胎儿体蒂异常的诊疗分析

Analysis of diagnosis and treatment of body stalk anomaly

目的探讨胎儿体蒂异常(body stalk anomaly,BSA)的早期诊断,妊娠结局并提供产前咨询。方法回顾性分析2006年1月～2012年1月在我院就诊的7例胎儿体蒂异常患者的临床资料及妊娠结局。结果 7例胎儿体蒂异常孕妇均为单胎妊娠,首次发现畸形孕周平均为20周(13～34周)。超声检查均提示脐带短或无脐带,同时合并前腹壁严重缺损,腹部脏器脱出;脊柱异常弯曲,侧突成角。其中3例合并胸壁缺损,心脏外翻;3例合并肢体异常;2例胎儿颈部透明带增厚;1例合并枕部皮下囊肿。所有孕妇均行引产术,引产过程顺利。引产后胎儿形态同超声所见。2例行尸体解剖检查,证实多发畸形;2例行染色体检查均提示染色体核型未见异常;3例引产后再次妊娠,妊娠结局良好。结论胎儿体蒂异常为罕见的致死性胎儿畸形,孕早期即可通过超声筛查发现,应及时终止妊娠,无复发风险。如超声诊断明确,无需行常规染色体检查。

Objective To analysis the early diagnosis and obstetric outcome of body stalk anomaly （BSA） and provide prena- tal counseling. Methods Retrospective review of 7 cases of body stalk anomaly diagnosed in our hospital from January 2006 to January 2012 were analyzed. Results Among the 7 cases, mean gestational age at diagnosis was 20 weeks （range 13-34 weeks）. The ultrasound appearance of 7 fetuses with body stalk anomaly were short umbilical cord or absence, major abdominal wall defet, severe kyphoscoliosis. 3 cases were complicated with thoracal wall defect, 2 cases with limb abnor- malities , nuchal translucency of 2 fetuses was thickening. 1 case had hypodermic cyst of occiput. All cases chosed termi- nation. 2 cases had autopsy and proved multiple deformity, 2 cases had chest of chromosome karyotype and had normal karyotypes, 3 cases pregnanted again and had a healthy baby. Conclusion Body stalk anomaly is a rare and lethal abnor- mality, we can detected it by ultrasound by the end of the first trimester, and choice termination of pregnancy. The ultra- sound diagnosis of BSA is unequivocal, chromosomal analysis is usually not indicated.