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Mosaic trisomy 8: Diagnostic approach with fetal MRI as a complement to ultrasonography
Author(s) -
Ümit Aksoy Özcan,
Sıla Ulus,
Yasemin Alanay,
Alp Di̇nçer,
Murat Yayla
Publication year - 2015
Publication title -
perinatal journal
Language(s) - English
Resource type - Journals
ISSN - 1305-3124
DOI - 10.2399/prn.15.0232009
Subject(s) - medicine , fetus , agenesis of the corpus callosum , corpus callosum , trisomy , ultrasound , magnetic resonance imaging , radiology , corpus callosum agenesis , agenesis , echogenicity , pathology , pregnancy , anatomy , genetics , biology
Objective: Trisomy 8 mosaicism (MT8) is characterized by intracranial, genitourinary and skeletal system anomalies, congenital cardiovascular disorders, deep palmar and plantar creases, and neoplastic and hematological disorders. In the literature, there are only a few antenatal ultrasound (US) and fetal magnetic resonance imaging (MRI) findings reported for MT8. Case: The fetus whose gestational age was 26 weeks and 4 days was referred for fetal MRI due to corpus callosum agenesis suspected in routine US screening. We are presenting the major and minor MRI findings of the fetus in this case report. Conclusion: Fetal MRI can be used in addition to the antenatal ultrasound to evaluate genetic syndromes such as trisomy 8 mosaicism and to identify additional anomalies which cannot be found in the ultrasound screening.

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