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CC BY-NC-ND 4.0 · AJP Rep 2022; 12(02): e127-e130
DOI: 10.1055/s-0042-1748521
Case Report

Prenatal Diagnosis of Arhinia

Gregory E. Zemtsov
1   Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina
,
Anthony E. Swartz
1   Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina
,
Jeffrey A. Kuller
1   Department of Obstetrics and Gynecology, Duke University Medical Center, Durham, North Carolina
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Abstract

Arhinia is a rare congenital anomaly that is not typically associated with known genetic mutations and is usually discovered after an affected infant is born. Prenatal diagnosis is important because neonates with arhinia often require specialized respiratory support with creation of an artificial airway. We present a case of isolated arhinia diagnosed on second-trimester ultrasound. A patient presented for routine ultrasound at 18 weeks gestation, and nasal tissues were absent in an otherwise morphologically normal appearing fetus. Cell free fetal DNA was unremarkable. The patient elected to undergo termination of pregnancy by dilation and evacuation. Subsequent genetic analysis confirmed a normal fetal karyotype and microarray, and no examination of fetal structural anatomy was possible. Antenatal diagnosis of arhinia is important to guide maternal–fetal care decisions and requires methodical sonographic evaluation to identify this malformation prior to delivery.

Keywords

arhinia - Bosma arhinia microphthalmia syndrome - prenatal ultrasound - 3D ultrasound - prenatal genetic testing


Publikationsverlauf

Eingereicht: 07. Dezember 2020

Angenommen: 06. Januar 2022

Artikel online veröffentlicht:
06. August 2022

© 2022. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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