Prenatal Diagnosis of Arhinia.

Loading...
Thumbnail Image

Date

2022-04

Journal Title

Journal ISSN

Volume Title

Repository Usage Stats

22
views
4
downloads

Citation Stats

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.

Department

Description

Provenance

Citation

Published Version (Please cite this version)

10.1055/s-0042-1748521

Publication Info

Zemtsov, Gregory E, Anthony E Swartz and Jeffrey A Kuller (2022). Prenatal Diagnosis of Arhinia. AJP reports, 12(2). pp. e127–e130. 10.1055/s-0042-1748521 Retrieved from https://hdl.handle.net/10161/25634.

This is constructed from limited available data and may be imprecise. To cite this article, please review & use the official citation provided by the journal.

Scholars@Duke

Kuller

Jeffrey Adam Kuller

Professor of Obstetrics and Gynecology

Perinatal consultation, fetal ultrasound, genetic counseling, preconception counseling, amniocentesis, chorionic villus sampling.


Unless otherwise indicated, scholarly articles published by Duke faculty members are made available here with a CC-BY-NC (Creative Commons Attribution Non-Commercial) license, as enabled by the Duke Open Access Policy. If you wish to use the materials in ways not already permitted under CC-BY-NC, please consult the copyright owner. Other materials are made available here through the author’s grant of a non-exclusive license to make their work openly accessible.