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目的探讨超声软标记的孕妇进行羊水产前诊断胎儿染色体核型分析。方法对81例2004年1月~2014年1月期间因B超发现超声软标记来我科行羊水产前诊断的孕妇,于18~23周在B超定位后进行羊膜腔穿刺,抽取羊水20~30ml,羊水细胞培养G显带进行羊水染色体核型分析。结果 81例孕妇中颈项透明层增厚47例,异常核型8例,其中21-三体3例,45,X 3例,18-三体1例,21-三体嵌合体1例;心内强回声光点12例,异常核型1例,正常变异2例;脉络丛囊肿20例,核型均正常。结论超声软标记在产前诊断中具有重要意义。
Objective To investigate the fetal chromosomal karyotype analysis of prenatal amniotic fluid in pregnant women with ultrasound soft labeling. Methods From January 2004 to January 2014, 81 pregnant women diagnosed with prenatal amniotic fluid due to B ultrasound ultrasonography were enrolled in our hospital from January 2004 to January 2014. After amniocentesis 18 to 23 weeks after B ultrasound localization, amniotic fluid 20 ~ 30ml, amniotic fluid cell culture G banding amniotic fluid karyotype analysis. Results 81 cases of pregnant women in the neck transparent layer thickening in 47 cases, 8 cases of abnormal karyotype, including 21 trisomy in 3 cases, 45, X 3 cases, 18 cases of trisomy 1, 21 cases of trisomy 1 case; heart There were 12 cases of strong echo spots, 1 case of abnormal karyotype, 2 cases of normal variation, and 20 cases of choroid cyst. The karyotypes were normal. Conclusion Ultrasound soft labeling in prenatal diagnosis is of great significance.