淮北地区195例自然流产绒毛细胞染色体核型分析

    Karyotype Analysis of Chorionic Villus Cells in 195 Cases of Spontaneous Abortion in the Huaibei Region

    • 摘要:
      目的: 探讨自然流产妇女绒毛细胞染色体核型与流产发生原因的相关性。
      方法: 选取2023年1月至2025年4月就诊于妇科病区的胚胎或胎儿停育妇女为研究对象,对于药物引流未能完全排出流产组织的稽留流产妇女行清宫术获取流产组织后,采用原代细胞培养获取贴壁细胞,收获分裂期细胞后进行染色体制备并行染色体核型分析,比较稽留流产妇女的年龄、孕周、流产次数、妊娠方式、胚胎性别与染色体核型异常的关联,检测出染色体结构异常的绒毛样本进一步检测其父母的外周血染色体核型。
      结果: 195例稽留流产绒毛标本培养成功180例,成功率为92.31%。共检出88例染色体异常核型,核型异常率为48.89%,其中包括染色体数目异常83例(94.32%),染色体结构异常5例(5.68%)。≥35岁妇女流产绒毛的核型异常率为63.41%,高于<35岁的异常率44.60%(P < 0.05);孕周≤12周妇女流产绒毛的核型异常率58.02%,高于怀孕>12周妇女的异常率24.49%(P < 0.01);妇女的流产绒毛核型异常率在按流产次数、妊娠方式和胚胎性别分组的组间差异均无统计学意义(P > 0.05)。
      结论: 胚胎染色体异常是妊娠期妇女发生胚胎停育、自然流产的重要原因;高龄孕妇(≥35岁)和孕早期(≤12周)是孕妇自然流产绒毛染色体核型异常的高危因素;通过对自然流产孕妇绒毛行染色体核型分析,可以为流产妇女再次妊娠提供诊疗建议。

       

      Abstract:
      Objective To investigate the correlation between chromosome karyotype of villus cells and causes of abortion in spontaneous abortion patients.
      Methods From January 2023 to April 2025, women diagnosed with embryonic or fetal arrest in the gynecology department were selected as the study objects. Uterine clearance was performed for missed abortion patients who failed to completely discharge the embryonic tissue by medical drainage to obtain the abortion tissue. Primary cell culture was used to isolate adherent cells, and metaphase cells were harvested for chromosome preparation and karyotype analysis. The correlations between the age, gestational week, number of abortions, mode of pregnancy, fetal sex and chromosome karyotype abnormality of the pregnant women with missed abortion was compared. If the villi sample with chromosome structure abnormality was detected, the chromosome karyotype of the peripheral blood of the parents was further detected.
      Results Among 195 cases of missed abortion, 180 cases of chorionic villus specimens were successfully cultured, with a success rate of 92.31%. A total of 88 cases of chromosomal abnormal karyotypes were detected, with an abnormal karyotype rate of 48.89%. Among them, there were 83 cases (94.32%) of chromosomal number abnormalities and 5 cases (5.68%) of chromosomal structure abnormalities. The abnormal karyotype rate of miscarriage of chorionic villi in women aged ≥35 years was 63.41%, which was higher than the abnormal rate of 44.60% in women aged < 35 years (P < 0.05). The abnormal karyotype rate of miscarriage villi in women with a gestational age of ≤12 weeks was 58.02%, which was higher than the abnormal rate of 24.49% in women with a gestational age of > 12 weeks (P < 0.01). There was no statistically significant difference in the abnormal rate of villus karyotype during miscarriage among women grouped by the number of miscarriages, pregnancy mode and embryo gender (P > 0.05).
      Conclusions Embryonic chromosome abnormality is a major cause of embryo termination and spontaneous abortion in pregnant women. Advanced maternal age (≥35 years old) and the first trimester of pregnancy (≤12 weeks) are high-risk factors for chromosomal karyotype abnormalities in chorionic villi during spontaneous abortion in pregnant women. Chromosomal karyotype analysis of chorionic villi from women with spontaneous abortion can provide valuable diagnostic and therapeutic guidance for future pregnancies.

       

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