Congenital heart disease
Fetal Diagnosis of Interrupted Aortic Arch

https://doi.org/10.1016/j.amjcard.2009.10.053Get rights and content

To determine the frequency of prenatal detection among liveborn patients with an interrupted aortic arch (IAA), the accuracy of prenatal diagnosis, and the anatomic features associated with IAA in the fetus. The prenatal diagnosis of an IAA is challenging. The data on the features and outcomes of fetal IAA are limited. This was a retrospective review of the fetuses and neonates diagnosed with IAA at the Children's Hospital Boston. From 1988 to 2009, 26 fetuses were diagnosed with an IAA. Of these, 21 were live born, and 5 pregnancies were terminated. Of these 21 patients, 18 were confirmed to have an IAA after birth and 3 had severe aortic coarctation. Of the 56 patients diagnosed with an IAA as neonates, 3 had a prenatal echocardiogram that did not include the correct diagnosis. Among the liveborn patients with a postnatally confirmed IAA, 24% were diagnosed prenatally, which increased from 11% during the first 7-year period to 43% more recently. Also, 15% of the prenatally diagnosed patients with IAA had a family history of structural or genetic anomalies. In fetuses with an IAA, echocardiographic Z-scores for the aortic valve and ascending aorta were significantly lower than in normal fetuses, but the left ventricular dimensions were normal. Aortopulmonary diameter ratios were abnormally low. In conclusion, although the identification of IAA on a prenatal echocardiogram can be challenging, a number of anatomic features can facilitate the diagnosis. In particular, a low aortopulmonary diameter ratio in the absence of a ventricular size discrepancy should prompt consideration of this diagnosis. Despite the diagnostic challenges, the frequency of prenatal diagnosis of the IAA is increasing.

Section snippets

Methods

Fetuses and neonates diagnosed with an IAA were ascertained by searching the database of the cardiovascular program at the Children's Hospital Boston (Boston, Massachusetts), using the diagnostic codes for all types of IAA. Patients suspected to have an IAA prenatally who were found to have another diagnosis after birth were also included. The postnatal cohort only included patients who presented to our institution at <1 month of age. Patients with additional major cardiac anomalies who also

Results

From June 1988 through April 2009, 26 fetuses and 56 additional neonates ≤30 days old were diagnosed with an IAA at Children's Hospital Boston. Of the 26 fetuses with a prenatal diagnosis of IAA, 21 were liveborn and 5 families elected to terminate the pregnancy without fetopsy. The median gestational age at diagnosis was 25.7 weeks (range 17.0 to 37.3) overall and 19.8 weeks (range 18.8 to 20.1) for the terminated pregnancies (p <0.001 for comparison of terminated pregnancies with those

Discussion

As with other conotruncal anomalies, the prenatal diagnosis of IAA is relatively uncommon. During the past 21 years at our center, 24% of patients born with an IAA were diagnosed in utero.8, 11, 12 However, during the course of the study, the frequency of the prenatal diagnosis increased from 11% in the first 7-year period to 43% in most recent 7-year period. Despite a high association of chromosomal anomalies and that the outcomes of IAA remain suboptimal,13 the rate of termination was <25%

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This study was supported by contributions from the Kenrose Kitchen Table Foundation, Gig Harbor, Washington.

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