Table 2.
The outcomes of the cases with a positive cfDNA test result for structural chromosome anomalies.
| Structural Anomalies | ∑ n | True Positives n | False Positives n | Positive Predictive Value |
|---|---|---|---|---|
| Deletions | ||||
| del (22)(q11.2) | 9 | 3 | 6 | 33.3% |
| del (1)(p36) | 3 | 3 | ||
| del (4)(p) * | 3 | 1 | 2 | 33.3% |
| del (5)(p) * | 3 | 1 | 2 | 33.3% |
| del(10)(q21.1q21.3) | 2 | 2 | ||
| del (2q?) * | 1 | 1 | ||
| del (2)(q24.3q31.2) | 1 | 1 | ||
| del (3)(q11.2q13.13) | 1 | 1 | ||
| del (7)(q21.11q22.1) | 1 | 1 | ||
| del (7)(q21.13q31.32) | 1 | 1 | ||
| del (10)(q25.2q26.3) | 1 | 1 | ||
| del(10)(p subtel) | 1 | 1 | ||
| del (13q?) * | 1 | 1 | ||
| del (14)(q21.1) | 1 | 1 | ||
| del (14)(q31.1q31.5) | 1 | 1 | ||
| del (16)(q14.1q16.1) | 1 | 1 | ||
| del (15)(q11.2q11.3) | 1 | 1 | ||
| del (18)(q12.2q12.3) | 1 | 1 | ||
| Total | 33 | 10 | 23 | 30.3% |
| Duplications | ||||
| dup (22)(q11.2) | 1 | 1 | ||
| dup (8)(q22.3q23.1) | 1 | 1 | ||
| dup (4)(p16.3p15.2) | 1 | 1 | ||
| dup (16p) * | 1 | 1 | ||
| dup (1)(q25.3q32.1) | 1 | 1 | ||
| dup (4)(q27q31.1) | 1 | 1 | ||
| dup (8)(p11qter) | 1 | 1 | ||
| dup(21)(q21.1q22.2) | 1 | 1 | ||
| tetrasomy (12p) | 1 | 1 | ||
| Total | 9 | 5 | 4 | 55.6% |
| Double anomalies | ||||
| dup(3p)/dup(15q) * | 1 | 1 | ||
| mosdup(7)(q33q36)/del (18)(q22q23) | 1 | 1 | ||
| Y/2 abnormal CNVs | 1 | 1 | ||
| Total | 3 | 1 | 2 | 33.3% |
| Prader Willi/Angelman Syndrome | 4 | 4 | ||
| SAs Total | 49 | 16 | 33 | 32.7% |
* declared by the physician.