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自然流产的遗传学研究进展
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Abstract:
自然流产是妊娠期间最常见的并发症，指妊娠周数小于28周，胎儿重量不足1000 g且胎儿达到生存能力之前临床确定的宫内妊娠而中止者。自然流产的细胞遗传学问题大致包括以下两个领域：一是胚胎染色体变异即染色体数量和结构异常；夫妇染色体变异是另一领域。胚胎染色体数量异常的检出率大致为90%。在夫妻双方染色体中，有3.5%的胚胎停育或自然流产与其平衡易位或罗伯逊易位有明显关联性。流产的遗传学领域在临床实践中越来越成熟，从传统的核型分析和荧光原位杂交到高通量测序等细胞遗传学分析方法的陆续应用。因此，分析自然流产的遗传学研究进展，尤其是对流产胎儿病因分析和育龄妇女的下次妊娠指导均具有重要意义。
The termination of an embryonic pregnancy at a gestational age of the less than 28 weeks, with a fetal weight of less than 1000 g, and before the fetus reaches viability is known as a spontaneous abortion. The two main cytogenetic elements of spontaneous abortion are embryonic chromosomal variation, or anomalies in chromosomes quantity and structure, and couple chromosomal variation. In embryos, chromosomal number abnormalities are found at a rate of almost 90%. 3.5% of spon-taneous miscarriages or abortions of the embryos are significantly related to the couple’s chromo-somes. The field of genetics of miscarriage is becoming increasingly sophisticated in clinical prac-tice, from traditional karyotyping and fluorescent in situ hybridisation to the application of cytoge-netic methods such as high throughput sequencing. It is therefore important to analyse advances in the genetics of spontaneous abortion, especially for the analysis of the etiology of aborted fetuses and for the guidance of women of childbearing age in their next pregnancy.
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