实用妇产科杂志2025，Vol.41Issue(6)：508-513,6.
胎儿右锁骨下动脉迷走的产前筛查及遗传学分析
Prenatal Screening and Genetic Analysis of Fetal Aberrant Right Subclavian Ar-tery
摘要
Abstract
Objective:To investigate the clinical significance of prenatal screening and genetic analysis in the diagnosis of fetal aberrant right subclavian artery(ARSA).Methods:The ultrasonographic features of ARSA fetu-ses detected by prenatal ultrasound at the University of Hong Kong-Shenzhen Hospital from October 2017 to March 2022 were retrospectively analyzed.The fetuses were divided into isolated ARSA group and complicated ARSA group.Their genetic analysis results and pregnancy outcome were analyzed.Results:Among 30,260 preg-nant women,185 fetuses were diagnosed with ARSA by prenatal ultrasound screening,with an incidence of 0.6％;5 fetuses(2.6％)were diagnosed by ultrasound in the first trimester,and the remaining were diagnosed by fetal grade Ⅲ structural ultrasound examination at 20～24 weeks' gestation.Among them,158 fetuses(85.4％)had isolated ARSA,and 27(14.6％)had complicated ARSA.Among fetuses with ARSA and other structural abnormal-ities,cardiovascular system accounted for the highest proportion(44.4％),followed by nervous system(22.2％)and urinary system(22.2％).Through genetic analysis,8.3％(4/48)fetuses with isolated ARSA and 40.0％(4/10)fetuses with complicated ARSA were found to have chromosomal numerical or structural abnormalities,with statis-tically significant difference between the two groups(P=0.024).Genetic analysis was completed in 48 isolated ARSA,and the positive rate of pathogenic copy number variants(CNV)was 4.2％(2/48),which was not signifi-cantly different from the pathogenic CNV incidence rate of 0.4％(1/239)in elderly pregnant cases during the same period(P=0.074).The Down syndrome positive likelihood ratio(LR+)for isolated ARSA was 2.5 and the Down syndrome LR+for complicated ARSA was 49.6.Conclusions:Complicated ARSA is often associated with cardiovascular abnormalities and is more likely to develop Down syndrome than isolated ARSA.Although the inci-dence of pCNV in isolated ARSA is slightly higher than the natural incidence,the correlation between pCNV and i-solated ARSA has not been clearly determined by the current sample size.关键词
胎儿/右锁骨下动脉迷走/产前诊断/似然比/拷贝数变异Key words
Fetus/Aberrant right subclavian artery/Prenatal diagnosis/Likelihood ratio/Copy number variants分类
医药卫生引用本文复制引用
朱梦洁,唐海燕,李艳颜,褚永艳,农丽录,罗力冰,曾婷,代小英,林胜谋..胎儿右锁骨下动脉迷走的产前筛查及遗传学分析[J].实用妇产科杂志,2025,41(6):508-513,6.基金项目
深圳市罕见病临床医学研究中心项目(编号:LCYSSQ20220823091402005) （编号:LCYSSQ20220823091402005）
深圳市医疗卫生三名工程项目(编号:SZSM202311022) （编号:SZSM202311022）
