孕11～13＋6周超声检测胎儿鼻骨和颈项透明层的临床研究

摘要

目的探讨孕早期（11～13＋6周）超声检测胎儿鼻骨缺失和颈项透明层增厚的临床意义。方法选择苏州市立医院母子保健中心建卡的孕早期（11～13＋6周）单胎孕妇4200例，采用常规经腹部超声对胎儿鼻骨（ NB）和颈项透明层（ NT）进行检测，观察有无鼻骨缺失，有无颈项透明层增厚（＞3．0 mm为增厚），超声检查与中孕期胎儿畸形筛查结果及引产或产后随访结果进行对照分析。结果产前超声检出胎儿鼻骨和颈项透明层3492例（83．1％，3492/4200），其中鼻骨和颈项透明层检测正常3139例（89．9％，3139/3492）。因体位等原因未检出胎儿鼻骨或颈项透明层708例（16．9％，708/4200）。检出鼻骨和颈项透明层的3492例胎儿产前超声声像图表现：（1）鼻骨缺失3例（0．09％，3/3492），合并颈项透明层增厚1例，染色体检查证实为21-三体2例（66．7％，2/3，）。（2）颈项透明层增厚（＞3．0 mm）351例（10．1％，351/3492），合并鼻骨缺失1例，染色体检查证实为21-三体4例（1．14％，4/351），18-三体1例；Turner综合征1例，染色体正常胎儿中6例（1．71％，6/351）结构异常。（3）3139例鼻骨和颈项透明层检测正常的胎儿中8例染色体或结构异常。结论鼻骨缺失及颈项透明层增厚是孕早期筛查21-三体的重要指标，颈项透明层增厚与其他染色体异常及结构畸形有一定相关性。%Objective To evaluate the clinical significance of fetal nasal bone absence and thickened nuchal translucency ( NT) at 11-13 +6 weeks ultrasound screening .Methods A total of 4200 pregnant women with single fetus registered at Mother and Children ’ s Health Care Center in our hospital were examined at 11-13 +6 gestational weeks .Both fetal nasal bone and NT ultrasound evaluation were offered to assess whether nasal bone is absent and NT is thickened (>3.0 mm) in these cases.Particular attention was paid to the relationship between abnormal findings ,karyotype and pregnancy outcome .Results In all, 3492/4200 cases were included in the study with both NT measurement and nasal bone evaluation .Seven hundred and night cases were excluded because of unavailable clinical outcome .Among 3492 fetuses:(1) There were 3 cases absent of nasal bone .Among the 3 cases without nasal bone , 2 cases ( 1 case combined with thickened NT ) were trisomy 21(66.7%,2/3).(2) There were 351 cases with NT>3.0 mm (10.1%,351/3492).Among the 351 cases with thickened NT,there were 4 with trisomy 21 syndromes (1.14%,4/351,1 case combined with nasal bone absence ),1 with trisomy 18 syndrome,1 with Turner syndrome,6 with structural anomalies but normal karyotype (1.71%,6/351).(3)Among the 3139 cases with normal nasal bone and NT ,there were 8 cases with chromosomal or structural anomalies .Conclusions Absent nasal bone and thickened NT are important markers of trisomy 21 in the first trimester ultrasound screening .Thickened NT has significant correlation with other fetal chromosomal and structural anomalies .