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目的染色体病是出生缺陷的重要原因之一,通过对具有产前诊断指征得中期妊娠孕妇自愿进行羊水细胞遗传学分析,检查异常染色体胎儿,减少出生缺陷。方法 2148例具有产前诊断指征的孕妇,在B超定位下进行羊膜腔穿刺术,抽取羊水细胞进行培养及染色体核型分析。结果在2148例羊水细胞染色体核型分析中,发现异常核型85例,终止妊娠21例。结论孕中期对有产前诊断指的孕妇进行羊水细胞核型分析,可有效地控制和减少异常胎儿的出生,提高人口出生素质。
Objective Chromosomal disease is one of the important causes of birth defects. By means of amniotic fluid cytogenetic analysis on pregnant women with mid-term pregnancy indications with prenatal diagnosis, we can detect abnormal chromosome fetuses and reduce birth defects. Methods A total of 2148 pregnant women with prenatal diagnosis were enrolled in this study. Amniocentesis was performed under ultrasound B, and amniotic fluid cells were collected for culture and karyotype analysis. Results 2148 cases of amniotic fluid cell chromosome karyotype analysis found that 85 cases of abnormal karyotype, termination of pregnancy in 21 cases. Conclusions The second trimester of pregnant women with prenatal diagnosis of amniotic fluid cell karyotype analysis can effectively control and reduce the birth of abnormal fetuses and improve the quality of birth of the population.