顺藤摸瓜：在早孕期唐氏综合征筛查中重复鼻骨评估。
Follow Your Nose: Repeat Nasal Bone Evaluation in First-Trimester Screening for Down Syndrome.
机构信息
Division of Maternal Fetal Medicine, Department of Gynecology and Obstetrics, Johns Hopkins Hospital, Baltimore, Maryland, USA.
Juno Diagnostics, San Diego, California, USA.
出版信息
J Ultrasound Med. 2023 Aug;42(8):1709-1716. doi: 10.1002/jum.16190. Epub 2023 Feb 6.
OBJECTIVE
Examine whether repeat nasal bone evaluation following an absent/uncertain nasal bone on first-trimester screening (FTS) improves Down syndrome (DS) screening specificity.
METHODS
A retrospective chart review of FTS sonograms in one center from January 2015 to January 2018 was performed. Data was extracted for those with an absent/uncertain nasal bone. Repeat evaluations were offered.
RESULTS
Of 6780 FTS sonograms, 589 (8.7%) had an absent/uncertain nasal bone. Upon repeat exam, 268/376 (71.3%) had a present nasal bone. Compared with Black patients, patients of other ethnicities were more likely to have a present nasal bone on exam 2 (P < .00001). Of 268 patients with a present nasal bone on exam 2, 37 (13.8%) had an abnormal DS risk following exam 1; 34/37 (91.9%) normalized following nasal bone visualization, dropping the screen positive rate to 1.1%.
CONCLUSION
Repeat nasal bone examination is beneficial in refining DS risk assessment and improves the specificity of FTS.
目的
探讨在早孕期筛查（FTS）中首次检查未见/可疑鼻骨后重复评估鼻骨是否能提高唐氏综合征（DS）筛查的特异性。
方法
对 2015 年 1 月至 2018 年 1 月在一家中心进行的 FTS 超声检查进行回顾性图表审查。提取了有未见/可疑鼻骨的患者的数据。提供了重复评估。
结果
在 6780 例 FTS 超声检查中，有 589 例（8.7%）有未见/可疑鼻骨。在重复检查中，有 268/376 例（71.3%）有现有的鼻骨。与黑人患者相比，其他族裔的患者在第二次检查中更有可能出现现有的鼻骨（P < .00001）。在第二次检查中有现有的鼻骨的 268 例患者中，有 37 例（13.8%）在第一次检查后有异常的 DS 风险；在鼻骨可视化后，有 34/37 例（91.9%）正常，使筛查阳性率降至 1.1%。
结论
重复的鼻骨检查有助于细化 DS 风险评估，并提高 FTS 的特异性。
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