P30.05: Fetal MRI and 2D ultrasound imaging of unilateral choanal atresia in case of progressive unilateral ventriculomegaly, hypertelorism and nasal hypoplasia

Abstract

coloboma). It may be complete (when all ocular tissues are involved: optic nerve head, retina, choroid, iris, and lens) or incomplete. ONC represents an important cause of childhood visual impairment and blindness; moreover, it can be associated with several Mendelian and non-Mendelian syndromes (i.e. CHARGE, PHACE, etc.). Because of ultrasound limitation in depicting the posterior aspect of the fetal eye globe, ONC has not been reported so far during prenatal life. Patients and methods: Among about 250 fetal MR imaging cranial examinations performed during 2006 and 2007, we found three fetuses carrying ONC. The gestational age ranged between 20 and 32 weeks. Examinations were performed with a 1.5 T scanner, using 3–4-mm thick single-shot T2-wighted spin-echo sections. Results: In 2/3 cases ONC was associated with other cranial and extracranial malformations: CHARGE syndrome, and microcephaly respectively. In the other case only unilateral microphtalmos was associated. In two cases the ONC was bilateral. The ONC was depicted on coronal and sagittal sections as a cleft of the posterior aspect of the globe with small cystic bulging of the globe. Conclusions: Although the sensitivity of fetal MR imaging in detecting ONC remains to be determined, the prenatal diagnosis of ONC may have significant implications for counseling and it may prompt further investigations to rule out possible associated syndromic conditions.