单脐动脉综合征产前诊断及预后

目的通过孕中期常规检查,尽早发现胎儿单脐动脉,对B超诊断单脐动脉综合征胎儿进一步行产前诊断,观察畸形情况,预测其预后。方法超声提示单脐动脉胎儿行磁共振(MRI)、染色体检查,引产胎儿进行尸体解剖,活胎远期随访。结果本院2006年6月至2007年11月产前超声检查7938例,发现单脐动脉的胎儿72例,发生率0.9%;单脐动脉综合征合并其他畸形的发生率达66.7%;其中合并1种畸形占22.5%,合并2种畸形占30%,≥3种畸形占47.5%。种类包括染色体异常,心脏、颅脑、肾脏、输尿管、膈肌、腹壁、四肢、肛门、脊柱畸形以及表型的其他异常。经超声提示单脐动脉后行MRI共有31例,23例与超声结果相符,8例与超声结果有差异。脐血染色体检查诊断出胎儿染色体异常4例。结论超声检查易及早诊断单脐动脉综合征,该综合征具有胎儿高风险的畸形率,需MRI进一步产前诊断。对产前诊断提示单脐动脉综合征合并1种及其以上畸形者建议胎儿染色体检查,经超声、MRI未发现其他异常合并者可出生后婴儿行染色体检查。但通过超声、MRI、脐血染色体检查诊断未发现胎儿合并有其他异常者胎儿其出生后仍有异常可能。

Prenatal diagnosis and prognosis of single umbilical artery

Objective To observe fetal anomaly and prognosis by doing further prenatal diagnosis to fetus with single umbilical artery (SUA )found by B model ultrasound.Methods Nuclear magnetic resonance imaging(MRI)and chromosome examination were used upon fetus with SUA suggested by ultrasound. Autopsy was applied to dead fetus.Long term follow-up was done upon live fetus until 18 months after parturition.Results 7 938 pregnant women received antepartum ultrasonic inspection in our hospital from June 2006 to November 2007. 72 fetus with SUA were detected.The incidence rate of SUA complicating fetal anomaly was 66.7% in the present paper,in which the incidence rate of complicating 1,2 and over 3 abnormities was 22.5%,30% and 47.5% respectively. These abnormities included chromosome disorder and many parts of body abnormities,such as abnormities of heart,brain,kidney,renal duct,diaphragmatic muscle,abdominal wall,limbs,anal orifice,spine and body surface,etc. Antepartum ultrasonic inspection suggested 31 cases of fetus with SUA,but only 23 cases of diagnosis were consistent with the result of MRI.4 cases of chromosome disorder were diagnosed by chromosome examination of cord blood.Conclusion Ultrasound can easily detect SUA. The incidence rate of SUA complicating fetal anomaly is rather high,so further diagnosing SUA by MRI is necessary.Fetus with SUA complicating abnormities should receive chromosome examination.Even examination of ultrasound,MRI and chromosome of cord blood is normal,fetal anomaly may still occur.