Clinical studies | antenatal MRI | TUS | Brain MRI | SE | abdominal MRI | abdominal US | OE | PE | Genetic test | |
---|---|---|---|---|---|---|---|---|---|---|
No. of tests conducted in the first 16 weeks showing diagnostic signs of TSC / no. of patients in whom the test was conducted within the first 16 weeks of age | 20/30 | 18/54 | 76/83 | 35/73 | 2/7 | 8/63 | 7/33 | 98/98 | 3/3 | |
66.7% | 33.3% | 91.6% | 47.9% | 28.6% | 12.7% | 21.2% | 100% | 100% | ||
Type of pathological lesions found in the first 16 weeks; no. of patients (% of positive results) | SEN | SEN | SEN | HMs | multiple renal cysts | multiple renal cysts | multiple retinal hamartomas | single cardiac tumors | TSC1 mutation | |
16/20 | 17/18 | 71/76 | 35/35 | 2/2 | 8/8 | 5/7 | 14/98 | 2/3 | ||
80.0% | 94.4% | 93.4% | 100.0% | 100.0% | 100.0% | 71.4% | 14.3% | 66.7% | ||
cortical dysplasia | cortical dysplasia | cortical dysplasia | – | – | – | Achromic patch | multiple cardiac tumors | TSC2 mutation | ||
7/20 | 3/18 | 66/76 | 2/7 | 84/98 | 1/3 | |||||
35.0% | 16.7% | 86.8% | 28.6% | 85.7% | 33.3% | |||||
SEGA | SEGA | SEGA | – | – | – | – | – | NMI | ||
1/20 | 1/18 | 5/76 | 0/3 | |||||||
5.0% | 5.6% | 6.5% | 0.0% | |||||||
Average age | of first examination performed within the first 16 weeks of life (weeks) | – | 1.6 (±3.0) | 5.0 (±4.8) | 3.7 (±3.9) | 9.1 (±6.5) | 1.9 (±3.4) | 5.3 (±5.3) | 1.9 (±3.7) | – |
Median age | – | 0.4 | 3.0 | 2.5 | 7.0 | 0.6 | 2.6 | 0.3 | – | |
Average age | of pathological lesions onset within the first 16 weeks of age (weeks) | – | 1.0 (±1.6) | 5.0 (±4.6) | 8.6 (±5.9) | 11.9 (±7.0) | 0.4 (±0.6) | 3.8 (±5.4) | 2.7 (±4.3) | 10.5 (±4.6) |
Median age | – | 0.1 | 3.0 | 8.9 | 11.9 | 0.1 | 1.0 | 0.8 | 11.1 | |
Average age | of last examination within the first 16 weeks of life (weeks) | – | 2.5 (±3.8) | 5.7 (±5.1) | 12.0 (±5.3) | 9.1 (±6.5) | 3.1 (±5.9) | 5.9 (±5.4) | 4.5 (±4.9) | – |
Median age | – | 0.7 | 3.5 | 14.3 | 7.0 | 1.2 | 4.9 | 1.7 | – |