摘要
目的分析产前超声检出胎儿鼻骨低平的临床意义。方法回顾性分析20胎鼻骨低平胎儿(鼻额角>140°)。于孕20~28^(+6)周进行产前超声检查,孕妇均于孕16~20周接受唐氏筛查或无创DNA筛查,发现高风险或胎儿结构异常时行羊水穿刺或脐血穿刺,分析染色体是否存在异常;观察胎儿面部正中矢状切面鼻额角及是否合并其他结构异常。结果20胎胎儿鼻额角为143.10°~157.81°,平均(149.84±4.06)°;其中11胎合并其他结构异常,包括小头畸形、股骨短、脊柱异常、小下颌、盖伦静脉瘤等。对10胎行羊水穿刺、2胎行脐血穿刺,于其中4胎检出染色体异常,包括2胎21三体、1胎18三体及1胎基因组拷贝数变异测序(CNV-seq)异常(即X染色体p22.33-p22.32处缺失2.14 Mb区域)。获诊后10名孕妇继续妊娠,后顺产或接受剖宫产;9名接受引产,1名失访。结论鼻骨低平胎儿常合并其他结构异常;产前检出胎儿鼻骨低平提示其可能存在染色体异常,包括非整倍体、微缺失等。
Objective To analyze the clinical significances of fetal depressed nasal root detected with prenatal ultrasound.Methods Data of 20 fetuses with depressed nasal root(nasofrontal angle>140°)were retrospectively analyzed.Prenatal ultrasound examination was performed at 20—28^(+6)weeks of gestation,all pregnant women underwent Down’s screening or non-invasive DNA screening at 16—20 weeks of gestation.Amniocentesis or umbilical cord blood puncture was performed when high risk or fetal structural abnormalities were found to screen chromosome abnormalities.The nasofrontal angle on the midsagittal plane of fetal face was measured,and whether there were other structural abnormalities were observed.Results The nasofrontal angle of 20 fetuses ranged from 143.10°to 157.80°,with an average of(149.84±4.06)°.Other structural abnormalities were found in 11 fetuses,including microcephaly,short femur,abnormal spine,small mandible,Galen vein tumor,etc.Amniocentesis was performed in 10 fetuses,umbilical cord blood aspiration was performed in 2 fetuses,and chromosome abnormalities were detected in 4 fetuses,including 2 fetuses with trisomy 21,1 with trisomy 18 and 1 with copy number variation sequencing(CNV-seq)abnormalities(2.14 Mb region deletion at p22.33-p22.32 of X chromosome).Pregnancy continued in 10 women who finally experienced vaginal delivery or cesarean section,9 induced labor and 1 lost to follow-up.Conclusion Depressed fetal nasal root often complicated with other structural abnormalities.Prenatal ultrasonic detection of depressed fetal nasal root might suggest possibility of fetal chromosomal abnormalities,including aneuploidy and microdeletions.
作者
郭习娟
孙聪欣
彭艳艳
陈桂红
邵小柳
启明星
彭园园
GUO Xijuan;SUN Congxin;PENG Yanyan;CHEN Guihong;SHAO Xiaoliu;QI Mingxing;PENG Yuanyuan(Department of Ultrasound,the Fourth Hospital of Shijiazhuang,Gynecology and Obstetrics Hospital Affiliated to Hebei Medical University,Shijiazhuang 050031,China;Prenatal Diagnosis Center,the Fourth Hospital of Shijiazhuang,Gynecology and Obstetrics Hospital Affiliated to Hebei Medical University,Shijiazhuang 050031,China)
出处
《中国医学影像技术》
CSCD
北大核心
2022年第5期722-725,共4页
Chinese Journal of Medical Imaging Technology
基金
河北省医学科学研究重点课题计划(20181066)。
关键词
鼻骨
胎儿
超声检查
产前
染色体障碍
nasal bone
fetus
ultrasonography
prenatal
chromosome disorders
