Skip to main content

Advertisement

Table 1 Clinical tests performed prenatally or during the first 16 weeks of age in our cohort

From: Early diagnosis of tuberous sclerosis complex: a race against time. How to make the diagnosis before seizures?

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
  1. TUS (transfontanelle ultrasonography), abdominal US (abdominal ultrasonography), SE (skin examination), OE (ophthalmological examination), PE (postnatal echocardiography); SEN (subependymal nodules), cortical dysplasia includes cortical tubers and white matter migration lines, SEGA (subependymal giant cell astrocytoma), HMs - hypomelanotic macules, NMI - no mutation identified