451例孕早期绒毛染色体结果分析

目的评价绒毛细胞染色体核型分析在孕早期产前诊断中的应用价值。方法对有产前诊断指征的孕妇在B超引导下经腹绒毛穿刺取绒毛组织行细胞培养、染色体制备及核型分析。结果成功培养绒毛细胞451例,培养成功率为97.41%,共发现胎儿染色体核型异常136例,异常检出率为30.16%。136例异常核型中染色体数目异常79例（58.09%）,其中包括常染色体三体型55例,性染色体数目异常23例,三倍体1例。检出染色体结构异常11例,嵌合体16例,染色体多态性30例。超声筛查胎儿异常及夫妇染色体结构异常携带这两个指征检出胎儿染色体异常率最高。结论孕早期绒毛细胞染色体检查结合孕早期超声筛查及血清学筛查能及早发现胎儿染色体异常并早期干预,对于减少染色体畸形儿的出生具有重要的意义。

Analysis of 451 cases chromosome karyotype of chorionic villi samples at early pregnancy

Objective To evaluate the clinical application value of analyzing karotypes of chorionic villus samples in early prenatal diagnosis. Methods The pregnant women with the indications of prenatal diagnosis were performed transabdominal chorionic villus sampling via the guidance of B-mode ultrasound. Cytogenetic cultures, chromosome preparation and karyotyping were performed. Results 451 cases were successfully cultured, with the success rate of cell culture of 97.41%. 136 cases were found with abnormal karotypes , the overall incidence of chromosomal abnormalities was 30.16% . 79 of 136 women diagnosed with chromosome number abnormalities , of which 55 cases were autosome trisomys . 23 cases were with sex chromosome number abnormalities and one case was triploid. 11 women were diagnosed with chromosome structural abnormality , 16 were mosaic and 30 were chromosome polymorphism. Abnormal karotype results were most likely found in indications of ultrasound screening abnormal fetus and of parents who carried structural abnormal chromosomes. Conclusion Early pregnancy villi cell chromosome examination combined ultrasound and serum screening can detect fetal chromosome aberrations at an early stage and make early intervention possible , which has great significance for minimizing the birth of chromosome abnormal children.