Fetal Medicine Unit, Di Venere and Sarcone Hospitals, ASL Bari, Italy.
Ultrasound Obstet Gynecol. 2010 Mar;35(3):302-9. doi: 10.1002/uog.7530.
To analyze fetal two-dimensional (2D) echocardiographic characteristics of interrupted aortic arch (IAA) and its different types, to explore whether the use of 4D ultrasound with B-flow imaging and spatiotemporal image correlation (STIC) can improve prenatal diagnostic accuracy, and to describe associations and outcome.
The study comprised IAA fetuses examined exclusively by 2D conventional echocardiography during the period from 1994 to 2003, and those identified by conventional echocardiography and examined further by 4D ultrasound with B-flow imaging and STIC during the period January 2004 to July 2008, identified among fetuses examined at two referral centers for congenital heart defects (CHD). Postnatal follow-up was available in all cases. Karyotyping and fluorescent in-situ hybridization (FISH) analysis for the DiGeorge critical region (22q11.2) were performed in all cases.
Twenty-two cases of isolated IAA (15 Type B and seven Type A, seven and three of which, respectively, underwent B-flow imaging and STIC) were detected among 2520 cases of fetal CHD. In seven of the 15 Type B cases, a right subclavian artery arose anomalously (ARSA). 2D echocardiography failed to distinguish the type of IAA in only two cases and the ARSA in five of the seven cases. B-flow imaging and STIC successfully identified IAA types in all 10 cases examined and clearly visualized the origin and course of the ARSA, including cervical ones. FISH detected 22q11.2 microdeletion in 10 of the 15 Type B cases and an unusual association with Type A in one of the seven cases. Fetal/neonatal outcome included: eight terminations of pregnancy, one intrauterine death and four postoperative deaths in the neonatal period, and nine neonates were alive after surgery at a mean follow-up time of 58 months (range, 4 months-13 years).
Our results confirm the feasibility of prenatal characterization of IAA and its different types based on 2D echocardiographic examination, albeit with some limitations in the thorough assessment. 4D ultrasound with B-flow imaging and STIC can apparently facilitate visualization and detailed examination of the anatomical features of the IAA types, including visualization of the neck vessels, thus supplying additional information with respect to 2D sonography. As for the known association with microdeletion 22q11.2, our data indicate that Types A and B are distinct, there being a close association only with IAA Type B.
分析主动脉缩窄（IAA）的胎儿二维（2D）超声心动图特征及其不同类型，探讨四维超声联合 B -flow 成像和时空相关成像（STIC）是否能提高产前诊断的准确性，并描述相关情况和结局。
本研究纳入了 1994 年至 2003 年间仅通过二维常规超声心动图检查的 IAA 胎儿，以及 2004 年 1 月至 2008 年 7 月期间通过二维常规超声心动图和四维超声联合 B-flow 成像和 STIC 进一步检查的胎儿，这些胎儿均在两个先天性心脏病（CHD）转诊中心进行检查。所有病例均进行了核型分析和荧光原位杂交（FISH）分析 22q11.2 号染色体缺失。
在 2520 例胎儿 CHD 中，共发现 22 例孤立性 IAA（15 例 B 型和 7 例 A 型，其中分别有 7 例和 3 例行 B-flow 成像和 STIC）。在 15 例 B 型中，有 7 例右锁骨下动脉异常起源（ARSA）。二维超声心动图仅在 2 例中无法区分 IAA 类型，在 7 例 ARSA 中无法区分 5 例。B-flow 成像和 STIC 成功识别了 10 例检查的 IAA 类型，并清晰显示了 ARSA 的起源和走行，包括颈部。FISH 在 15 例 B 型中的 10 例中检测到 22q11.2 号染色体微缺失，在 7 例中的 1 例中发现了与 A 型的不寻常关联。胎儿/新生儿结局包括：8 例终止妊娠，1 例宫内死亡，4 例新生儿期手术后死亡，9 例新生儿在平均随访时间 58 个月（4 个月至 13 年）后存活。
我们的结果证实了基于二维超声心动图检查对 IAA 及其不同类型进行产前特征描述的可行性，尽管在全面评估方面存在一些局限性。四维超声联合 B-flow 成像和 STIC 可以明显促进 IAA 类型的解剖特征的可视化和详细检查，包括颈部血管的可视化，从而为二维超声提供更多信息。关于与 22q11.2 号染色体微缺失的已知关联，我们的数据表明 A 型和 B 型是不同的，仅与 IAA B 型密切相关。
