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.Clinical study on 156 cases with hydrops fetalis
Shengmou LIN ; Chenhong WANG ; Xiaoyu ZHU ; Shengli LI ; Saimu LIN ; Qun FANG
Chinese Journal of Obstetrics and Gynecology 2011;46(12):905-910
Objective To investigate the ultrasound characteristics,etiology and prognosis in hydrops fetalis.Methods From September 2002 to May 2010,156 hydrops fetalis presented in Shenzhen Maternity and Child Healthcare Hospital were studied retrospectively,including ultrasound characteristics,etiology,and prognosis.Results All of the 112 typical hydrops fetalis,20 cases with isolated ascites,8 cases with isolated pleural effusion,7 cases with isolated pericardial effusion,5 cases with isolated subcutaneous edema,4 cases with isolated placental thickening were observed by ultrasonography.The major etiology and associated diagnosis consisted of 35.9% (56/156) of non-immune anemia,9.6% (15/156) of cardiac abnormalities,7.1% (11/156) of intrauterine infection,6.4% (10/156) of twin problems,5.8% (9/156) of meconium peritonitis,5.1% (8/156) of thoracic-lung disease,4.5% (7/156) of chromosomal abnormalities,1.9% (3/156) of immune anemia.Alpha thalassemia was the most common non-immune anemia (96%,54/56).An etiology and associated diagnosis could be determined in 81.4% ( 127/156 ) of cases.Follow-up data showed that 7 cases were fetal death,110 women elected to terminate their pregnancies,3 cases lost follow-up,the other 36 cases preserve continuing pregnancy,including 28 liveborn infants and 8 fetal deaths.Etiology of twin-twin transfusion syndrome,meconium peritonitis,congenital chylothorax,intrauterine infection,cardiac abnormalities and so on had survived fetuscases.The survival rate of typical hydrops fetalis in the present series was 3.6% ( 4/112 ).Conclusions Ascites is the most common characteristics of sonogram in hydrops fetalis.The etiology of hydrops fetalis is extremelycomplex.The prognosis is associated with the etiology and hydrops subtype.

Result Analysis
Print
Save
E-mail