Table 2.
ID | aCGH testing interval (days) | DNA input quantity (ng) | DNA260/280 | DNA conc (Qubit) ng/ul | DLRS | Sufficiency | aCGH results | aCGH interpretation |
---|---|---|---|---|---|---|---|---|
1 |
13 |
1000 |
1.97 |
161 |
0.3 |
HR |
arr (1-22,X) x2 |
Euploid female |
2 |
12 |
1000 |
1.92 |
85 |
0.42 |
HR |
arr (1-22,X) x2, gain 70Kb at 1q42.13, loss 230Kb at 3q27.2 |
Female with unclassified CNV |
3 |
15 |
500 |
2.02 |
28.6 |
0.47 |
LR |
arr (1-22,X) x2 |
Euploid female |
4 |
13 |
250 |
2.03 |
10.4 |
0.45 |
LR |
arr (1-22,X) x2 |
Euploid female |
5 |
15 |
1000 |
1.99 |
83 |
0.67 |
HR |
arr (1-22,X)x2, gain 660Kb at 5q13.1, gain 330Kb at 5q32 |
Female with unclassified CNV |
6 |
13 |
550 |
1.91 |
23 |
0.33 |
HR |
arr mos 7p11.2-q11.23 (55,824,493-75,930,688) x1 |
Male with mosaic deletion including Williams syndrome chromosome region |
7 |
35 |
800 |
2.01 |
47.8 |
0.28 |
HR |
arr (1-22) x2, (XY) x1 |
Euploid male |
8 |
14 |
1000 |
21.93 |
446 |
0.28 |
HR |
arr (1-22,X) x2 |
Euploid female |
9 |
2 |
|
|
|
|
I |
- |
Insufficient fetal tissue |
10 |
2 |
|
|
|
|
I |
- |
Insufficient fetal tissue |
11 |
9 |
220 |
1.98 |
26.6 |
0.71 |
LR |
arr (1-12,14-22) x2, mos (13) x3, mos (X) x2, mos (Y) x1 |
MCC in T13 male v. vanished T13 female twin v. chimeric pregnancy v. true mosaic |
12 |
9 |
460 |
1.62 |
14.9 |
0.7 |
LR |
arr (1-20,22,X) x2 (21) x3 |
Female with Trisomy 21 |
13 |
47 |
1000 |
1.9 |
154 |
0.26 |
HR |
arr (1-22,X) x2 |
Euploid female |
14 |
27 |
600 |
2.01 |
41.8 |
0.4 |
LR |
arr (1-22,X) x2 |
Euploid female |
15 |
40 |
1000 |
1.91 |
92 |
0.34 |
HR |
arr18p11.32q23 (1-78847598)x3; |
Female with Trisomy 18 |
16 |
37 |
1000 |
2.05 |
94.2 |
0.32 |
HR |
arr (1-22, X) x2 |
Euploid female |
17 |
41 |
300 |
1.9 |
15.7 |
0.31 |
HR |
arr 11p11.32q23 (1-135006515)x3 |
Male with Trisomy 11 |
18 |
30 |
|
1.99 |
56.4 |
|
I |
- |
Insufficient fetal tissue |
19 |
1 |
|
|
|
|
I |
- |
Insufficient fetal tissue |
20 | 50 | 750 | 1.88 | 48.4 | 0.44 | HR | arr4p16.3p15.2 (230836-27342422) x1, arr5q33.2q35.3 (154280916-180674029) x3 | Male with unbalanced 4p-5q translocation; known paternal paracentric inversion |
Abbreviations:DLRS Distribution of Log2 Ratio Spread, CNV copy number variant, HR high-resolution, LR low-resolution, I insufficient, MCC maternal cell contamination, T13 Trisomy 13.