Background While diminished ovarian reserve (DOR) is a risk factor for aneuploid pregnancies, its role in women with a history of aneuploid pregnancy remains poorly understood. Anti-Müllerian hormone (AMH) is an effective biomarker for assessing ovarian reserve. This study evaluated ovarian reserve in women with aneuploid pregnancy history and whether serum AMH concentration is a predictive indicator of aneuploidy risk. Methods A case–control study was conducted among 82 women with aneuploid pregnancy history and 35 with healthy pregnancies at the Affiliated Hospital of Inner Mongolia Medical University between January 2018 and November 2024. Based on the history of polycystic ovary syndrome (PCOS) before pregnancy, the participants were categorised into case groups 1 (without PCOS, n = 70) and 2 (with PCOS, n = 12). Mann–Whitney U test was used to compare age and AMH levels between the case and control groups. A logistic regression model was employed to analyse the relationship between serum AMH concentration and the occurrence of aneuploidy, whereas receiver operating characteristic curve analysis was used to evaluate the predictive value of serum AMH level for aneuploidy in women. Ovarian reserve in these cases was categorised as DOR (AMH level < 1.2 ng/mL), good ovarian reserve (AMH level 1.2–7 ng/mL), and PCOS tendency (AMH level > 7 ng/mL). Results No significant differences in age and serum AMH concentration were found between the case and control groups (mean age, 32.60 and 31.97 years; mean AMH, 3.47 ng/mL and 3.22 ng/mL, respectively). Women in case group 2 (n = 12) exhibited significantly higher serum AMH concentration (mean AMH, 8.66 ± 3.09 ng/mL vs. 3.22 ± 1.46 ng/mL, p = 0.001), whereas those in case group 1 demonstrated significantly lower levels than the controls (2.58 ± 1.49 ng/mL vs. 3.22 ± 1.47 ng/mL, p = 0.045). Low serum AMH concentrations predicted aneuploid pregnancy (odds ratio: 0.752, 95% confidence interval: 0.570–0.991, p = 0.043), and the area under the predicted risk curve was 0.62. Among the cases, 15.85% presented with DOR. Conclusions This study indicates that low AMH concentration may be a high-risk factor for aneuploidy. However, ovarian reserve appears to remain within the normal range in most women with a history of aneuploid pregnancy. These findings provide a new perspective for understanding the occurrence of aneuploidy.

Relationship between anti-Müllerian hormone concentration in the peripheral blood of women and aneuploid pregnancy

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2026年5月25日

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Xiao Xi Zhao

摘要

Background

While diminished ovarian reserve (DOR) is a risk factor for aneuploid pregnancies, its role in women with a history of aneuploid pregnancy remains poorly understood. Anti-Müllerian hormone (AMH) is an effective biomarker for assessing ovarian reserve. This study evaluated ovarian reserve in women with aneuploid pregnancy history and whether serum AMH concentration is a predictive indicator of aneuploidy risk.

Methods

A case–control study was conducted among 82 women with aneuploid pregnancy history and 35 with healthy pregnancies at the Affiliated Hospital of Inner Mongolia Medical University between January 2018 and November 2024. Based on the history of polycystic ovary syndrome (PCOS) before pregnancy, the participants were categorised into case groups 1 (without PCOS, n = 70) and 2 (with PCOS, n = 12). Mann–Whitney U test was used to compare age and AMH levels between the case and control groups. A logistic regression model was employed to analyse the relationship between serum AMH concentration and the occurrence of aneuploidy, whereas receiver operating characteristic curve analysis was used to evaluate the predictive value of serum AMH level for aneuploidy in women. Ovarian reserve in these cases was categorised as DOR (AMH level < 1.2 ng/mL), good ovarian reserve (AMH level 1.2–7 ng/mL), and PCOS tendency (AMH level > 7 ng/mL).

Results

No significant differences in age and serum AMH concentration were found between the case and control groups (mean age, 32.60 and 31.97 years; mean AMH, 3.47 ng/mL and 3.22 ng/mL, respectively). Women in case group 2 (n = 12) exhibited significantly higher serum AMH concentration (mean AMH, 8.66 ± 3.09 ng/mL vs. 3.22 ± 1.46 ng/mL, p = 0.001), whereas those in case group 1 demonstrated significantly lower levels than the controls (2.58 ± 1.49 ng/mL vs. 3.22 ± 1.47 ng/mL, p = 0.045). Low serum AMH concentrations predicted aneuploid pregnancy (odds ratio: 0.752, 95% confidence interval: 0.570–0.991, p = 0.043), and the area under the predicted risk curve was 0.62. Among the cases, 15.85% presented with DOR.

Conclusions

This study indicates that low AMH concentration may be a high-risk factor for aneuploidy. However, ovarian reserve appears to remain within the normal range in most women with a history of aneuploid pregnancy. These findings provide a new perspective for understanding the occurrence of aneuploidy.