目的

分析双血管环胎儿肺动脉吊带（PAS）合并右锁骨下动脉迷走（ARSA）的产前超声特征，评估其诊断的准确性，并探讨漏诊的潜在原因。

方法

回顾性分析2021年1月至2024年5月在湖北省妇幼保健院确诊的3例PAS合并ARSA胎儿的临床资料和预后，总结产前超声及胎儿超声心动图声像图特征以及心内外合并畸形，并与病理解剖、染色体结果对照分析。

结果

（1）3例病例均预后不良，1例继续妊娠至分娩，生后于外院手术后夭折，2例终止妊娠。（2）3例PAS均为完全型，均伴有气道的狭窄或闭锁，其中2例气管及支气管狭窄，1例发生高位气道阻塞综合征（喉闭锁伴后鼻孔闭锁）。（3）3例产前超声首次阳性发现均为心外畸形（2例为消化系统畸形，1例为面部畸形）和羊水多，2例胎儿超声心动图明确诊断，1例孕期未行胎儿超声心动图检查，超声仅提示“双泡征”，出生后经CT诊断。（4）3例均合并其他心内外多发畸形：其中1例合并永存左位上腔静脉，2例合并消化系统多发畸形（2例合并十二指肠狭窄或闭锁及肛门闭锁；1例同时合并食道闭锁、食管气管瘘），1例合并面部多发畸形（小下颌、低位耳、双耳畸形）。（5）附属结构异常：3例均合并羊水过多，1例合并单脐动脉。（6）基因检测：1例全外显子测序检出22q11.1-q11.21区段约2.37 Mb的致病性拷贝数重复。

结论

双血管环PAS合并ARSA常以伴发的其他心内外畸形或羊水异常为产前超声首次阳性发现，胎儿超声心动图有助于明确诊断。

Objective

To analyze the prenatal ultrasound features of fetal pulmonary artery sling（PAS） concurrent with an aberrant right subclavian artery （ARSA）， to assess its diagnostic accuracy， and to explore the potential causes of missed diagnosis.

Methods

The clinical data and prognosis of three fetuses with PAS concurrent with an ARSA diagnosed in Maternal and Child Health Hospital of Hubei Province from January 2021 to May 2024 were retrospectively analyzed. The characteristics of prenatal ultrasound and fetal echocardiography were analyzed and compared to autopsy and chromosomal findings.

Results

All the three cases had a poor prognosis. Despite continuing the pregnancy until delivery， one case died shortly after the delivery in an outside hospital. Two cases terminated the pregnancy. All three cases of PAS were complete， all with stenosis or atresia of the airway， including two cases of tracheal and bronchial stenosis and one case of high-grade airway obstruction syndrome （laryngeal atresia with posterior nasal aperture atresia）.The first positive findings of prenatal ultrasound in all the three cases were extracardiac malformations （2 cases of digestive malformations and 1 case of facial malformations） and excessive amniotic fluid； two cases were clearly diagnosed by fetal echocardiography， and one case had the double bubble sign， did not undergo fetal echocardiography during pregnancy， and achieved diagnosis after birth by CT. All the 3 cases were combined with other intra- and extra-cardiac malformations： 1 case with persistent left superior vena cava；2 with multiple digestive malformations （2 cases of duodenal stenosis or atresia and anal atresia； 1 case of esophageal atresia and trachea-esophageal fistula）； and 1 with multiple facial malformations （small lower jaw，low-set ears， and binaural malformations）. All the 3 cases were combined with polyhydramnios， and 1 case was combined with single umbilical artery. In 1 case， diagnostic whole-exome sequencing showed that the patient had approximately 2.37 Mb of duplicates detected in the region 22q11.1-q11.21.

Conclusion

PAS concurrent with an ARSA is frequently associated with various intra- and extracardiac malformations， as well as abnormalities in amniotic fluid， which are often the first notable findings on prenatal ultrasound. Fetal echocardiography plays a crucial role in establishing a definitive diagnosis.