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Table 5 Transmission risks to offspring for isolated cases of Neurofibromatosis type 2 before and after negative mutation testing.

From: Neurofibromatosis type 2 (NF2): A clinical and molecular review

 

Number

PRE testing Mosaic inferred

PRE testing Transmission risk

POST genetic negative testing in blood Mosaic inferred

POST genetic negative testing in blood Transmission risk

< 20 BVS

85

12%

45%

46%

30% 1 in 3

< 20 UVS

21

42%

33%

87%

11% 1 in 9

20–29 BVS

67

27%

36%

78%

16% 1 in 6

20–29 UVS

27

78%

19%

97%

8% 1 in 12

30–39 BVS

54

50%

28%

88%

11% 1 in 9

30–39 UVS

19

85%

12%

98%

6% 1 in 16

40+ BVS

53

63%

22%

93%

9% 1 in 11

40+ UVS

34

90%

10%

99%

5% 1 in 20

  1. Results are based of outcomes of testing in first affected family members and on age at onset and laterality of presentation with vestibular schwannomas (VS).
  2. BVS – presentation with bilateral VS; UVS – initial presentation with unilateral VS