1160例孕早期绒毛染色体细胞遗传学分析

Analysis of fetal chromosomal karyotypes in 1160 pregnant women during the first trimester of gestation

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抽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1 140例,成功率为98.2%(1 140/116 0),共检测出62例染色体非多态性结构异常。其中包括32例染色体数目异常,5例染色体平衡易位,3例染色体缺失,22例嵌合体。同时还检测出20例染色体倒位,包括19例9号染色体倒位,1例Y倒位。结论孕早期绒毛细胞染色体检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。

Objective To evaluate the value of chorionic villus cells karyotype analysis in prenatal diagnosis during the first trimester of pregnancy.Methods Pregnant women with prenatal diagnosis indications were punctured by guiding abdominal B-mode ultrasound to get villi tissue which was then to develop cell culture,chromosome preparation and karyotype analysis.Results A total of 1 140 cases were successfully cultured,and the successful cultivating rate was 98.2%（1 140/1 160）.Among them,chromosomes of 62 cases were detected to be non-polymorphic structural abnormalities,including 32 abnormal chromosome number,5chromosome balanced translocation,3chromosome deletion,and 22 chimeras.What′s more,20 cases were detected to be chromosomal inversion,19 cases of chromosome 9were inversion,and one with chromosome Y was inversion.Conclusion Karyotype analysis of villus cell could help to detect fetal chromosomal abnormalities during early pregnancy and get early intervention.It was significant to reduce the child′s birth with chromosome abnormalities.