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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,有较高的临床诊断价值
Objective To discuss the value of fetal mirror in prenatal diagnosis of genetic diseases. Methods Eighty-five pregnant women at high risk were selected. At 17 to 26 weeks’ gestation, under the guidance of B-ultrasound, the endoscope was inserted into the amniotic cavity to directly observe the fetal head hair. Results 85 cases of high-risk pregnant women, 79 cases (93%) were successful in fetoscopy. 63 cases of normal fetuses were diagnosed, and 16 cases were diagnosed as albinism. Two of them were false-positive. Fetal beard was misidentified as fetal hair. Therefore, the patients were diagnosed as albinism with gestational age of 17 weeks. Conclusion Fetal mirror is used to diagnose albinism and other hereditary diseases prenatal, with the characteristics of fast, accurate and safe, and has high clinical diagnostic value