Galindo A, Gutiérrez-Larraya F, Martínez J M, Del Rio M, Grañeras A, Velasco J M, Puerto B, Gratacos E
Ultrasound and Fetal Physiopathology Unit, Department of Obstetrics and Gynaecology, Hospital Universitario 12 de Octubre, Madrid, Spain.
Ultrasound Obstet Gynecol. 2006 Jul;28(1):32-9. doi: 10.1002/uog.2807.
To analyze fetal echocardiographic findings of absent pulmonary valve syndrome (APVS), its association with chromosomal and extracardiac anomalies including nuchal translucency (NT) and the outcome after diagnosis.
Data of 14 fetuses with confirmed APVS retrospectively collected in two tertiary referral centers between 1998 and 2004 were analyzed. The variables examined were: reason for referral, gestational age at diagnosis and associated abnormalities, including first trimester NT thickness. Cardiac evaluation included measurement of cardiothoracic ratio, diameter of pulmonary arteries and Doppler flow in the pulmonary trunk. Information was retrieved from clinical files, recorded videotapes and stored images. Karyotyping including examination for the 22q11 deletion was performed in all cases.
Mean gestational age at diagnosis was 28 weeks, with 5/14 (36%) diagnosed before 22 weeks. In 13/14 (93%) there was an associated ventricular septal defect (subaortic in 12 fetuses and inlet-type in one) and all 13 had tetralogy of Fallot. Enlargement of the central pulmonary arteries and cardiomegaly were present in all cases diagnosed after 22 weeks. Of the five fetuses in which APVS was detected before 22 weeks, four (80%) had a normal pulmonary trunk diameter, two (40%) had normal pulmonary branches and three (60%) had normal cardiac size. The arterial duct was absent in 11/14 (79%). A correlation between presence of the arterial duct and the size of the central pulmonary arteries or cardiomegaly could not be established. Increased NT was observed in 4/10 cases (40%) for which this information was available. 22q11 microdeletion was diagnosed in three fetuses (21%). There were five terminations of pregnancy, one intrauterine death, five neonatal deaths and one infant death. Of the six neonates with respiratory distress, only one (17%) survived and of the eight babies in whom there was an intention to treat, two survived (25%).
APVS can be accurately diagnosed by fetal echocardiography but screening ultrasound in the mid-second trimester is likely to have a low detection rate, probably due to the incomplete expression of the disease at this point. Many fetuses with APVS have an increased NT in the first trimester and this may help an earlier recognition of the defect. The most common associated karyotype anomaly is 22q11 microdeletion. Enlargement of the central pulmonary arteries is mainly related to the gestational age at diagnosis. Our results confirm that the outlook for these patients is extremely poor.
分析肺动脉瓣缺如综合征（APVS）的胎儿超声心动图表现、其与染色体及心外异常（包括颈部透明带厚度（NT））的关联以及诊断后的结局。
对1998年至2004年间在两家三级转诊中心回顾性收集的14例确诊为APVS的胎儿数据进行分析。所检查的变量包括：转诊原因、诊断时的孕周及相关异常，包括孕早期NT厚度。心脏评估包括心胸比率测量、肺动脉直径及肺动脉主干的多普勒血流测定。信息从临床病历、记录的录像带及存储的图像中获取。所有病例均进行了包括22q11缺失检测的核型分析。
诊断时的平均孕周为28周，14例中有5例（36%）在22周前确诊。14例中有13例（93%）合并室间隔缺损（12例为主动脉下型，1例为流入道型），且这13例均患有法洛四联症。所有在22周后确诊的病例均有中央肺动脉增宽及心脏增大。在22周前检测出APVS的5例胎儿中，4例（80%）肺动脉主干直径正常，2例（40%）肺分支正常，3例（60%）心脏大小正常。14例中有11例（79%）动脉导管缺如。无法确定动脉导管的存在与中央肺动脉大小或心脏增大之间的相关性。在有该信息的10例病例中，4例（40%）观察到NT增加。3例胎儿（21%）诊断出22q11微缺失。有5例终止妊娠，1例宫内死亡，5例新生儿死亡，1例婴儿死亡。在6例有呼吸窘迫的新生儿中，仅1例（17%）存活，在8例有意治疗的婴儿中，2例存活（25%）。
胎儿超声心动图可准确诊断APVS，但孕中期筛查超声的检出率可能较低，这可能是由于此时疾病表现不完全。许多患有APVS的胎儿在孕早期NT增加，这可能有助于更早识别该缺陷。最常见的相关核型异常是22q11微缺失。中央肺动脉增宽主要与诊断时的孕周有关。我们的结果证实这些患者的预后极差。
