Cytogenetic analysis of couples with recurrent pregnancy loss in taiwan: A retrospective study of 451cases

OBJECTIVE: To evaluate the independent impact of age and gender on the prevalence of clinically significant chromosomal abnormalities in couples with recurrent pregnancy loss (RPL) and to provide Taiwanese clinicians with local genetic data for genetic counseling. MATERIALS AND METHODS: A 5-year retrospective study of 451 individuals (239 females and 212 males) was conducted at a tertiary referral center in Taiwan from 2021 to 2025. Karyotyping was performed by means of G-banding with resolution >550 band level. Common polymorphic variants, such as inv (9) (p12q13) and inv(Y) (p11.2q11.2), were excluded to assess refined cytogenetic risks. Multivariable logistic regression was utilized to calculate adjusted odds ratios (aOR). RESULTS: The prevalence of clinically significant chromosomal abnormalities was 4.43% (20/451). Female gender was identified as a significant independent predictor of abnormality (aOR = 3.70, 95%CI: 1.206-11.346, p = 0.022) after adjusting for age. The distribution of chromosomal abnormalities in 4 different age groups (≦30, 31-35, 36-40, ≧40) did not show significance difference (4.69%, 5.33%, 3.87%, 3.66%. p = 0.909) Both numerical chromosomal aberrations (e.g., sex chromosome mosaicism) and structural rearrangements (e.g., reciprocal and Robertsonian translocations) were more prevalent among females. Notably, females exhibited a predominant higher risk of sex chromosome mosaicism compared with males (aOR = 11.518, 95%CI: 1.454-91.253, p = 0.021) even after adjusting for age. CONCLUSIONS: Female gender is a predominant factor for chromosomal abnormalities in RPL, largely attributed to sex chromosome mosaicism and chromosomal translocations. These genetic risks are independent of reproductive age, highlighting the necessity of universal parental karyotyping for all RPL couples, regardless of age, to optimize clinical management.