Table 2. Number and detection rate of congenital adrenal hyperplasia cases by disease type.
| CAH Type | One-Screen States | Two-Screen States | ||||
|---|---|---|---|---|---|---|
| Total Cases (Detection rate) | Total Cases (Detection rate) | |||||
| First Screen N (%)c | Targeted 2nd Screen N (%)c | Delayed Dxa or Unknownb N (%)c | First Screen N (%)c | 2nd Screen N (%)c | Delayed Dxa or Unknownb N (%)c | |
| Salt-Wasting | 75 (1/23,208) | 139 (1/18,918) | ||||
| 69 (70%) | 2 (2%) | 4 (4%) | 125 (45%) | 9 (3%) | 5 (2%) | |
| Simple Virilizing | 14 (1/124,328) | 45 (1/58,436) | ||||
| 12 (12%) | 0 (0%) | 2 (2%) | 20 (7%) | 23 (8%) | 2 (0.5%) | |
| Non-classical | 8 (1/217,573) | 81 (1/32,465) | ||||
| 5 (5%) | 3 (3%) | 0 (0%) | 17 (7%) | 60 (22%) | 4 (1.5%) | |
| Not Specified | 2 (2%) | 0 (0%) | 0 (0%) | 3 (1%) | 7 (3%) | 0 (0%) |
| Total CAH Cases | 99 (1/17,500) | 275 (1/9,500) | ||||
| 88 (89%) | 5 (5%) | 6 (6%) | 165 (60%) | 99 (36%) | 11 (4%) | |
a
Delayed diagnosis were cases not detected by newborn screening
b
An unknown case had an initial specimen submitted for newborn screening that was deemed unsatisfactory by the laboratory; the case was detected on a subsequent screening specimen, but because of the initial unsatisfactory specimen, it is unknown whether the case would have been detected on the first screen.
c
Percent indicates the proportion of the total (i.e., percent of 99 cases for the one-screen states and percent of 275 cases for the two-screen states)
CAH=congenital adrenal hyperplasia; N=number; Dx=diagnosis