胎儿法洛四联症的产前超声诊断与鉴别诊断

Prenatal ultrasound diagnosis and differential diagnosis of fetal tetralogy of Fallot

目的探讨产前超声在胎儿法洛四联症(TOF)诊断与鉴别诊断中的应用价值。方法回顾性分析经引产后尸检或出生后超声心动图检查证实的25例TOF胎儿的临床资料,总结TOF声像图特征及伴发心内外畸形。结果 25例胎儿TOF中,21例经典型TOF,超声全部检出;3例TOF合并肺动脉瓣闭锁(TOF/PA),超声检出1例,1例误诊为右室双出口,1例诊断为经典型TOF,漏诊肺动脉瓣闭锁;1例TOF合并肺动脉瓣缺如(TOF/PV-AB),诊断为经典型TOF,漏诊肺动脉瓣缺如。25例胎儿TOF中,10例合并其他心脏畸形,10例合并心外畸形,4例染色体异常。结论胎儿TOF具有特征性超声表现且常合并心内外畸形及染色体异常;产前超声是诊断胎儿TOF的首选影像学方法,具有重要临床诊断价值。

Objective To study the application value of prenatal ultrasound diagnosis and differential diagnosis of Fetal Te-tralogy of Fallot（TOF）. Methods We make a retrospective analysis of twenty-five fetuses with TOF that were confirmed by autopsy of induced labor or postpartum echocardiography,to summarize the ultrasonic features of TOF and complication with endocardial and extracardial malformations. Results Twenty-one cases of fetal TOF were simple TOF without other malformations that were all identified by ultrasound scans;three cases were TOF with pulmonary atresia：of which one was identified,one was misdiagnosed of double outlet of right ventricle （DORV）,and one was misdiagnosed of simple TOF;one case was TOF with absence of pulmonary valve that was misdiagnosed of simple TOF. Within the twenty-five cases,ten were complicated with other endocardial malforma-tions,ten were complicated with extracardial malformations,and four were complicated with chromosome abnormalities. Conclu-sion Fetal TOF has characteristic ultrasound features. It is always complicated with endocardial malformations ,extracardial malfor-mations and chromosome abnormalities. The prenatal ultrasound plays an important role in the clinical diagnosis of TOF ,which may be used for the first choice in examining TOF in fetuses.