Table 2 Results of spinal muscular dystrophy carrier screening
Variable | 2020.12 | 2021.01–2021.12 | 2022.01–2022.04 | Total |
|---|---|---|---|---|
Screened women (n) | 412 | 3,669 | 1,119 | 5,200 |
Number of carriers | 1 | 50 | 24 | 75 |
Carrier rate | 0.24% | 1.36% | 2.14% | 1.44% |
95% CI | 0.17–0.31% | 1.20–1.52% | 1.91–2.35% | 1.31–1.65% |
Partner (n) | 0 | 30 | 17 | 47 |
Recall rate | / | 60.00% | 70.83% | 62.67% |
95% CI | / | 59.32–60.68% | 70.20–71.46% | 62.00–63.34% |
Carrier couples | / | 2 | 1 | 3 |
Prenatal diagnoses (n) | / | 2 | 1 | 3 |
Affected cases (n) | / | 1 | 0 | 1 |
Pregnancies terminated | / | 1 | 0 | 1 |