标题：中孕期超声筛查胎儿染色体异常软指标的临床应用价值

      作者：车亚玲 1，李璠 2，陈芳 1    1.西安市中心医院妇产科，陕西 西安 710003；2.西北工业大学医院超声诊断科，陕西 西安 710072

      卷次： 2019年30卷13期

      【摘要】 目的 探讨超声软指标在中孕期胎儿染色体异常筛查中的应用价值。方法 选择 2012年 2月至2018年3月西安市中心医院妇产科门诊接诊的孕中期(14~28周)孕妇2 621例为研究对象，所有孕妇均进行超声检测，超声软指标阳性孕妇进行进一步无创DNA检测或唐氏筛查，高危孕妇进入产检诊断，超声软指标异常孕妇均随访至分娩或妊娠事件终止。结果 共检出153例超声软指标阳性胎儿，检出率为5.84% (153/2 621)，其中8例为无创基因高风险，29例唐筛高风险，经羊水穿刺核型分析确定染色体异常 21例，均引产证实；鼻骨发育不良或缺失、NT增厚、侧脑室扩张、心室强回声光斑胎儿染色体异常检出率较高，分别为18.92%、14.29%、12.50%、10.00%，染色体异常率随着超声软指标异常数量的增多而增高，差异均有统计学意义(P<0.05)。结论 妊娠中期超声提示侧脑室扩张、鼻骨发育不良或缺失、心室强回声光斑、NT增厚，且合并软指标数量越多的胎儿有较高染色体异常发生率，对于单项软指标异常胎儿可结合无创基因检测和唐氏筛查，以提高胎儿染色体异常检出率，改善围生结局。
      【关键词】 中孕；超声；软指标；妊娠；胎儿；染色体；异常；筛查
      【中图分类号】 R714.5 【文献标识码】 A 【文章编号】 1003—6350（2019）13—1722—04

Clinical value of ultrasound screening for soft markers of fetal chromosomal abnormalities in mid-pregnancy.CHE Ya-ling 1, LI Fan 2, CHEN Fang 1.
1. Department of Obstetrics and Gynecology, Xi'an Central Hospital, Xi'an 710003,Shaanxi, CHINA; 2. Department of Ultrasound Diagnosis, Northwestern Polytechnical University, Xi'an 710072, Shaanxi,CHINA
【Abstract】 Objective To explore the application value of ultrasound soft indicators in screening fetal chromo-somal abnormalities during the second trimester. Methods A total of 2 621 pregnant women in the second trimester ofpregnancy (14-28 weeks) from maternal and obstetric health clinic of Xi'an Central Hospital from February 2012 toMarch 2018 were selected as the research objects. All pregnant women underwent ultrasound testing, and the pregnantwomen with positive soft ultrasound indicators underwent further non-invasive DNA testing or Down's screening.High-risk pregnant women entered the diagnosis of obstetric examination. The pregnant women with abnormal soft ultra-sound indicators were followed up until delivery or termination of pregnancy events. Results A total of 153 fetuseswith positive soft ultrasound markers were detected, with a detection rate of 5.84% (153/2 621). Among them, 8 were athigh risk of non-invasive gene and 29 were at high risk of Down's screening. 21 cases of chromosomal abnormalitieswere confirmed by amniocentesis karyotype analysis, all of which were confirmed by induced labor. The detection ratesof chromosomal abnormalities in fetuses with nasal bone dysplasia or deletion, nacreous thickening (NT), lateral ventric-ular dilatation and ventricular hyperechoic spot were 18.92%, 14.29%, 12.50% and 10.00%, respectively. The rate of chro-mosomal abnormalities increased with the increase of the number of soft index abnormalities (P<0.05). Conclusion Ul-trasound during the second trimester of pregnancy indicates that fetuses with lateral ventricular dilatation, nasal bone dys-plasia or deletion, ventricular hyperechoic spot, NT and softer index have higher incidence of chromosomal abnormali-ties. For fetuses with single soft index abnormalities, free gene detection and Down's screening can be combined to im-prove the detection rate of fetal chromosomal abnormalities and perinatal outcomes.
      【Key words】 Middle pregnancy; Ultrasound; Soft index; Pregnancy; Fetus; Chromosome; Abnormality; Screening