22q11 deletions in fetuses with malformations of the outflow tracts or interruption of the aortic arch: Impact of additional ultrasound signs

Paolo Volpe, Maurizio Marasini, Gilda Caruso, Andrea Marzullo, Antonia Lucia Buonadonna, Paolo Arciprete, Salvatore Di Paolo, Gennaro Volpe, Mattia Gentile

Research output: Contribution to journalArticle

Abstract

Objectives: One hundred and forty-one consecutive cases of malformations of the outflow tracts or interrupted aortic arch (IAA), detected by fetal echocardiography, underwent detailed anatomy scan, karyotyping and fluorescence in situ hybridization analysis (FISH) to detect the prevalence of 22q11 microdeletion and to evaluate neonatal clinical findings and outcome according to the presence of the genetic defect. Then, we sought to investigate whether some prenatal ultrasound findings could help identify fetuses at higher risk of carrying the 22q11 microdeletion. Methods: Echocardiography and FISH for the DiGeorge critical region (22q11) were performed in all cases. Results: 22qll microdeletion was detected in 28 of 141 fetuses (19.8%). Intrauterine growth restriction (IUGR) appeared to be associated with the worst prognosis, being present in 2/2 intrauterine fetal deaths and 5/6 post-natal deaths. IUGR, additional aortic arch anomalies and thymic hypo/aplasia were significantly more frequent in fetuses with 22q11 microdeletion (p = 0.011, 0.011 and

Original languageEnglish
Pages (from-to)752-757
Number of pages6
JournalPrenatal Diagnosis
Volume23
Issue number9
DOIs
Publication statusPublished - Sep 1 2003

Keywords

  • 22q11 microdeletion
  • Conotruncal anomalies
  • Malformations of the outflow tracts
  • Thymus hypo/aplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Obstetrics and Gynaecology

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