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随着早孕期一站式唐氏综合征筛查(one-stop clinic for assessment of fetal risk,OSCAR)[1]的普及和高分辨率超声诊断仪的广泛应用,11~13+6孕周的超声筛查不仅仅局限于测量胎儿颈项透明层(nuchal translucency,NT)的厚度,还可在早孕期筛查明显、严重的颜面部畸形[2]。1胎儿颌面部畸形与染色体及基因异常的关系S.Cicero等[3]对3788例胎儿早孕期超声图像
With the widespread use of one-stop clinic for assessment of fetal risk (OSCAR) [1] in the first trimester and the widespread use of high-resolution ultrasound diagnostic apparatus, the 11 to 13 + 6 gestational weeks Ultrasound screening is not limited to measuring the thickness of the fetal neck nuchal translucency (NT), but screening for significant and severe facial deformities in early pregnancy [2]. A fetal maxillofacial deformity and chromosome and genetic abnormalities S.Cicero et al [3] of 3788 cases of fetal early pregnancy ultrasound images