中孕期产前超声筛查胎儿鼻骨的临床价值

Clinical Value of Prenatal Ultrasound Screening for Fetal Nasal Bone in Mid Pregnancy

目的:中孕期产前超声筛查胎儿鼻骨的临床价值。方法:选取某科室2017年1月～12月共9562例(包括双胎400例)来某院常规及系统超声检查的中孕期孕妇作为研究对象,观察胎儿鼻骨的发育情况,同时对胎儿鼻骨进行测量,记录鼻骨异常胎儿的其他发育畸形情况,并行染色体核型分析,中孕期胎儿鼻骨异常结果及引产或产后随访结果进行对照分析。结果:共检出胎儿鼻骨异常72例,其中包括鼻骨缺失53例,构成比为73.6%;鼻骨短小19例,构成比为26.4%。鼻骨缺失的构成比明显高于鼻骨短小的构成比,差异有统计学意义(P<0.05); 27例鼻骨异常胎儿合并多发畸形并引产;24例接受胎儿羊水穿刺检查, 11例染色体核型分析结果显示异常,其中包括21-三体9例,构成比为81.8%;18-三体1例,构成比为9.1%。13-三体1例,构成比为9.1%。21-三体异常的构成比明显高于18-三体及13-三体的异常构成比,差异有统计学意义(P<0.05);12例羊水穿刺染色体核型分析结果正常,1例显示微缺失、微重复。结论:中孕期正常胎儿鼻骨显示率100%,中孕期筛查胎儿鼻骨,可预测胎儿鼻骨发育情况,有助于提升染色体异常的检出率。

Objective:To evaluate the clinical value of prenatal ultrasound screening for fetal nasal bone in mid pregnancy.Methods:9562 pregnant women (including 400 twins) in a hospital for routine and systematic ultrasound examination from January to December 2017 were selected,observed the development of fetal nasal bone and measured the fetal nasal bone,recorded the other developmental malformations of the fetus with abnormal nasal bone and analyzed the chromosomal karyotype.The abnormal results of fetal nasal bone and the results of induced labor or postpartum follow-up were compared and analyzed.Results:72 cases of fetal nasal bone abnormalities were detected,including 53 cases of nasal bone defect,the composition ratio was 73.6%,19 cases of nasal bone short,the composition ratio was 26.4%,the composition ratio of nasal bone defect was significantly higher than the composition ratio of nasal bone short,the difference was statistically significant ( P <0.05);27 cases of nasal bone abnormalities had multiple malformations and induced labor;24 cases were examined by fetal amniotic fluid puncture;The karyotype analysis of 11 cases of fetal amniocentesis showed abnormalities,including 9 cases of trisomy 21,composition ratio is 81.8%.1 case of trisomy 18,composition ratio is 9.1%,1 case of trisomy 13,composition ratio is 9.1%,and the constituent ratio of trisomy 21,which were significantly higher than those of trisomy 18 and 13 ( P <0.05);12 cases of amniocentesis chromosome karyotype analysis results were normal,1 case showed microdeletion,microduplication.Conclusion:The display rate of normal fetal nasal bone in mid pregnancy is 100%.Screening fetal nasal bone in the mid pregnancy can predict the development of fetal nasal bone and help to improve the detection rate of chromosomal abnormalities.