| Prenatal fetal phenotypes and pregnancy outcomes | ||||||
|---|---|---|---|---|---|---|
| Fetus | 1 | 2 | 3 | 4 | 5 | 6 |
| Sex | F | M | F | M | M | F |
| Megalencephaly or hemimegalencephaly | + | − | + | − | − | + |
| Polymicrogyria | − | − | + | − | − | + |
| Ventriculomegaly | − | − | + | + | − | − |
| Dysmorphism | + | − | − | + | − | + |
| Shortned long bones | + | − | − | + | − | + |
| Extended lymphangioma | − | + | − | − | + | − |
| Macrosomia | + | + | + | + | + | + |
| Pregnancy outcomes | Terminaison of pregnancy | Terminaison of pregnancy | Terminaison of pregnancy | Terminaison of pregnancy | Neonatal death | Death during labor |
| Term of birth/TOP (WG) | 31+0 | 26+0 | 27+6 | 20+5 | 38+0 | 30+0 |
| Molecular data | ||||||
|---|---|---|---|---|---|---|
| Fetus | Phenotype | Tissue | Affected | Protein | Variant | Allternative allele count |
| 1 | MCAP | Lung | Yes | p.Phe909Leu | Rare | 35% |
| 2 | CLOVES | Tumor | Yes | p.Glu545Lys | Hotspot | 10% |
| 2 | CLOVES | Lung | No | 0% | ||
| 2 | CLOVES | Muscle | No | 0% | ||
| 3 | MCAP | Brain | Yes | p.His1047Arg | Hotspot | 42% |
| 3 | MCAP | Brain | No | 0% | ||
| 4 | MCAP | Skin | Yes | p.Glu545Lys | Hotspot | 5% |
| 4 | MCAP | Lung | No | 0% | ||
| 5 | CLOVES | Skin | Yes | p.His1047Arg | Hotspot | 6% |
| 5 | CLOVES | Liver | No | 0% | ||
| 5 | CLOVES | Skin | Yes | p.His1047Arg | Hotspot | 24% |
| 6 | MCAP | Tumor | Yes | p.Glu110del | Rare | 19% |