Fetal interrupted aortic arch: 2D-4D echocardiography, associations and outcome

P. Volpe, G. Tuo, V. De Robertis, G. Campobasso, M. Marasini, A. Tempesta, M. Gentile, G. Rembouskos

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives To analyze fetal two-dimensional (2D) echocardiography 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. Methods 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. Results Twenty-two cases of isolated IAA (15 Type B and seven Type A, seven and three ofwhich, 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). Conclusion 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.

Original languageEnglish
Pages (from-to)302-309
Number of pages8
JournalUltrasound in Obstetrics and Gynecology
Volume35
Issue number3
DOIs
Publication statusPublished - Mar 2010

Keywords

  • 22q11.2 microdeletion
  • B-flow
  • Congenital heart disease
  • CORSA
  • Fetal echocardiography
  • Interrupted aortic arch
  • Prenatal diagnosis
  • STIC
  • Three/four-dimensional ultrasound

ASJC Scopus subject areas

  • Obstetrics and Gynaecology
  • Radiology Nuclear Medicine and imaging
  • Radiological and Ultrasound Technology
  • Reproductive Medicine

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