Thalassemia does not significantly affect embryo ploidy outcomes in women undergoing IVF with preimplantation genetic testing

TL;DR

Thalassemia does not significantly impact embryo ploidy in IVF, but a slight decrease is seen in women aged 35–40.

Contribution

This study is the first to show that thalassemia carrier status does not broadly affect embryo euploidy in IVF with PGT-A.

Findings

Thalassemia carrier status does not significantly affect embryo euploidy after adjusting for age, BMI, and AMH.

A mild decrease in euploid embryo proportion was observed in thalassemia women aged 35–40.

Initial unadjusted differences in blastocyst and euploid embryo numbers disappeared after adjustment.

Abstract

Thalassemia is a common autosomal recessive disorder that may impact reproductive health and embryo development. However, limited information is available regarding the impact of thalassemia carrier status on embryo euploidy, developmental competence, and embryo availability. Therefore, this study aims to evaluate the effects on women with thalassemia by analyzing data from women undergoing IVF with PGT-A.

This retrospective cohort study included 2,110 women undergoing IVF with trophectoderm biopsy and PGT-A at Guangzhou Women and Children’s Medical Center Liuzhou Hospital between January 2019 and December 2024. Women were grouped by thalassemia status (955 with thalassemia vs. 1,155 without). Statistical analyses included the use of the Mann-Whitney U test for continuous variables, Chi-square test for categorical variables, and regression models (Poisson for the number of euploid embryos and linear for the proportion of euploid embryos). Adjustments were made for potential confounders, and statistical significance was set at a two-sided p-value <0.05.

After adjusting for key confounders including age, BMI, and AMH, no differences were observed between thalassemia and non-thalassemia women in embryo euploidy outcomes (adjusted RR for biopsied blastocysts: 1.06, 95% CI: 0.99–1.13; euploid embryos: 0.96, 95% CI: 0.86–1.08; proportion of euploid embryos: β = −0.03, 95% CI: −0.07–0.01). Although women with thalassemia initially showed higher numbers of biopsied blastocysts and euploid embryos in unadjusted analyses, these differences disappeared after adjustment. Further age-stratified analyses showed a slightly lower adjusted euploid proportion among thalassemia women aged 35–40 years (β = −0.07, 95% CI: −0.13 to −0.01), while no significant differences were observed in other age groups.

Overall, no significant differences were observed after adjustment for age, BMI, and AMH; however, a mild decrease in euploid proportion was noted among thalassemia women aged 35–40 years. These findings suggest that thalassemia does not generally impair embryo chromosomal integrity but that careful counseling may be warranted in this specific age group.

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