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目的分析1516例妊娠中期孕妇羊水细胞染色体核型,探讨羊膜腔穿刺术的指征以及羊膜腔穿刺术对胎儿染色体的诊断意义。方法 1516例有产前诊断指征的孕妇,在超声引导下行羊膜腔穿刺术,抽取羊水20毫升进行羊水细胞培养及染色体核型分析。结果发现异常核型66例,异常核型检出率为4.22%(64/1516)。其中21-三体10例,18-三体1例,13-三体1例,45,XO 5例,47,XXX 5例,47,XYY 2例,47,XXX 5例,69,XXX 1例,48,XXX+18 1例,结构异常33例,嵌合3例。结论羊水细胞培养及染色体核型分析可以在妊娠中期对胎儿染色体结构和数目异常作出产前诊断,是目前安全、有效、最可靠的进行胎儿染色体病产前诊断的方法。
Objective To analyze the chromosomal karyotypes of 1516 pregnant women with amniotic fluid during the second trimester of pregnancy and to explore the indications of amniocentesis and the diagnostic significance of amniocentesis to fetal chromosomes. Methods A total of 1516 pregnant women with prenatal diagnosis were enrolled in this study. Amniocentesis was performed under the guidance of ultrasound. 20ml of amniotic fluid was drawn for amniotic fluid cell culture and karyotype analysis. The results showed that there were 66 cases of abnormal karyotype, the detection rate of abnormal karyotype was 4.22% (64/1516). Among them 21 cases of trisomy 10 cases, 18 cases of trisomy 1 case, 13 cases of trisomy 1 case 45 cases of XO 5 cases 47 cases of 5 cases of 47 cases of XYY 2 case 47 cases of 5 cases 69 cases XXX 1 Cases, 48, XXX + 18 1 cases, 33 cases of structural abnormalities, chimerism in 3 cases. Conclusions Amniotic fluid cell culture and karyotype analysis can make prenatal diagnosis of fetal chromosomal structure and number anomalies in the second trimester of pregnancy. It is the safe, effective and reliable method for prenatal diagnosis of fetal chromosomal diseases.