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Table 5 Performances of karyotyping over CNV-seq in each indication for prenatal diagnosis

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping 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)
  1. P values were the statistical difference of constituent ratios by Chi-square test between NIPT and CNV-seq, maternal serum screening and CNV-seq, fetal ultrasound and CNV-seq, maternal age and CNV-seq