Table 2.
Data on clinically significant CNAs found in prenatal and fetal demise referrals, excluding those with abnormal karyotypes known at the time of testing and family history of a rearrangement carrier parent, stratified according to the size of the alteration identified
| Abnormality | <10 Mb | ≥10 Mb |
|---|---|---|
| Known microdeletion syndrome | 35 | NA |
| Known microduplication syndrome | 3 | NA |
| Microdeletion: reduced penetrance | 46 | NA |
| Microduplication: reduced penetrance | 16 | NA |
| Homozygous deletion | 2 | 0 |
| Terminal deletion | 8 | 1 |
| Terminal duplication | 0 | 1 |
| Other interstitial deletion | 27 | 10 |
| Other interstitial duplication | 10 | 1 |
| Unbalanced translocation | 7 | 14 |
| Insertion | 2 | 0 |
| Autosomal aneuploidy | NA | 11 |
| Sex chromosome aneuploidy | NA | 6 |
| XX male | NA | 1 |
| Polyploidy | NA | 1 |
| Complex rearrangements | 12 | 7 |
| Mosaic findings | 4 | 16 |
| Total | 172 (71%) | 69 (29%) |
CNAs, copy number alterations; NA, not applicable.