Table 3.
Genetic testing yield
| Test | Baseline | Testing protocol | Program prenatal completed | Program prenatal abnormal | Program postnatal completed | Program postnatal abnormal | Overall program abnormal |
|---|---|---|---|---|---|---|---|
| Karyotype | 15/241 (6%) | 6/19 (32%) | 14 | 3 | 14 | 2 | 18% (5/28) |
| 22q11.2 deletion testing | 18/215 (8%) | 3/18 (17%) | 1 | 0 | 26 | 9 | 33% (9/27) |
| Microarray | 53/222 (24%) | 15/76 (20%) | 20 | 9 | 170 | 38 | 25% (47/190) |
| Exome sequencing | NA | NA | 0 | 0 | 16 | 11 | 69% (11/16) |
| Other sequencing testing | NA | NA | 0 | 0 | 40 | 9 | 23% (9/40) |
This table illustrates the testing pattern and yield for patients split across which tests were completed prenatally and which tests were completed postnatally. This table also gives the total yield of the testing modality across both prenatal and postnatal samples.