早孕期胎儿鼻骨缺失与染色体异常关系的研究

Relationship between Absent of Fetal Nasal Bone and Fetal Chromosomal Abnormalities in the First Trimester Screening

目的:探讨早孕期胎儿鼻骨缺失与胎儿染色体异常之间的关系。方法:回顾性分析2016年1月至2017年12月广州医科大学附属第三医院产前诊断及胎儿医学中心和福建医科大学附属第一医院超声影像科早孕期超声检查提示胎儿鼻骨缺失的相关资料,分析胎儿单纯鼻骨缺失及其在合并其他超声异常时对诊断染色体异常的价值。结果:高龄孕妇的胎儿单纯鼻骨缺失及合并其他超声异常时胎儿染色体异常的发生率分别为6.78%和75.00%,同非高龄孕妇的胎儿染色体异常率(分别为0.80%和42.50%)比较,差异均有统计学意义(P<0.05)。胎儿单纯鼻骨缺失的染色体异常率为2.72%,当合并其他异常指标时,胎儿染色体异常率升至58.75%,差异有统计学意义(P<0.01)。胎儿鼻骨缺失在合并颈项透明层(NT)增厚时,胎儿染色体异常的总发生率为60.81%。当NT>3.5 mm时胎儿染色体异常率达77.78%,与NT≤3.5 mm时的染色体异常发生率(34.48%)比较,差异有统计学意义(P<0.05)。结论:早孕期超声检查提示胎儿鼻骨缺失时,需详细的胎儿超声结构筛查评估,当发现合并其他超声异常时,临床医师应向孕妇提供遗传咨询,建议行产前诊断以排除胎儿染色体异常。

Objective:To explore the relationship between fetal nasal bone loss and fetal chromosomal abnormalities during early pregnancy.Methods:This was a retrospective study of 298 pregnancies who performed first trimester screening showed absent of fetal nasal bone in the Fetal Medical Center of The Third Affiliated Hospital of Guangzhou Medical University and The First Affiliated Hospital of Fujian Medical University from January 2016 to December 2017.The relationship between the fetal chromosomal abnormalities and absent of fetal nasal bone that isolated or combined with other ultrasound abnormalities was analyzed.Results:The incidence of fetal chromosomal abnormalities in advanced age pregnant women with fetal nasal bone lost or combined other ultrasound abnormalities was 6.78%and 75.00%,respectively.There were significant differences in normal pregnant women(which was 0.80%and 42.50%,respectively)(P<0.05).The chromosomal abnormality rate of isolated absent of fetal nasal bone was 2.72%.When combined other ultrasound abnormalities,the fetal chromosomal abnormal rate rose to 58.75%and the differences was statistically significant(P<0.01).Fetal nasal bone lost combined with NT thickness,the total incidence of fetal chromosomal abnormalities was 60.81%.The fetal chromosomal abnormal rate reached 77.78%when NT>3.5 mm,compared with NT≤3.5 mm(34.48%),there was significant statistical differences(P<0.05).Conclusions:When ultrasound examination suggested absent of fetal nasal bone in the first trimester,it is requires detailed assessment of fetal structure by ultrasound.And when other ultrasound abnormalities are found in the examination,the clinicians should provide genetic counseling to the pregnant woman and recommend best prenatal diagnosis in order to exclude fetal chromosomal abnormalities.