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 language | English |
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Pages (from-to) | 439-447 |
Number of pages | 9 |
Journal | Fetal and Pediatric Pathology |
Volume | 31 |
Issue number | 6 |
DOIs | |
Publication status | Published - 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