1.Prenatal Screening and Genetic Analysis of Fetal Aberrant Right Subclavian Ar-tery
Mengjie ZHU ; Haiyan TANG ; Yanyan LI ; Yongyan CHU ; Lilu NONG ; Libing LUO ; Ting ZENG ; Xiaoying DAI ; Shengmou LIN
Journal of Practical Obstetrics and Gynecology 2025;41(6):508-513
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.
2.Prenatal Screening and Genetic Analysis of Fetal Aberrant Right Subclavian Ar-tery
Mengjie ZHU ; Haiyan TANG ; Yanyan LI ; Yongyan CHU ; Lilu NONG ; Libing LUO ; Ting ZENG ; Xiaoying DAI ; Shengmou LIN
Journal of Practical Obstetrics and Gynecology 2025;41(6):508-513
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.
3.The Role of Cerebral-Placenta-Uterine Ratio in Predicting Late-Onset Fetal Growth Restriction
Yongyan CHU ; Haiyan TANG ; Jiayi ZHANG ; Chuqin XIONG ; Haoyue HUANG ; Runhe LIANG ; Cuiying LEI ; Ting ZENG ; Yanyan LI ; Li HE ; Minping CHEN ; Libei DU ; Shengmou LIN
Journal of Practical Obstetrics and Gynecology 2024;40(1):36-41
Objective:To evaluate the efficacy of cerebral-placental-uterine ratio(CPUR)in predicting late-on-set fetal growth restriction(FGR).Methods:From May 2020 to May 2021,1255 women with singleton pregnancy who underwent prenatal examinations at the University of Hong Kong Shenzhen Hospital were selected for fetal growth and Doppler measurements at 35-37 +6 weeks of gestation.Pregnant women with birth weight of newbo-rns<the 10th percentile were the FGR group.The pulsatility index(PI)of uterine artery(UtA),umbilical artery(UA)and fetal middle cerebral artery(MCA)were analyzed separately and in combination.ROC curve was used to analyze the cerebral-placental-uterine ratio(CPUR),cerebral-placental ratio(CPR),cerebral-uterine ratio(C-UtA)for predicting late-onset FGR;and to evaluate the sensitivity,positive and negative predictive value and of CPUR in the prediction of late-onset FGR.Results:The area under the curve(AUC)of CPUR,CPR,C-UtA and mean UtA-PI for FGR grope were 0.88,0.86,0.84 and 0.72.Under certain cut-off values and 87% specificity,the specificity of CPUR,CPR,C-UtA and mean UtA-Pifor predicting FGR group was 43.2%,46.6%,39.8% and 23.9%,respectively.The positive predictive values of CPUR,CPR,C-UtA and mean UtA-PI,UA-PI for predicting FGR group were 90.5%,71.9%,83.3%,63.6%and 5.2%,respectively.Conclusions:CPUR is more effective in predicting late onset FGR than CPR,C-UtA and mean UtA-PI.It can effectively increase the detection rate of fetal growth restrictionand reduce the FGR risk.
4.Expression change of stromal cell-derived factor 1α in retinas after partial optic nerve injury
Dongchao PAN ; Yongyan BI ; Dongfu FENG ; Ertao CHEN ; Shenghua CHU ; Yang WANG
Journal of Shanghai Jiaotong University(Medical Science) 2009;29(12):1424-1427
Objective To investigate the changes of expression of stromal cell-derived factor 1α (SDF-1α) in retinas after partial optic nerve injury in rats. Methods Models with injury of partial optic nerve were induced in rats. Retinal tissues were collected 1,2,3,5,7,10 and 14 d after injury. Enzyme linked immunosorbent assay and Real-time quantitative PCR were employed to detect the expression of SDF-1α protein and mRNA in retinal tissues respectively in injury group (n=28), sham operated group (n=28) and normal control group (n=12). Results The expression of SDF-1α protein and mRNA in retinas was higher than that in sham operated group and normal control group at different time points after injury (P<0.01), and it reached the peak at the 5th day after injury. The expression of SDF-1α protein and mRNA maintained a high level at the 14th day after injury. Conclusion The expression of SDF-1α protein and mRNA is up-regulated after partial optic nerve injury, and may last for a long time.
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