Viora E, Masturzo B, Errante G, Sciarrone A, Bastonero S, Campogrande M
Ultrasound and Prenatal Diagnosis Unit, Sant'Anna Hospital, Turin, Italy.
Prenat Diagn. 2003 Oct;23(10):784-7. doi: 10.1002/pd.694.
The aim of this study is to evaluate the significance of nasal bone ossification as a marker for trisomy 21 at 11 to 14 weeks' gestation in an unselected obstetric population referred to our Centre.
A total of 1906 consecutive fetuses undergoing nuchal translucency scan at 11 to 14 weeks' gestation were evaluated for the presence of hypoplasia/absence of nasal bone. The data obtained were correlated with fetal karyotype.
A successful view of the fetal profile was obtained in 1752 fetuses (91.9%). The nasal bone was hypoplastic/absent in 12 of 19 fetuses with chromosomal abnormalities. There were 10 cases of trisomy 21, in 8 of which hypoplastic/absent nasal bone was observed. Furthermore, absence of nasal bone was recorded in 24 of 1733 chromosomally normal fetuses.
Nasal bone evaluation may improve the detection of trisomy 21 in the first trimester in an unselected obstetric population. Although numerically limited, our experience confirms that delayed nasal bone ossification (hypoplasia/absence of nasal bone) is rarely observed in chromosomally normal fetuses (1.4%). An appropriate training of operators is mandatory in order to achieve an acceptable performance.
本研究旨在评估在转诊至本中心的未选择的产科人群中，孕11至14周时鼻骨骨化作为21三体综合征标志物的意义。
对总共1906例孕11至14周接受颈部透明带扫描的连续胎儿进行鼻骨发育不全/鼻骨缺失情况的评估。所获数据与胎儿核型相关。
1752例胎儿（91.9%）成功获取胎儿侧面图像。19例染色体异常胎儿中有12例鼻骨发育不全/缺失。其中有10例21三体综合征，8例观察到鼻骨发育不全/缺失。此外，1733例染色体正常胎儿中有24例记录为鼻骨缺失。
鼻骨评估可能会提高未选择的产科人群孕早期21三体综合征的检出率。尽管数量有限，但我们的经验证实，染色体正常的胎儿中很少观察到鼻骨骨化延迟（鼻骨发育不全/缺失）（1.4%）。为了获得可接受的表现，对操作人员进行适当培训是必不可少的。
