Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation

Gabriele Tonni, Alessandro Ventura, Pierpaolo Pattacini, MariaPaola Bonasoni, Bruno Ferrari

Research output: Contribution to journalArticlepeer-review

Abstract

Trisomy 22 is commonly associated with severe intrauterine growth retardation and congenital anomalies. The sonographic identification of a complex cardiac defect and bowing of the long bones associated with multiple structural anomalies add new clinical informations to our knowledge about the prenatal phenotype of trisomy 22. These findings have not been reported previously and are of critical importance as sonographic signs of trisomy 22 may overlap that of trisomy 1318 and will help clinicians in indicating fetal karyotyping. Prenatal diagnosis of trisomy 22 is essential as trisomy 22 is a lethal condition.

Original languageEnglish
Pages (from-to)439-447
Number of pages9
JournalFetal and Pediatric Pathology
Volume31
Issue number6
DOIs
Publication statusPublished - Dec 2012

Keywords

  • 2D-3D ultrasound
  • Congenital anomalies
  • CT scan
  • MR imaging
  • Necropsy
  • Prenatal diagnosis
  • Trisomy 22

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Pediatrics, Perinatology, and Child Health

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