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Second‐Trimester Prenatal Diagnosis of Total Arhinia

Arhinia is defined as the congenital absence of the nose. It is an extremely rare condition, which is usually associated with other craniofacial abnormalities. An extensive literature search revealed that the prenatal diagnosis of this anomaly has only been reported on 1 previous occasion at 29 weeks' gestation, and the diagnosis at birth has been reported only 29 times in the pediatric literature. 1-29 To our knowledge, there has not been a previously reported case of congenital arhinia diagnosed during the second trimester. This report describes the 2- and 3-dimensional sonographic appearance of arhinia shown during second-trimester genetic sonography and reviews this exceedingly rare craniofacial defect. Early diagnosis of this defect allows the patient to consider all her options regarding pregnancy management. The detection of arhinia in the second trimester provides evidence that this rare disorder can be diagnosed through appropriate evaluation of craniofacial anatomy on a comprehensive second-trimester sonographic examination.