Table 4. Comparative results of the frequency of alterations in different studies.
Study Study design Karyotype alterations CFTR variants SMN1 deletion carriers FMR1- premutation
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;
Value for the PolyT 5T allele.