PDF(Pubmed)
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.
摘要：
Arhinia是一种罕见的先天性异常，通常与已知的基因突变无关，通常在受影响的婴儿出生后发现。产前诊断很重要，因为患有arhinia的新生儿通常需要专门的呼吸支持并建立人工气道。我们介绍了一例在孕中期超声检查中诊断出的孤立的紫荆。一名患者在妊娠18周时接受常规超声检查，在其他形态上正常的胎儿中没有鼻组织。无细胞胎儿DNA无异常。患者选择通过扩张和撤离来终止妊娠。随后的遗传分析证实了正常的胎儿核型和微阵列，无法进行胎儿结构解剖检查。arhinia的产前诊断对于指导母胎护理决策非常重要，并且需要进行系统的超声检查以在分娩前识别这种畸形。
