Table 2.
Gestational age at magnetic resonance imaging (MRI), MRI score and neurodevelopmental (neurodev) outcome in 21 cases of fetal corpus callosal agenesis (CCA)
| Case | Type of CCA | GA at first exam (weeks) | Fetal MRI score | Age at neurodev testing (years) | Neurodev outcome score* | Notes | ||
|---|---|---|---|---|---|---|---|---|
| Cognitive | Motor | Language | ||||||
| 1 | Partial (small body remnant) | 21 + 1 | 1 | 1.7 | 1 | 1 | 1 | |
| 2 | Partial (hypoplastic and dysplastic) + IH cyst | 22 + 1 | 3 | 4.2 | 1 | 2 | 1 | DISP1 heterozygote |
| 3 | Complete | 31 + 2 | 4 | 0.8 | 1 | 1 | 2 | |
| 4 | Complete | 24 + 3 | 2 | 2.9 | 1 | 0 | 2 | |
| 5 | Partial (small body remnant) | 23 + 3 | 3 | 3.1 | 1 | 2 | 1 | |
| 6 | Partial (hypoplastic and dysplastic) | 24 + 2 | 0 | 1.5 | 1 | 1 | 1 | |
| 7 | Complete | 22 + 4 | 4 | 3.5 | 0 | 0 | 0 | |
| 8 | Partial (small body remnant) | 23 + 0 | 2 | 2.0 | 1 | 1 | 1 | DCC mutation |
| 9 | Partial (small body remnant) | 19 + 1 | 2 | 3.8 | 1 | 1 | 1 | |
| 10 | Partial + pericallosal lipoma | 35 + 4 | 6 | 2.8 | 0 | 1 | 0 | Negative WES |
| 11 | Partial (absent posterior body + splenium) | 23 + 0 | 3 | 2.3 | 1 | 2 | 1 | Negative WES |
| 12 | Complete + IH cyst | 29 + 2 | 2 | 5.8 | 2 | 1 | 2 | |
| 13 | Complete | 22 + 1 | 4 | 2.0 | 0 | 0 | 1 | Microdeletion Xq28 |
| 14 | Complete | 27 + 1 | 3 | 0.5 | 1 | 1 | 1 | |
| 15 | Complete | 21 + 4 | 2 | 0.6 | 1 | 1 | 2 | |
| 16 | Partial (small body remnant) | 23 + 0 | 4 | 2.2 | 0 | 0 | 0 | ARID1B mutation |
| 17 | Complete | 23 + 0 | 5 | 3.5 | 0 | 0 | 0 | Severe delay; negative WES |
| 18 | Complete | 21 + 4 | 2 | 0.6 | 1 | 1 | 2 | |
| 19 | Complete | 30 + 0 | 5 | 5.0 | 1 | 1 | 0 | |
| 20 | Complete | 31 + 0 | 3 | 1.4 | 1 | 1 | 1 | |
| 21 | Partial (hypoplasia) | 35 + 3 | 5 | 3.5 | 0 | 0 | 0 | Severe delay |
When more than one fetal MRI examination was performed, the first is presented.
*
Neurodev outcome score: 0, below average (development quotient (DQ) or global scale index (GSI) < 85); 1, average (DQ/GSI 85–115); 2, above average (DQ/GSI > 115).
GA, gestational age; IH, interhemispheric; WES, whole‐exome sequencing.