Table 1. The types of pathogenic array findings and their frequencies in 1033 fetuses with ultrasound anomalies after excluding aberrations detectable by RAD.
|
Number of cases with the particular type of pathogenic finding on the total number of tested fetuses (n=1033) (%) |
Percentage of the type of pathogenic finding in relation to all pathogenic findings in the same size category |
|||||
|---|---|---|---|---|---|---|
| Type of array findings | Microscopic findings | Submicroscopic findings | Both microscopic and submicroscopic | Microscopic findings total n=19 | Submicroscopic findings total n=57 | Both microscopic and submicroscopic total n=76 |
| CAU | 18 (1.74%) | 26 (2.52%) | 44 (4.26%) | 94.74% (18/19) | 47.37% (27/57) | 57.89% (44/76) |
| UD | 1 (0.1%) | 4 (0.39%) | 5 (0.48%) | 5.26% (1/19) | 7.01% (4/57) | 6.58% (5/76) |
| SL | 0 | 27 (2.61%) | 27 (2.61%) | 0 | 47.37% (27/57) | 35.53% (27/76) |
| Total | 19 (1.84%) | 57 (5.52%) | 76 (7.36%) | — | — | — |
Abbreviations: CAU, causative findings explaining the fetal phenotype; UD, unexpected diagnoses (all findings were early-onset untreatable disorders not related to the ultrasound findings); SL, susceptibility loci for a neurodevelopmental disorder.