唐氏综合征胎儿鼻骨的超声研究

目的探讨唐氏综合征(又称21三体综合征)与胎儿鼻骨发育不良的关系。方法产前超声测量901例正常中孕期及570例中孕期唐氏综合征高风险胎儿鼻骨,并对22例引产胎儿的鼻骨行X线检查及大体解剖观察。结果1471例胎儿鼻骨超声检测成功率96%(1413例)。22例唐氏综合征胎儿中,产前超声诊断鼻骨缺失1例,鼻骨发育不良(测值小于2.5mm,包括1例鼻骨缺失)11例。结论唐氏综合征胎儿与鼻骨发育不良有密切关系。

Prenatal ultrasound examination of fetal nasal bone in Down's syndrome

Objective To study the relation of fetal nasal bone hypoplasia and trisomy 21 using ultrasonography.Methods Prenatal 901 cases of normal fetuses and 570 cases questionable trisomy 21 fetuses were examinated on ultrasonography.The nasal bone length(NBL)was measured on the mid-sagittal plane,and 22 cases with bone hypoplasia were confirmed after induced abortion by ultrasound,X-ray and anatomy.Results The nasal bone in 1413 fetuses were successfully detected on ultrasound.The nasal bone length of normal fetuses were increased with the gestational age.Eleven cases with nasal bone hypoplasia in 22 fetuses met with confirmed trisomy 21,including nasal bone deficit in 1 and short nasal bone(<2.5 mm)in 10 fetuses.Conclusions Fetal nasal bone hypoplasia was closely related to trisomy 21.