先天性畸形产前超声诊断与临床价值评估

Antenatal diagnosis of congenital malformations by ultrasonography

目的探讨产前诊断先天性畸形的超声影像学特点及临床价值。方法总结我院1999年6月～2007年1月接诊的156例产前诊断先天性畸形的临床和超声检查资料并分析。结果典型超声征象：①食管闭锁：羊水过多和胃泡影消失；②十二指肠梗阻：“双泡征”，伴羊水过多；③小肠闭锁：腹部多个囊泡；④脐膨出与腹裂：腹腔脏器于中腹部膨出腹腔外，有包膜为脐膨出，无包膜为腹裂；⑤先天性膈疝：腹腔脏器疝入胸腔伴纵隔、心脏移位及腹围减小；⑥肾积水：肾盂扩张；⑦腹腔囊性肿物：根据囊肿部位、性质、与周围脏器关系等进行诊断；⑧血管瘤、淋巴管瘤：根据瘤体质地、部位和血供情况等进行诊断；⑨脑积水：不同程度和部位的脑室扩张。结论超声检查为先天性畸形产前诊断的主要手段。常见的十二指肠梗阻、脐膨出、腹裂、肾积水等畸形的产前诊断准确率高。了解产前超声检查征象、诊断价值及临床意义，有助于临床医生更好地把握畸形儿病情、向家长解释病情和制定正确的治疗方案。

Objective To evaluate the efficacy of antenatal ultrasonography in diagnosing congenital malformations. Methods We reviewed 156 babies with antenatal ultrasound-diagnosed congenital malformations managed in our institute from June 1999～January 2007. Results The following ultrasound features were found： ①Esophageal atresia： Polyhydramnios and disappearance of stomach. ②Duodenal atresia： Double bubble and polyhydramnios. ③Small bowel atresia： Multiple cysts in the abdomen. ④Ompbalocele and gastroschisis： Abdominal organs protruding out of the midline with and without a membrane. ⑤Congenital diagphragmatic hernia： Abdominai organs protruding into the thoracic cavity, heart displacement and decreased circumference of abdomen. ⑥ Hydronephrosis： Renal pelvic dilatation. ⑦Cyst of abdomen： The diagnosis depending on its location, character and the organs around. ⑧Hemangioma and lymphangioma： Diagnosis depending on its character and location. ⑨Hydrocephalus： The diagnosis depends on the degree and the location of the ventricle dilatation of the brain. Conclusions Antenatal ultrasonography is more accurate in diagnosing duodenal atresia, ompbalocele, gastroschisis, and hydronephrosis.