| Table 4. Comparative results of the frequency of alterations in different studies. | |||||
| Study | Study design | Karyotype |
CFTR variants | SMN1 deletion carriers | FMR1- |
|---|---|---|---|---|---|
| This study | 581 female gamete donors | 0.9% | 1.7%* 8.1%† |
2.8% | 0.2% |
| Soares et al., 2023 | 63 female and 34 male gamete donors | 1.03% | 5.2%* | 2.1% | 1.6% |
| Payne et al., 2021 | 136 female gamete donors | 4.4%* | 0% | 1.5% | |
| Zhang et al., 2020 | 13069 pregnant women | 1.77% | |||
| Archibald et al., 2018 | 12000 individuals | 2.9%* | 2.0% | 0.3% | |
| Urbina et al., 2017 | 127 females and 16 males | 4.2%* | 1.4% | 0% | |
| Ben-Shachar et al., 2011 | 6394 individuals | 2.5% | |||
*Values for the pathogenic CFTR variants;
ⴕValue for the PolyT 5T allele.