Maternal-Fetal Medicine Department, Institut Clínic de Ginecologia, Obstetrícia I Neonatologia (ICGON), Hospital Clínic, University of Barcelona, Barcelona, Spain.
Ultrasound Obstet Gynecol. 2010 Nov;36(5):556-60. doi: 10.1002/uog.7614.
To describe a new ultrasonographic marker, the 'question-mark' sign, to assist in the diagnosis of tetralogy of Fallot (TOF) in the fetus, and to evaluate its prevalence in TOF as compared with other cardiac defects.
A prospective evaluation over a 5-year period of a consecutive series of 3998 pregnant women undergoing fetal echocardiography from 12 to 40 weeks' gestation due to high risk for congenital heart disease (CHD). Standard echocardiographic planes with color Doppler assessment and evaluation of the whole aortic arch, from the left ventricular outflow tract to the descending aorta in the axial upper mediastinum views, were performed. The question-mark sign corresponded with an enlarged and dilated ascending aorta and aortic arch in the three-vessel view of the upper fetal mediastinum. The frequency of this sign was evaluated in cases with TOF and in other cases of cardiac defects, as well as in fetuses with normal cardiac scans in this series.
CHD was diagnosed in a total of 447 (11.2%) fetuses at a median gestational age of 24 (range, 12-40) weeks. Forty-two of the 447 (9.4%) had TOF, of which 29 cases (69.0%) had classical TOF (pulmonary stenosis), nine (21.4%) pulmonary atresia and four (9.5%) absent pulmonary valve syndrome. A question-mark sign was observed in 16/29 (55.2%) cases of classical TOF and in 8/9 (88.9%) cases of TOF with pulmonary atresia. The sign was never observed in any of the cases of TOF with a right-sided aortic arch. Likewise, the sign was observed in 1/405 (0.2%) cases with other cardiac anomalies (a fetus with a complex cardiac defect) and in none of the fetuses with normal hearts.
The finding of an enlarged aorta with a question-mark shape should raise a strong suspicion of tetralogy of Fallot, in particular the variant with pulmonary atresia. This sign may be useful in screening considering that prenatal diagnosis of TOF by routine ultrasonography remains a challenge.
描述一种新的超声标记物“问号征”，以协助胎儿法洛四联症（TOF）的诊断，并评估其在 TOF 中的患病率与其他心脏缺陷的比较。
对 3998 例高危先天性心脏病（CHD）孕妇进行了前瞻性评估，这些孕妇在 12 至 40 孕周进行胎儿超声心动图检查。进行了标准的超声心动图平面检查，包括彩色多普勒评估和整个主动脉弓的评估，从左心室流出道到轴向上纵隔观中的降主动脉。问号征在胎儿上纵隔的三血管视图中与增大和扩张的升主动脉和主动脉弓相对应。评估了该标记在 TOF 病例中的出现频率，以及在该系列中具有正常心脏扫描的胎儿和其他心脏缺陷病例中的出现频率。
在总共 447 例（11.2%）胎儿中诊断出 CHD，中位孕龄为 24 周（范围为 12-40 周）。447 例中有 42 例（9.4%）患有 TOF，其中 29 例（69.0%）为经典 TOF（肺动脉狭窄），9 例（21.4%）为肺动脉闭锁，4 例（9.5%）为无肺动脉瓣综合征。16/29 例（55.2%）经典 TOF 病例和 8/9 例（88.9%） TOF 伴肺动脉闭锁病例中观察到问号征。在任何右位主动脉弓的 TOF 病例中均未观察到该征。同样，该征在 1/405 例（0.2%）其他心脏异常（患有复杂心脏缺陷的胎儿）病例中观察到，在任何具有正常心脏的胎儿中均未观察到该征。
发现主动脉呈问号状增大应强烈怀疑法洛四联症，特别是伴有肺动脉闭锁的变异型。考虑到通过常规超声检查对 TOF 的产前诊断仍然具有挑战性，该标记可能有助于筛查。
