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Table 2 Comparison of results between cytogenetic karyotyping and CNV-Seq

From: Investigation on combined copy number variation sequencing and cytogenetic karyotyping for prenatal diagnosis

cytogenetic karyotyping   CNV P value
None (n = 4851) B
(n = 38)
LB (n = 3465) VUS (n = 304) LP
(n = 23)
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 = 9452)
Normal 4666 (96.2) 36 (94.7) 3355 (96.8) 289 (95.1) 22 (95.7) 60 (50.8) 0 (0.0) 1 (5.6) 1 (0.6) 1 (3.0) 8431 (89.2) <  0.001
DS 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 358 (80.3) 0 (0.0) 0 (0.0) 0 (0.0) 358 (3.8)
ES 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 55 (12.3) 0 (0.0) 0 (0.0) 0 (0.0) 55 (0.6)
PS 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 12 (2.7) 0 (0.0) 0 (0.0) 0 (0.0) 12 (0.1)
XXX 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 27 (17.3) 1 (3.0) 28 (0.3)
XYY 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 33 (21.2) 0 (0.0) 33 (0.3)
XXY 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 72 (46.2) 0 (0.0) 72 (0.8)
mark 2 (0.0) 1 (2.6) 2 (0.1) 2 (0.7) 0 (0.0) 2 (1.7) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 9 (0.1)
Turner 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 11 (7.1) 2 (6.1) 13 (0.1)
Sex A Mosaic 4 (0.1) 0 (0.0) 4 (0.1) 1 (0.3) 0 (0.0) 2 (1.7) 0 (0.0) 0 (0.0) 3 (1.9) 28 (84.8) 42 (0.4)
Auto A Mosaic 2 (0.0) 0 (0.0) 1 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 2 (0.4) 16 (88.9) 0 (0.0) 0 (0.0) 21 (0.2)
Translocation 47 (1.0) 0 (0.0) 23 (0.7) 3 (1.0) 0 (0.0) 1 (0.8) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 74 (0.8)
Polymorphism 102 (2.1) 0 (0.0) 63 (1.8) 5 (1.6) 0 (0.0) 0 (0.0) 0 (0.0) 1 (5.6) 0 (0.0) 0 (0.0) 171 (1.8)
Triploid 2 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 2 (0.0)
Unbalance 0 (0.0) 0 (0.0) 0 (0.0) 2 (0.7) 0 (0.0) 49 (41.5) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 51 (0.5)
No results # 14 (0.3) 1 (2.6) 9 (0.3) 2 (0.7) 1 (4.3) 2 (1.7) 18 (4.0) 0 (0.0) 5 (3.2) 0 (0.0) 52 (0.6)
Sex and other 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 2 (1.7) 1 (0.2) 0 (0.0) 4 (2.6) 1 (3.0) 8 (0.1)
Others 12 (0.2) 0 (0.0) 8 (0.2) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 0 (0.0) 20 (0.2)