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New insight about early miscarriage: a prenatal data-based study

Year: 2026

Type: article

Abstract: BACKGROUND: Early miscarriage, a common pregnancy complication predominantly occurring before 12 weeks, is conclusively linked to embryonic chromosomal abnormalities. Given the rising proportion of pregnancies at advanced maternal age, a contemporary re-examination of the relationships among early miscarriage, sex chromosomal anomalies, and maternal age is imperative to optimize clinical counseling strategies. METHODS: This retrospective study analyzed cases from the Medical Genetics and Prenatal Diagnosis Center at the Third Affiliated Hospital of Zhengzhou University (July 2022–December 2024). Inclusion criteria required fetal samples with < 10% maternal cell contamination confirmed by fluorescent PCR-capillary electrophoresis. Exclusion criteria included absence of CNV-seq/CMA testing results, discordant results, incomplete documentation, or donor oocyte pregnancies. Cases were stratified into early miscarriage (EM) group and non-EM (NEM) group. Chromosomal abnormalities (triploidy/tetraploidy, uniparental disomy and aneuploidies involving chromosomes 21, 18, 13, X, and Y), fetal sex, and maternal age were compared between groups. RESULTS: In a cohort of 21,311 fetuses undergoing genetic testing, the overall prevalence of sex chromosome aneuploidies (SCAs) was 2.07%. Fetuses with EM exhibited significantly higher SCAs prevalence (7.5%) compared to NEM (1.4%, P < 0.001). Stratified analysis demonstrated elevated 45, X/mosaic 45, X frequency in EM (7.03% vs. 0.40% NEM, P < 0.001), whereas XYY/XXY/XXX/mosaic XXX was significantly lower in EM (0.34% vs. 0.97% NEM, P = 0.002). The EM rate increased with maternal age from 15 to 27 years, stabilized around 13% thereafter, and showed minor fluctuations. Maternal age was significantly lower in cases with 45,X compared to other cases (29.88 ± 4.15 vs. 31.43 ± 4.50 years, P < 0.001). CONCLUSIONS: This observational study identified an overall SCAs prevalence of 2.07% in the cohort. Beyond sex chromosome trisomies, autosomal trisomies and 45, X demonstrated higher prevalence in the EM compared to NEM. A positive correlation existed between chromosomal trisomies prevalence and advancing maternal age, whereas 45, X exhibited inverse association with maternal aging. Distinct age-stratified pattern emerged: early miscarriage rates increased with maternal age before 27 years, stabilizing thereafter at approximately 13% without further age-dependent fluctuations.

Source: Journal of Translational Medicine

DOI: 10.1186/s12967-026-08096-z