摘要
目的探讨羊水细胞染色体分析在产前诊断中的应用价值。方法无菌条件下,取羊水细胞培养,常规收获,G显带,镜下核型分析。结果符合产前诊断指征320例妊娠中期羊水细胞培养成功315例,成功率为98.4%,共检出异常核型13例,检出率为4.06%,其中三体综合征4例,占30.7%;性染色体异常2例,占15%,平衡易位4例,占30.7%;性染色体三体1例,部分三体1例,部分单体1例;染色体多态性18例,占5.6%。结论对具有产前诊断指征的孕妇行羊膜腔穿刺术,进行羊水细胞培养及染色体分析十分必要,羊水细胞染色体检查是目前安全、有效、可靠诊断胎儿染色体的方法。
Objective： To explore the use of amniocentesis in prenatal analysis, and reduce the newborn with abnormal chromosome. Methods ： Amniocentesis was employed to detect amniotic cells collected from 320 pregnant women with high risk prenatal diagnosis indications. Results： Among the 320 pregnant women, 315 cases amniotic fluid cells culture are successful, yield rate was 98.4%, thirteen fetus with chromosome abnormality were diagnosed by Karyotype analysis, of which, 4 cases were trisomies （30. 7% ）, two cases were sex chromosomal abnormalities （ 15% ）, 4 cases were balanced translocations （ 30. 7% ）, 18 cases were chromosome polymorphism （5. 6% ）. Conclusion： It＇s necessary to examine the chromosome in fundamental hospital and importance for the diagnosis and treatment. Amniotic fluid culture for prenatal diagnosis is very safe and reliable.
出处
《中国优生与遗传杂志》
2009年第10期43-44,共2页
Chinese Journal of Birth Health & Heredity
关键词
产前诊断
核型分析
羊水细胞
染色体异常
Prenatal diagnosis
Karyotype analysis
Amniotic fluid cells
Chromosome abnormalities
