胎儿镜下头皮活检术对诊断胎儿白化病的应用价值 [中文引用][英文引用]

目的　探讨胎儿镜下头皮活检术在产前诊断白化病的应用价值，以期以更安全有效的手术方式提高胎儿镜检查白化病的准确率。方法　采用回顾性病例对照研究方法，以陆军军医大学第一附属医院2008～2016年期间住院行胎儿镜手术检查胎儿白化病的45例孕妇为研究对象，根据不同手术方式分为两组，组1（29例）：行胎儿镜检查术+胎儿头皮活检术；组2（16例）：仅行胎儿镜检查术。组1为在彩超引导下，应用直径1.0mm内窥镜插入羊膜腔，直接观察胎头毛发颜色，并于胎儿镜下钳取少量胎儿头皮毛发行活检电镜诊断；组2为在彩超引导下，应用1.0mm内窥镜插入羊膜腔，仅直接观察胎头毛发颜色。比较两组在胎儿白化病检查正确率、术后并发症情况差别。结果　组1：检出白头发1例，棕色头发1例，黄色头发3例，黑头发24例；联合胎儿头皮活检术，诊断白化病2例。分娩后证实胎儿白化病2例，余27例分娩后均无白化病表现，其中晚孕死胎引产1例，流产1例。组2：检出白头发6例，棕色头发1例，黑头发9例；根据术中录像，对照先证者头发颜色，反复观察胎儿头发及体毛颜色，诊断胎儿白化病6例。分娩后证实胎儿白化病6例，其余10例分娩后均无白化病表现，其中流产1例。两组对于检出胎儿白化病正确率及术后并发症无明显统计学差异（P>0.05） 结论 胎儿镜下胎儿头皮活检会增加胎儿损伤及感染风险；胎儿镜检查联合头皮活检术与单纯应用胎儿镜检查相比对于诊断胎儿白化病并不能明显提高诊断的正确率。

Objective To evaluate the value of using fetal scalp biopsy under fetoscope in the prenatal diagnosis of fetal albinism. Method With a retrospective case-control study, 45 hospitalized pregnant women with the fetus at high risk of albinism were selected from department of Obstetrics and Gynecology, the first Affiliated Hospital of Army Medical University during 2008～2016year, All cases were divided in two groups by different examination method: 29 cases underwent fetoscope surgery combined with fetal scalp biopsy（group 1）,Ultrasound-guided, the endosope enters the amniotic cavity, observe the color of fetal hair and the pincers were taken for a biopsy;16 cases underwent fetoscope surgery alone（group 2）, ultrasound-guided, the endosope enters the amniotic cavity, observe the color of fetal hair directly. Results One case of white hair, one case of brown hair, 3 cases of yellow hair, 24 cases of black hair were detected in group 1. Combined with fetal scalp biopsy, two cases of albinism were diagnosed; two cases of fetal albinism were confirmed after delivery. All the remaining 27 cases were normal after delivery, but one case of fetal death occurred in late pregnancy, one case had a miscarriage. In group 2, 6 cases of white hair, one case of brown hair, 9 cases of black hair were detected. According to the video during the surgery, contrasted the hair color of family albinism, 6 cases of albinism were diagnosed.6 cases of fetal albinism were confirmed after delivery, all the remaining 10 cases were normal after delivery, but one case had a miscarriage three days after surgery. Compared the accuracy and complications of two groups, two groups had no significant difference. Conclusions Fetal scalp biopsy can increase the risk of fetal injury and infection. Fetoscope surgery combined with fetal scalp biopsy was not significantly different from Fetoscope surgery in the Prenatal Diagnosis of Fetal Albinism.