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 |
|---|---|
| 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 |
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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
Cite this
Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation. / Tonni, Gabriele; Ventura, Alessandro; Pattacini, Pierpaolo; Bonasoni, MariaPaola; Ferrari, Bruno.
In: Fetal and Pediatric Pathology, Vol. 31, No. 6, 12.2012, p. 439-447.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Complex cardiac defect, bowing of lower limbs and multiple anomalies in trisomy 22. Ultrasound, post-mortem CT findings with necropsy confirmation
AU - Tonni, Gabriele
AU - Ventura, Alessandro
AU - Pattacini, Pierpaolo
AU - Bonasoni, MariaPaola
AU - Ferrari, Bruno
PY - 2012/12
Y1 - 2012/12
N2 - 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.
AB - 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.
KW - 2D-3D ultrasound
KW - Congenital anomalies
KW - CT scan
KW - MR imaging
KW - Necropsy
KW - Prenatal diagnosis
KW - Trisomy 22
UR - http://www.scopus.com/inward/record.url?scp=84867723501&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84867723501&partnerID=8YFLogxK
U2 - 10.3109/15513815.2012.659409
DO - 10.3109/15513815.2012.659409
M3 - Article
C2 - 22497685
AN - SCOPUS:84867723501
VL - 31
SP - 439
EP - 447
JO - Fetal and Pediatric Pathology
JF - Fetal and Pediatric Pathology
SN - 1551-3815
IS - 6
ER -