Prenatal diagnosis of interruption of the aortic arch and its association with deletion of chromosome 22q11

P. Volpe, M. Marasini, G. Caruso, M. Gentile

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: Differentiation of interruption of the aortic arch (IAA) type A from type B by prenatal echocardiography is possible but difficult. We report nine consecutive cases of the prenatal detection of IAA and evaluate the feasibility of making a correct prenatal diagnosis with fetal echocardiography. The incidence of 22q11 microdeletion in our series, detected using fluorescent in situ hybridization (FISH) analysis, was determined. Methods: Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. The findings were confirmed by autopsy (three cases) or at postnatal surgery (six cases). Results: On fetal echocardiography we identified six type B cases and three type A. FISH detected microdeletions in 22q11 in five of nine fetuses (four type B cases and an unusual association with type A in one case). Conclusions: Our report confirms the feasibility of making a correct prenatal diagnosis of IAA and its different types, based on echocardiographic examination. Furthermore our data are consistent with previous reports indicating that type A and type B are distinct entities. In more than 50% of fetuses with IAA type B, 22q11 microdeletion and DiGeorge or velo-cardio-facial syndromes may be expected. IAA type A is not commonly associated with 22q11 hemizygosity.

Original languageEnglish
Pages (from-to)327-331
Number of pages5
JournalUltrasound in Obstetrics and Gynecology
Volume20
Issue number4
DOIs
Publication statusPublished - 2002

Keywords

  • 22q11 microdeletion
  • Interrupted aortic arch

ASJC Scopus subject areas

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

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