499例流产绒毛细胞遗传学分析及总结

Cytogenetic Analysis of 499 Cases of Chorionic Villus in Abortion

摘要: 目的：分析自然流产的绒毛染色体情况，探讨绒毛细胞染色体异常与孕早期自然流产间的临床关系。方法：收集499例妊娠早期自然流产患者的绒毛组织，采用Array-CGH进行核型分析，分析流产绒毛染色体异常情况。结果：本组499例绒毛组织均成功获得Array-CGH检查结果，检测成功率100.0%。Array-CGH检出染色体异常251例，异常率50.30% (251/499)，包括单条染色体数目异常211例(84.06%)，两条染色体数目异常14例(5.58%)，三倍体1例(0.40%)，缺失或重复25例(9.96%)。结论：胚胎染色体异常是早期自然流产的重要原因，Array-CGH检测方法分辨率高、准确快速，是诊断流产组织遗传学的可靠方法，具有较高的临床应用价值。

Abstract: Objectives: To analyze the chromosome of chorionic villus in spontaneous abortion, and to explore the relationship between chromosomal abnormalities of villus cells and spontaneous abortion in early pregnancy. Methods: The villus tissues of 499 cases of spontaneous abortion in early preg-nancy were collected, and karyotype analysis was performed by Array-CGH. Results: 499 cases of villus were successfully obtained array-CGH examination results, and the detection success rate was 100.0%. 251 cases of chromosomal abnormalities were detected by array-CGH, and the abnormal rate was 50.30% (251/499), including 211 cases (84.06%) of single chromosome number abnormality, 14 cases (5.58%) of two chromosomes, 1 case (0.40%) of triploid and 25 cases (9.96%) of deletion or repetition. Conclusion: Fetal chromosomal abnormality is an important cause of early spontaneous abortion. The array-CGH detection method is high resolution, accurate and rapid. It is a reliable method to diagnose the genetics of abortion and has high clinical value.