30) | 0 (0.00) | 2 (6.06) | 3 (4.20) | 3 (23.10) | 1 (50.00) | 8 (15.70) | 143 (22.90) | < 0.001 |
Maternal serum screening Low-risk | 39 (10.90) | 0 (0.00) | 2 (16.70) | 8 (28.60) | 6 (18.18) | 17 (23.60) | 1 (7.70) | 0 (0.00) | 11 (21.60) | 84 (13.50) | |
Absent | 220 (61.45) | 32 (58.20) | 6 (50.00) | 20 (71.40) | 25 (75.76) | 52 (72.20) | 9 (69.20) | 1 (50.00) | 32 (62.70) | 397 (63.60) | |
Fetal ultrasound | |||||||||||
fetal ultrasound (0) | 77 (21.51) | 3 (5.45) | 1 (8.30) | 18 (64.30) | 21 (64.00) | 46 (64.00) | 1 (8.00) | 0 (0.00) | 17 (33.33) | 184 (29.00) | < 0.001 |
fetal ultrasound (1) | 31 (8.66) | 5 (9.09) | 0 (0.00) | 6 (21.40) | 4 (12.00) | 13 (18.00) | 2 (15.00) | 0 (0.00) | 5 (9.80) | 66 (11.00) | |
fetal ultrasound (2) | 169 (47.21) | 4 (7.27) | 0 (0.00) | 1 (3.60) | 4 (12.00) | 10 (14.00) | 5 (38.00) | 0 (0.00) | 9 (17.65) | 202 (32.00) | |
fetal ultrasound (3) | 55 (15.36) | 16 (29.09) | 2 (16.70) | 2 (7.10) | 4 (12.00) | 2 (3.00) | 1 (8.00) | 0 (0.00) | 11 (21.57) | 93 (15.00) | |
fetal ultrasound (4) | 26 (7.26) | 27 (49.10) | 9 (75.00) | 1 (3.60) | 0 (0.00) | 1 (1.00) | 4 (31.00) | 2 (100.00) | 9 (17.65) | 79 (13.00) | |
Maternal age | |||||||||||
Advanced maternal age | 179 (50.00) | 23 (41.80) | 3 (25.00) | 14 (50.00) | 4 (12.10) | 27 (37.50) | 0 (0.00) | 1 (50.00) | 7 (13.70) | 258 (41.30) | < 0.001 |
unadvanced maternal age | 179 (50.00) | 32 (58.20) | 9 (75.00) | 14 (50.00) | 29 (87.90) | 45 (62.50) | 13 (100.00) | 1 (50.00) | 44 (86.30) | 366 (58.70) | |