孕早期超声观察腭线筛查胎儿唇腭裂

Ultrasonic observation on palatal line in early pregnancy for screening fetal cleft lip and palate

目的评价孕早期超声观察腭线筛查胎儿唇腭裂的价值。方法回顾性分析14360胎接受超声颈后透明层厚度(NT)检查的孕早期胎儿,观察胎儿腭线表现,记录胎儿转归,评价孕早期超声观察腭线筛查胎儿唇腭裂的效能。结果孕早期超声提示14327胎(14327/14360,99.77%)腭线正常,其中7胎经随访证实存在唇腭裂;33胎(33/14360,0.23%)腭线异常,其中4胎腭线为小裂隙,随访证实无唇腭裂,29胎随访证实腭线异常,包括小裂隙8胎、大裂隙4胎、前部缺失11胎及腭线变细/变短6胎。孕中期超声提示36胎唇腭裂,并于出生后或经引产证实,包括4胎单纯唇裂、10胎单纯继发性腭裂、17胎单侧唇腭裂,5胎双侧唇腭裂。超声观察腭线预测胎儿唇腭裂的敏感度为80.56%(29/36),特异度为99.97%(14320/14324),阳性预测值为87.88%(29/33),阴性预测值为99.95%(14320/14327)。结论孕早期超声观察胎儿NT平面腭线可作为筛查胎儿唇腭裂的指标,值得推广。

Objective To explore the value of ultrasonic observation on palatal line in early pregnancy for screening for fetal cleft lip and palate.Methods A total of 14360 fetuses underwent ultrasound nuchal translucency(NT)examination in early pregnancy.The performance of fetal palatal line was observed,and the results of the fetus after birth or induction of labor were recorded.The effectiveness of ultrasonic observation on palatal line in early pregnancy for predicting fetal cleft lip and palate was evaluated.Results Ultrasound in early pregnancy showed 14327 fetuses(14327/14360,99.77%)with normal palate line,among them 7 fetuses had cleft lip and palate.Abnormal palate lines were found in 33 fetuses(33/14360,0.23%),including 4 fetuses had small cleft palate line but no cleft lip nor palate confirmed by follow-up,8 fetuses with small clefts,4 with large slits,11 with anterior missing and 6 with thinning/shortening of the palate line.Ultrasound of metaphase pregnant showed 36 fetuses with cleft lip and palate,which were confirmed after birth or induction of labor,including 4 fetuses of simple cleft lip,10 of simple secondary cleft palate,17 of unilateral cleft lip and palate and 5 fetuses of bilateral cleft lip and palate.The sensitivity,specificity,positive predictive value and negative predictive value of ultrasonic observation on palatal line in early pregnancy for predicting fetal cleft lip and palate was 80.56%(29/36),99.97%(14320/14324),87.88%(29/33)and 99.95%(14320/14327),respectively.Conclusion Palatal line observed with ultrasound could be used as a screening marker for fetal cleft lip and palate in early pregnancy,which was worthy of promotion.