Table 6.
Probabilities That an Unaffected Child Who Has Been Tested after Birth and Has Been Found to Carry a Homozygous Absence of SMN1 Will Develop Type I, II, or III SMA, on the Basis of Number of SMN2 Copies
Probability ofDeveloping SMA |
|||
Probability Type andNo. of SMN2 Copies | Type I | Type II | Type III |
Prior probabilities | .51 | .32 | .17 |
Conditional probabilities (OR):a | |||
One copy | 1.00 | <.001 | <.001 |
Two copies | 1.00 | .044 | .0145 |
Three copies | 1.00 | 18.4 | 4.19 |
Four copies | 1.00 | 14.7 | 156.7 |
Joint probabilities: | |||
One copy | .51 | <.00032 | <.00017 |
Two copies | .51 | .0141 | .000255 |
Three copies | .51 | 5.89 | .712 |
Four copies | .51 | 4.70 | 26.6 |
Posterior probabilities (%): | |||
One copy | >99.9 | <.1 | <.1 |
Two copies | 97.26 | 2.7 | .04 |
Three copies | 7.2 | 82.8 | 10.0 |
Four copies | 1.6 | 14.8 | 83.6 |
The OR for one copy was used as a reference and was fixed to unity.