Hartge David, Hoffmann Ulrike, Schröer Andreas, Weichert Jan
Division of Prenatal Medicine, Department of Gynecology and Obstetrics, University Hospital of Schleswig-Holstein, Campus Luebeck, Luebeck, Germany.
Pediatr Cardiol. 2010 Oct;31(7):1100-3. doi: 10.1007/s00246-010-9748-z. Epub 2010 Jun 16.
Tetralogy of Fallot (TOF) with concomitant absent pulmonary valve syndrome (APVS) constitutes a rare prenatal condition characterized by rudimentary cusps of the pulmonary valve, pulmonary regurgitation, and a variable degree of dilatation of the main and branch pulmonary arteries. Although early prenatal diagnosis of this complex malformation is feasible, the antenatal course of affected fetuses clearly depends on the presence of associated structural (absence of the ductus venosus) and chromosomal anomalies (microdeletion 22q11, DiGeorge syndrome). Postnatally, the outcome is closely related to the degree of airway obstruction and subsequent bronchomalacia. We describe the beneficial contribution of three- and four-dimensional ultrasound in establishing the diagnosis of TOF-APVS in a fetus at age 22 gestational weeks.
法洛四联症（TOF）合并肺动脉瓣缺如综合征（APVS）是一种罕见的产前疾病，其特征为肺动脉瓣叶发育不全、肺动脉反流以及主肺动脉和分支肺动脉不同程度的扩张。尽管对这种复杂畸形进行早期产前诊断是可行的，但受影响胎儿的产前病程显然取决于是否存在相关结构异常（静脉导管缺如）和染色体异常（22q11微缺失、迪格奥尔格综合征）。出生后，预后与气道阻塞程度及随后的支气管软化密切相关。我们描述了三维和四维超声在诊断一名孕22周胎儿的TOF-APVS中的有益作用。
