Moon Min Hoan, Cho Jeong Yeon, Lee Yu Mi, Jung Sung Il, Yang Jae Hyug, Kim Moon Young, Ryu Hyun-Mee, Chung Jin Hoon, Park Seong Ho
Department of Radiology, Cheil General Hospital & Women's Healthcare Center, Kwandong University College of Medicine, Seoul, Korea.
Prenat Diagn. 2007 Sep;27(9):830-4. doi: 10.1002/pd.1785.
The aim of this study was to evaluate the role of nasal bone assessment in first-trimester screening for Down syndrome (DS) in the Korean population.
From July 2004 to March 2006, we prospectively evaluated the fetal nasal bones at 11-14 weeks' gestation in the Korean population.
A successful evaluation was possible in 6490 of 6787 fetuses (95.6%). Absent, hypoechoic, and short nasal bones were seen in 4 (26.7%), 4 (26.7%), and 1 (6.7%) of 15 fetuses with DS, respectively, whereas in 5 (0.1%), 11 (0.2%), and 246 (3.8%) of 6456 normal fetuses. The incidence of absent and hypoechoic nasal bone showed significant differences between normal fetuses and fetuses with DS (P < 0.0005, both). Screening for DS using an absent or hypoechoic nasal bone resulted in a sensitivity of 53.3%, a specificity of 99.8%, a positive likelihood ratio of 215.2, and a negative likelihood ratio of 0.5.
Our study showed that nasal bone abnormality at 11-14 weeks of gestation had a high association with DS in the Korean population. This suggests that nasal bone assessment can be used to supplement the current first-trimester screening for DS in the Korean population.
本研究旨在评估鼻骨评估在韩国人群孕早期唐氏综合征（DS）筛查中的作用。
2004年7月至2006年3月，我们对韩国人群中孕11 - 14周的胎儿鼻骨进行了前瞻性评估。
6787例胎儿中有6490例（95.6%）成功进行了评估。15例DS胎儿中，分别有4例（26.7%）、4例（26.7%）和1例（6.7%）出现鼻骨缺失、低回声和短小鼻骨，而在6456例正常胎儿中，分别有5例（0.1%）、11例（0.2%）和246例（3.8%）出现上述情况。正常胎儿与DS胎儿鼻骨缺失和低回声的发生率存在显著差异（均P < 0.0005）。使用鼻骨缺失或低回声进行DS筛查，敏感性为53.3%，特异性为99.8%，阳性似然比为215.2，阴性似然比为0.5。
我们的研究表明，孕11 - 14周时鼻骨异常与韩国人群中的DS高度相关。这表明鼻骨评估可用于补充韩国人群目前的孕早期DS筛查。
