应用胎儿镜诊断胎儿白化病14例报告  

Antenatal Diagnosis of Albinism Fetuses by Fetalscopy

作　　者：吴玉珍[1] 孙念怙[1] 王凤云[1] 郝娜[1] 

机构地区：[1]中国医学科学院中国协和医科大学北京协和医院妇产科

出　　处：《中华妇产科杂志》1998年第8期482-483,共2页Chinese Journal of Obstetrics and Gynecology

摘　　要：目的讨论胎儿镜在产前诊断遗传性疾病中的应用价值。方法选择８５例高危孕妇，于孕１７～２６周，在Ｂ超引导下，应用内窥镜插入羊膜腔，直接观察胎头毛发。结果８５例高危孕妇，接受胎儿镜检查成功者７９例（９３％）。６３例诊断正常胎儿，１６例诊断为白化病患儿，其中２例假阳性，胎儿毳毛被误认为胎儿头发，故诊为白化病患儿，这２例胎龄为１７周。结论胎儿镜用于产前诊断白化病等遗传性疾病，具有快速，准确，安全等特点。Objective To popularize the clinical utility of fetalscopy in antenatal diagnosis of albinism fetuses. Methods Fetalscopy examination was carried out in 85 highrisk pregnancy women, during 17 to 26 gestational weeks. Guided by the ultrasonography, the fetalscopy was inserted into the aminotic sac. Albinism fetuses was diagnosed by the color of the fetal hair. Results Fetalscopy were succeed in 79 of 85 highrisk women (93%). 63 fetuses were diagnosed as normal, 16 fetuses was diagnosed of albinism. There were 2 falsepositive cases at 17 weeks of gestation due to mistaking wooly hair for hair. Conclusion Fetalscopy is a quick, accurate, safe method in antenatal diagnosis of heredity diseases, such as albinism.

关 键 词：胎儿镜 产前诊断 白化病 

分 类 号：R714.55[医药卫生—妇产科学] R758.41[医药卫生—临床医学]