CAJ | 학술논문

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1140例，成功率为98．2％（1140／1160），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。
목적：평개융모세포염색체핵형분석재잉조기산전진단중적응용개치。방법대유산전진단지정적잉부재 B 초인도하경복융모천자추취융모조직행세포배양、염색체제비급핵형분석。결과성공배양융모세포1140례，성공솔위98．2％（1140／1160），공검측출62례염색체비다태성결구이상。기중포괄32례염색체수목이상，5례염색체평형역위，3례염색체결실，22례감합체。동시환검측출20례염색체도위，포괄19례9호염색체도위，1례 Y 도위。결론잉조기융모세포염색체검사능급조발현태인염색체이상병조기간예，대우감소염색체기형인적출생구유중요적의의。
Objective To evaluate the value of chorionic villus cells karyotype analysis in prenatal diagnosis during the first tri-mester 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 to-tal of 1 140 cases were successfully cultured,and the successful cultivating rate was 98.2% (1 140/1 160).Among them,chromo-somes of 62 cases were detected to be non-polymorphic structural abnormalities,including 32 abnormal chromosome number,5 chro-mosome balanced translocation,3 chromosome deletion,and 22 chimeras.What′s more,20 cases were detected to be chromosomal inversion,19 cases of chromosome 9 were 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.