Table 1 The indications for CMA and karotyping of 3336 cases with single and multiple high-risk indicators
Indications | Number | Aneuploidy | BCAs | CNV (P + LP) | CNV | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
P | LP | ||||||||||
AMA | 1044 | 8 | (0.77%) | 8 | (0.77%) | 12 | (1.15%) | 9 | (0.86%) | 3 | (0.29%) |
NT(+) | 234 | 21 | (8.97%) | 2 | (0.85%) | 3 | (1.28%) | 3 | (1.28%) | 0 | (0.00%) |
MSS(+) | 260 | 2 | (0.77%) | 1 | (0.38%) | 7 | (2.69%) | 6 | (2.31%) | 1 | (0.38%) |
NIPT(+) | 281 | 90 | (32.03%) | 0 | (0.00%) | 13 | (4.63%) | 12 | (4.27%) | 1 | (0.36%) |
US(+) | 509 | 2 | (0.39%) | 3 | (0.59%) | 24 | (4.72%) | 19 | (3.73%) | 5 | (0.98%) |
APH | 318 | 2 | (0.63%) | 2 | (0.63%) | 5 | (1.57%) | 4 | (1.26%) | 1 | (0.31%) |
Others | 265 | 4 | (1.51%) | 14 | (5.28%) | 7 | (2.64%) | 3 | (1.13%) | 4 | (1.51%) |
AMA + NT(+) | 51 | 6 | (11.76%) | 1 | (1.96%) | 1 | (1.96%) | 1 | (1.96%) | 0 | (0.00%) |
AMA + MSS(+) | 2 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
AMA + NIPT(+) | 35 | 12 | (34.29%) | 0 | (0.00%) | 2 | (5.71%) | 0 | (0.00%) | 2 | (5.71%) |
AMA + US(+) | 70 | 1 | (1.43%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
AMA + APH | 127 | 1 | (0.79%) | 2 | (1.57%) | 2 | (1.57%) | 2 | (1.57%) | 0 | (0.00%) |
AMA + Others | 55 | 1 | (1.82%) | 3 | (5.45%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
NT(+) + NIPT(+) | 2 | 2 | (100.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
NT(+) + US(+) | 10 | 1 | (10.00%) | 0 | (0.00%) | 1 | (10.00%) | 1 | (10.00%) | 0 | (0.00%) |
NT(+) + APH | 6 | 0 | (0.00%) | 0 | (0.00%) | 1 | (16.67%) | 1 | (16.67%) | 0 | (0.00%) |
NT(+) + Others | 3 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
MSS(+) + US(+) | 3 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
MSS(+) + APH | 7 | 0 | (0.00%) | 1 | (14.29%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
MSS(+) + Others | 5 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
NIPT(+) + US(+) | 5 | 4 | (80.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
NIPT(+) + Others | 2 | 1 | (50.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
US(+) + APH | 14 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
US(+) + Others | 3 | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) | 0 | (0.00%) |
APH + Others | 25 | 0 | (0.00%) | 1 | (4.00%) | 2 | (8.00%) | 2 | (8.00%) | 0 | (0.00%) |
All | 3336 | 158 | (4.74%) | 38 | (1.14%) | 80 | (2.40%) | 63 | (1.89%) | 17 | (0.51%) |