Acrocentric Chromosome Polymorphic Variants on Chinese Female Have Possible Association with Unexplained Recurrent Pregnancy Loss.

Abstract

Recurrent pregnancy loss (RPL) occurs frequently in Chinese patients, but the causes for 40-50% RPL remain unexplained. This study aims to explore possible association between recurrent pregnancy loss and chromosome polymorphism. We performed a retrospective cohort study including a total number of 2967 Chinese patients from January in 2013 to December in 2019.These participants were divided into two groups: group I (RPL group) and group II (control group). Group I included 1791 patients who underwent RPL. Group II included 1176 individuals who underwent primary infertility. Their chromosome karyotype analyses were performed by Giemsa banding protocol. Pearson chi-squared test and Fisher's exact test were employed to evaluate the difference in frequency of chromosomal polymorphic variations between both groups. Chromosomal polymorphism occurred more frequently in RPL group compared with control group, the differences for 9qh+, inv(9), and Yqh+ between both groups were (χ2 = 6.697, p = 0.01), (χ2 = 6.242, p = 0.012), and (χ2 = 4.587, p = 0.032), respectively. The most significant difference of chromosomal polymorphism karyotype between RPL group and control group was found for acrocentric chromosome (D/G group) variants (χ2 = 30.7, p < 0.001). Moreover, the difference in frequency of D/G group variants between women and men in RPL group was remarkably significant (χ2 = 55.3, p < 0.001), and furthermore, D/G group variants occurred more frequently among women in RPL group than women in control group (χ2 = 44.3, p < 0.001). We found that acrocentric chromosomal polymorphism occurred preferentially on Chinese women with RPL. The fascinating finding provides us novel insight into the potential association of higher frequency of acrocentric chromosomal variations on Chinese women with unexplained RPL.