Table 4.
Characteristics of CMA findings and outcome
| Pregnancy | Lab classification of CNV* | Inheritance of CNV on lab report | Patient's concern about outcome | Partner's concern about outcome | Pregnancy outcome |
|---|---|---|---|---|---|
| 313 | pCNV | Unknown | Somewhat concerned | — | Continuing |
| 202 | pCNV | De novo | Significantly concerned | Significantly concerned | Terminated |
| 201 | pCNV | De novo | Significantly concerned | — | Terminated |
| 306 | lpCNV | De novo | Somewhat concerned | Somewhat concerned | Continuing |
| 315 | uCNV | Inherited | Lingering doubt | — | Continuing |
| 304** | uCNV / uCNV | Inherited / de novo | Somewhat concerned | — | Continuing |
| 301** | uCNV / uCNV | Inherited / Inherited | Somewhat concerned | Not concerned | Continuing |
| 101** | uCNV / uCNV | Inherited/inherited | Somewhat concerned | Somewhat concerned | Continuing |
| 319 | uCNV | Unknown | Lingering doubt | Not concerned | Continuing |
| 318 | uCNV | De novo | Somewhat concerned | — | Continuing |
| 309 | uCNV | Unknown | Lingering doubt | Somewhat concerned | Continuing |
| 308 | uCNV | Unknown | Not concerned | — | Continuing |
| 303 | uCNV | Inherited | Not concerned | — | Continuing |
| 109 | uCNV | Unknown | Somewhat concerned | Somewhat concerned | Continuing |
| 108 | uCNV | Unknown | Somewhat concerned | — | Continuing |
| 103 | uCNV | Inherited | Not concerned | Not concerned | Continuing |
| 310 | lbCNV | Inherited | Not concerned | — | Continuing |
| 312 | lbCNV | Inherited | Lingering doubt | — | Continuing |
| 302 | lbCNV | Unknown | Not concerned | — | Continuing |
| 300 | lbCNV | Inherited | Not concerned | Lingering doubt | Continuing |
| 111 | lbCNV | Inherited | Somewhat concerned | — | Continuing |
| 106 | lbCNV | Inherited | Not concerned | — | Continuing |
| 105 | lbCNV | Inherited | Lingering doubt | — | Continuing |
| 104 | lbCNV | Inherited | Somewhat concerned | Not concerned | Continuing |
| 107*** | lbCNV | Inherited | Not concerned | — | Selective reduction of twin A |
| 307 | Not available | Unknown | Not concerned | Not concerned | Continuing |
| 114 | Not available | Unknown | Lingering doubt | — | Continuing |
| 112*** | Not available | Unknown | Somewhat concerned | Somewhat concerned | Continuing |
*
pCNV = pathogenic CNV; lpCNV = likely pathogenic CNV; uCNV = variant of uncertain significance; lbCNV = likely benign CNV
**
Two CNVs identified
***
Carrying multiples