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21三体综合征产前筛查中的鼻骨评估

Nasal bone assessment in prenatal screening for trisomy 21.

作者信息

Sonek J D, Cicero S, Neiger R, Nicolaides K H

机构信息

Department of Obstetrics and Gynecology, Ohio State University, Dayton, OH, USA.

出版信息

Am J Obstet Gynecol. 2006 Nov;195(5):1219-30. doi: 10.1016/j.ajog.2005.11.042. Epub 2006 Apr 17.

Abstract

A small nose is a common facial feature of individuals with trisomy 21. Evidence based on radiologic, histomorphologic, and sonographic studies shows that nasal bone abnormalities are significantly more common in trisomy 21 fetuses than in euploid fetuses. These abnormalities, which include both nasal bone absence and short nasal bone length, can be detected by prenatal ultrasound. In this article we review the evidence and discuss the potential value of assessment of the fetal nasal bone in screening for trisomy 21.

摘要

小鼻子是21三体综合征患者常见的面部特征。基于放射学、组织形态学和超声检查的证据表明,21三体胎儿鼻骨异常的发生率显著高于正常胎儿。这些异常包括鼻骨缺失和鼻骨长度缩短,可通过产前超声检测到。在本文中,我们回顾了相关证据,并讨论了评估胎儿鼻骨在21三体综合征筛查中的潜在价值。

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