Prenatal detection of microtia by MRI in a fetus with trisomy 22.

Abstract

Trisomy 22 is a rare chromosomal abnormality infrequently detected prenatally. External ear abnormalities, in particular microtia, are often associated with trisomy 22, but prenatal detection of microtia has not been reported in association with trisomy 22. We report a fetus with trisomy 22, with fetal MRI findings of microtia, craniofacial dysmorphism, and polygyria. Fetal MRI is a useful tool for auricular assessment and might have utility in the prenatal detection of chromosomal abnormalities, especially among fetuses with structural anomalies.

• Authors: Andrea Milic, Susan Blaser, Ashley Robinson, Sandra Viero, William Halliday, Elizabeth Winsor, Ants Toi, Micki Thomas, David Chitayat
• Journal: Pediatric radiology (Pediatr Radiol) Vol. 36 Issue 7 Pg. 706-10 (Jul 2006) ISSN: 0301-0449 [Print] Germany
• PMID: 16770674 (Publication Type: Case Reports, Journal Article)

Topics

• Autopsy
• Chromosomes, Human, Pair 22
• Ear, External (abnormalities)
• Female
• Humans
• Magnetic Resonance Imaging (methods)
• Pregnancy
• Prenatal Diagnosis
• Trisomy (diagnosis)