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母亲年龄、流产史和胚胎/胎儿大小与自发性早期流产的细胞遗传学结果有关。

Maternal age, history of miscarriage, and embryonic/fetal size are associated with cytogenetic results of spontaneous early miscarriages.

机构信息

Center for Maternal-Fetal, Neonatal and Reproductive Medicine, National Center for Child Health and Development, 2-10-1 Okura, Setagaya-ku, Tokyo, 157-8535, Japan.

出版信息

J Assist Reprod Genet. 2019 Apr;36(4):749-757. doi: 10.1007/s10815-019-01415-y. Epub 2019 Feb 9.

Abstract

PURPOSE

To clarify the associations of the maternal age, history of miscarriage, and embryonic/fetal size at miscarriage with the frequencies and profiles of cytogenetic abnormalities detected in spontaneous early miscarriages.

METHODS

Miscarriages before 12 weeks of gestation, whose karyotypes were evaluated by G-banding between May 1, 2005, and May 31, 2017, were included in this study. The relationships between their karyotypes and clinical findings were assessed using trend or chi-square/Fisher's exact tests and multivariate logistic analyses.

RESULTS

Three hundred of 364 miscarriage specimens (82.4%) had abnormal karyotypes. An older maternal age was significantly associated with the frequency of abnormal karyotype (p < 0.001), particularly autosomal non-viable and viable trisomies (p 0.001 and 0.025, respectively). Women with ≥ 2 previous miscarriages had a significantly lower possibility of miscarriages with abnormal karyotype than women with < 2 previous miscarriages (adjusted odds ratio [aOR], 0.48; 95% confidence interval [95% CI], 0.27-0.85). Although viable trisomy was observed more frequently in proportion to the increase in embryonic/fetal size at miscarriage (p < 0.001), non-viable trisomy was observed more frequently in miscarriages with an embryonic/fetal size < 10 mm (aOR, 2.41; 95% CI, 1.27-4.58), but less frequently in miscarriages with an embryonic/fetal size ≥ 20 mm (aOR, 0.01; 95% CI, 0.00-0.07) than in anembryonic miscarriages.

CONCLUSIONS

The maternal age, history of miscarriage, and embryonic/fetal size at miscarriage may be independently associated with the frequencies or profiles of cytogenetic abnormalities in early miscarriages.

摘要

目的

阐明母体年龄、流产史和流产时胚胎/胎儿大小与自发性早期流产中细胞遗传学异常的频率和类型之间的关系。

方法

本研究纳入了 2005 年 5 月 1 日至 2017 年 5 月 31 日期间通过 G 显带技术进行核型分析的 12 周内妊娠丢失病例。使用趋势检验或卡方/Fisher 确切概率检验和多变量逻辑回归分析评估其核型与临床发现之间的关系。

结果

364 例流产标本中有 300 例(82.4%)存在核型异常。母体年龄越大,异常核型的频率越高(p<0.001),尤其是常染色体非致死性和致死性三体(p<0.001 和 0.025)。与流产前有<2 次流产史的妇女相比,流产前有≥2 次流产史的妇女发生异常核型流产的可能性显著降低(调整优势比[aOR],0.48;95%置信区间[95%CI],0.27-0.85)。尽管随着流产时胚胎/胎儿大小的增加,活体细胞三体的比例增加(p<0.001),但在胚胎/胎儿大小<10mm 的流产中,非致死性三体更常见(aOR,2.41;95%CI,1.27-4.58),而在胚胎/胎儿大小≥20mm 的流产中则少见(aOR,0.01;95%CI,0.00-0.07),与无胚胎流产相比。

结论

母体年龄、流产史和流产时胚胎/胎儿大小可能与早期流产中细胞遗传学异常的频率或类型独立相关。

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