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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