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Validity of Different Methods to prenatal screening for Down’s Syndrom During First and Second Trimester Pregnancy of Chinese Women

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Biomedical and Environmental Sciences 2013年第2期26卷 87-93页

作者： YANG Fang WANG Hua SHI Jing Cheng HU Ming Department of Epidemiology and Biostatistics School of Public HealthCentral South University Department of Molecular Biology School of Bioscience and TechnologyCentral South University Center of prenatal diagnosis Maternal and Child Health Hospital of Hunan Province

Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.

关键词： prenatal screening Down's syndrome First trimester, Second trimester Marker

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Health Economic Evaluation of prenatal screening Strategies for Down Syndrome Detection

Health Economic Evaluation of Prenatal Screening Strategies ...

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2019年浙江省检验医学学术大会

作者： Yibo chen Zhenyu Wang Jie Qi Wenbo Lu Ningbo Women and Children Hospital

Background:An important issue for perinatal medical workers is how to choose the best prenatal screening strategy for the region. Cost-benefit analysis(CBA) is one of the important basis for measuring the feasibility of screening implementation and judging the pros and cons of screening ***:A retrospective analysis of 72,901 pregnant women with the prenatal screening of Down syndrome in Ningbo from May 2017 to May 2018, including 20,526 Second trimester pregnancy screening strategies and 34,025 first and second—trimester integrated screening strategies, There were 18,350 cases of non-invasive prenatal screening strategies. Through the "decision tree" model, the efficacy and safety of three different screening strategies were simulated;the health economics characteristics of each screening strategy were compared through cost-effectiveness analysis and cost-benefit *** :(1)Efficacy of 3 screening strategies: non-invasive prenatal screening> first and second—trimester integrated screening strategies > Second trimester pregnancy screening strategies;(2) Safety: non-invasive prenatal screening> first and second—trimester integrated screening strategies > Second trimester pregnancy screening strategies;(3) Cost-effectiveness analysis and cost-benefit analysis: the ICER of the three screening programs are prenatal screening has the highest CER, and the costeffective net present value is negative. If the screening price is reduced to 1, and the project implementation is a positive benefit, which has economic *** :Non-invasive prenatal screening has the highest screening efficiency, and prenatal screening is the most economical in mid-pregnancy;non-invasive prenatal screening is the future development direction of DS.

关键词： Down’s syndrome prenatal screening non-invasive prenatal screening cost effect analysis

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Analysis of prenatal screening situation in Sichuan area from 2007 to 2009

Analysis of prenatal screening situation in Sichuan area fro...

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2011中国妇产科学术会议暨浙江省计划生育与生殖医学学...

作者： GONG Yun-Hui,ZHOU Rong,ZHANG Xun,LI Tian-Lun,YUAN Li-Xin,HE Bin,HAN Dai-Wen,TANG Jun,ZHOU Fen-e,QIU Dong-Shen,WANG He West China Second University Hospital,Sichuan University/prenatal Diagnosis Center of Sichuan Province

Objective To analyses the prenatal screening situation in Sichuan area. Methods The concentrations of AFP,freeβhCG and uE3 in the serum of mid-trimester(15-20 weeks pregnancy) pregnant women were *** risk of Down syndrome,Trisomy 18 and Nervous tube defect were evaluated by using the risk evaluation software. Results In the three years,the total rate of prenatal screening was 5.08%.Among the high risk and low risk pregnant women,the total positive rate was 23.68%and 8.59%*** the high risk group,the positive rate of Down syndrome,Trisomy 18 and Nervous tube defect was 21.46%,0.96%and 1.26%respectively;in the low risk group it was 7.34%,0.13%and 1.11%,respectively. Conclusion As the second level intervention measure of birth defect,prenatal screening plays an important role in decreasing birth defect rate,but it should be further popularized.

关键词： prenatal screening Down syndromes Trisomy 18 Nervous tube defect

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Application of intelligent algorithms in Down syndrome screening during second trimester pregnancy

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World Journal of Clinical Cases 2021年第18期9卷 4573-4584页

作者： Hong-Guo Zhang Yu-Ting Jiang Si-Da Dai Ling Li Xiao-Nan Hu Rui-Zhi Liu Center for Reproductive Medicine and Center for prenatal Diagnosis First HospitalJilin UniversityChangchun 130021Jilin ProvinceChina College of Communication Engineering Jilin UniversityChangchun 130012Jilin ProvinceChina

BACKGROUND Down syndrome(DS)is one of the most common chromosomal aneuploidy *** screening and diagnostic tests can aid the early diagnosis,appropriate management of these fetuses,and give parents an informed choice about whether or not to terminate a *** recent years,investigations have been conducted to achieve a high detection rate(DR)and reduce the false positive rate(FPR).Hospitals have accumulated large numbers of screened ***,artificial intelligence methods are rarely used in the risk assessment of prenatal screening for *** To use a support vector machine algorithm,classification and regression tree algorithm,and AdaBoost algorithm in machine learning for modeling and analysis of prenatal DS *** The dataset was from the Center for prenatal Diagnosis at the First Hospital of Jilin *** designed and developed intelligent algorithms based on the synthetic minority over-sampling technique(SMOTE)-Tomek and adaptive synthetic sampling over-sampling techniques to preprocess the dataset of prenatal screening *** machine learning model was then ***,the feasibility of artificial intelligence algorithms in DS screening evaluation is *** The database contained 31 DS diagnosed cases,accounting for 0.03%of all *** dataset showed a large difference between the numbers of DS affected and non-affected cases.A combination of over-sampling and undersampling techniques can greatly increase the performance of the algorithm at processing non-balanced *** the number of iterations increases,the combination of the classification and regression tree algorithm and the SMOTETomek over-sampling technique can obtain a high DR while keeping the FPR to a *** The support vector machine algorithm and the classification and regression tree algorithm achieved good results on the DS screening *** the T21 risk cutoff value was set to 270,machine learning m

关键词： Down syndrome prenatal screening Algorithms Classification and regression tree Support vector machine Risk cutoff value

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Current situation and development of prenatal diagnosis in China

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Frontiers of Medicine 2010年第3期4卷 271-274页

作者： Xu-Ming BIAN Qi GUO Qing-Wei QI Department of Obstetrics and Gynecology Peking Union Medical College HospitalBeijing 100730China

prenatal screening and diagnosis are major methods for control of birth defects,which is a very important problem in ***,we review current situation and development of prenatal screening and diagnosis in China's Mainland,including prenatal screening and prenatal diagnosis of fetal chromosome abnormalities,non-invasive prenatal diagnostic techniques and prenatal diagnosis of monogenic diseases,polygenic disease and congenital metabolic *** also discuss epidemiology of birth defects and genetic diseases in China and related ethical issues of prenatal diagnosis.

关键词： prenatal diagnosis prenatal screening China

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Comparison of second-trimester maternal serum free-p-human chorionic gonadotropin and a-fetoprotein between normal singleton and twin pregnancies： a population-based study

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Chinese Medical Journal 2010年第5期 555-558页

作者： ZHENG Ming-ming HU Ya-li ZHANG Chun-yan RU Tong LIU Qi-lan XU Bi-yun CHEN Qi-guang XU Zheng-feng ZHANG Yin ZHONG Xiao-ling Department of Obstetrics and Gynecology Nanjing Drum Tower Hospital Affiliated Hospital of Nanjing University Medical School Nanjing Jiangsu 210008 China

Background The second-trimester maternal serum screening in twin pregnancy is still controversial, as the serum marker levels in twins are not as clear as those in singletons. This study aimed to evaluate the relationship between the levels of the second-trimester maternal serum free β-human chorionic gonadotropin （free β-HCG） and a-fetoprotein （AFP） in normal twin and singleton pregnancies and to estimate feasible analysis methods for utilizing these markers in second trimester screening for twin pregnancy. Methods On the basis of a prospective population-based study of second-trimester maternal serum screening, the concentrations of maternal serum AFP and free β-HCG of 195 normal twin pregnancy and 26 512 singleton controls at gestational weeks 15 to 20 were measured by time-resolved fluoroimmunoassay in one laboratory. The levels of markers were compared between the twins and singletons using weight-correction and gestational age-specific model. Results According to the research protocol, 95 communities were randomly sampled, which covered the whole Jiangsu province, the east of China. A total of 26 803 pregnant women （98%）, from the target population accepted prenatal screening for maternal serum AFP, β-HCG detection, and all babies were followed up for at least six months. There were 197 （0.73%） twin pregnancies, of which one case had fetal trisomy 18, and one case with fetal anencephaly. The others were normal twin pregnancy. From a total enrollment of 26 803 women participants, 26 512 women with normal singleton pregnancies were selected as the model controls. The other 291 pregnancies, including trisomy 21, neural tube defect （NTD）, trisomy 18, and other fetal abnormalities, were excluded. No significant differences were found in the medians of gestational age-specific maternal serum free β-hCG and AFP in normal twin pregnancy comparing with twice those in model controls with the exception of the medians for free β-hCG during the 16th gestational week （P=0.0

关键词： prenatal screening twin pregnancy pregnancy trimester, second chorionic gonadotropin alpha-fetoproteins

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Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Substitutes of Alpha-Fetoprotein in screening for Fetal Trisomy 18

Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Sub...

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2019浙江省妇产科医师大会及妇产科学学术年会

作者： Yiming Chen Hao Wang Sha Lu Jin Mei Yixuan Yin Yanzhen Zhang Wen Zhang Jiejing Lian Min Wang Wensheng Hu Department of prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of MedicineZhejiang University

Objectives To evaluate the effectiveness of alpha-fetoprotein variants(AFP-L2,AFP-L3) for fetal screening of Trisomy 18 in place of alpha fetoprotein(AFP).Methods A case-control study,per the presence or absence of fetal Trisomy 18,was *** case group included 39 pregnant women diagnosed by karyotype analysis of amniotic fluid cells as bearing Trisomy 18 *** control group was randomly selected and included 48 pregnant women with clinically normal and healthy fetal *** serum AFP-L2 and AFP-L3 concentrations for the two groups of pregnant women were detected by enzyme-linked immunosorbent *** operating characteristic(ROC) curves were used to determine the optimal cutoff value,area under the curve(AUC),and assess the screening performance of AFP-L2 and *** The AFP-L2 and AFP-L3 concentrations in pregnant women with Trisomy 18 fetuses were 7.95±3.57 ng/mL(6.79 ～ 9.10 ng/mL),and 2.53±1.80 ng/mL(1.94 ～ 3.11 ng/mL),respectively,which was significantly higher than those of the control group(3.73±1.63 ng/mL [3.26 ～ 4.20],t=6.820,Pscreening combinations were all *** the contro

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 Trisomy 18. case-controlled study

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Correlation Risk Modelling of Maternal Serum Alpha-Fetoprotein Variants(AFP-L2 and AFP-L3) in the Detection of Fetal Open Neural Tube Defects and Abdominal Wall Defects

Correlation Risk Modelling of Maternal Serum Alpha-Fetoprote...

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2019浙江省妇产科医师大会及妇产科学学术年会

作者： Yiming Chen Sha Lu Liu,Rimin Wen Zhang Chen,Lei Yixuan Yin Zhang,Lidan Jiejing Lian Jin Aiyu Wensheng Hu Department of prenatal diagnosis and screening center Hangzhou Women's Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of MedicineZhejiang University Department of Cell Biology and Medical Genetics School of MedicineZhejiang University866Yuhangtang Road

Objective:To evaluate correlation risk model screening efficiency of the maternal serum alphafetoprotein variants L2 and L3(AFP-L2 and AFP-L3) in the detection of fetal open neural tube defects(ONTD) and abdominal wall defects(AWD).Methods:We divided Subjects into the ONTD group(21 cases),the AWD group(16 cases) and the control group(38 cases) depending on the presence or absence of fetal ONTD or *** levels of AFP-L2 and AFP-L3 using the multiple of the median(MoM) were detected by Enzyme linked immunosorbent assay(ELISA).Comparative analysis was performed on AFP-L2 and AFP-L3 levels using a model created by multiple indicators to determine the efficiency of ONTD or AWD *** operating characteristic(ROC) curves were used to determine the optimal cut-off value,area under the curve(AUC) and to evaluate the screening performance of AFP-L2 and ***:AFP-L2 levels in the ONTD group and the AWD group were 1.77(0.76-2.89) MoM and 1.79(0.77-4.41) MoM,*** were both significantly higher than those in the control group [1.01(0.15-1.53) MoM,Pscreening ONTD or AWD using AFP-L2 was 0.830 [95% confidence interval(CI):0.734-0.926,Pscreening efficiency than the original AFP MOM as a single-value ***:Mid-pregnancy maternal serum levels of AFP-L2 and AFP-L3 are good bi

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 open neural tube abnormalities case-controlled study

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Correlation Risk Modelling of Maternal Serum Alpha-Fetoprotein Variants(AFP-L2 and AFP-L3) in the Detection of Fetal Open Neural Tube Defects and Abdominal Wall Defects

Correlation Risk Modelling of Maternal Serum Alpha-Fetoprote...

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2019长三角围产医学学术会议暨浙江省围产医学学术大会

作者： Yiming Chen Sha Lu Liu Rimin Wen Zhang Chen Lei Yixuan Yin Zhang Lidan Jiejing Lian Jin Aiyu Wensheng Hu Department of prenatal diagnosis and screening center Hangzhou Women’s Hospital (Hangzhou Maternity and Child Health Care Hospital) Department of Cell Biology and Medical Genetics School of Medicine Zhejiang University

Objective: To evaluate correlation risk model screening efficiency of the maternal serum alphafetoprotein variants L2 and L3(AFP-L2 and AFP-L3) in the detection of fetal open neural tube defects(ONTD) and abdominal wall defects(AWD).Methods: We divided Subjects into the ONTD group(21 cases), the AWD group(16 cases) and the control group(38 cases) depending on the presence or absence of fetal ONTD or AWD. Serum levels of AFP-L2 and AFP-L3 using the multiple of the median(MoM) were detected by Enzyme linked immunosorbent assay(ELISA). Comparative analysis was performed on AFP-L2 and AFP-L3 levels using a model created by multiple indicators to determine the efficiency of ONTD or AWD screening. Receiver operating characteristic(ROC) curves were used to determine the optimal cut-off value, area under the curve(AUC) and to evaluate the screening performance of AFP-L2 and AFP-L3. Results: AFP-L2 levels in the ONTD group and the AWD group were 1.77(0.76-2.89) MoM and 1.79(0.77-4.41) MoM, respectively. They were both significantly higher than those in the control group [1.01(0.15-1.53) MoM, Pscreening ONTD or AWD using AFP-L2 was 0.830 [95% confidence interval(CI): 0.734-0.926, Pscreening efficiency than the original AFP MOM as a single-value model. Conclusion: Mid-pregnancy maternal serum level

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 open neural tube abnormalities case-controlled study

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Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Substitutes of Alpha-Fetoprotein in screening for Fetal Trisomy 18

Effectiveness of Alpha-Fetoprotein Variants L2 and L3 as Sub...

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2019长三角围产医学学术会议暨浙江省围产医学学术大会

Objectives To evaluate the effectiveness of alpha-fetoprotein variants(AFP-L2, AFP-L3) for fetal screening of Trisomy 18 in place of alpha fetoprotein(AFP).Methods A case-control study, per the presence or absence of fetal Trisomy 18, was conducted. The case group included 39 pregnant women diagnosed by karyotype analysis of amniotic fluid cells as bearing Trisomy 18 fetuses. The control group was randomly selected and included 48 pregnant women with clinically normal and healthy fetal development. The serum AFP-L2 and AFP-L3 concentrations for the two groups of pregnant women were detected by enzyme-linked immunosorbent assays. Receiver operating characteristic(ROC) curves were used to determine the optimal cutoff value, area under the curve(AUC), and assess the screening performance of AFP-L2 and *** The AFP-L2 and AFP-L3 concentrations in pregnant women with Trisomy 18 fetuses were 7.95±3.57 ng/mL(6.79 ～ 9.10 ng/mL), and 2.53±1.80 ng/mL(1.94 ～ 3.11 ng/mL), respectively, which was significantly higher than those of the control group(3.73±1.63 ng/mL [3.26 ～ 4.20], t=6.820, Pscreening

关键词： pregnant women mid-pregnancy prenatal screening fetoprotein variant AFP-L2/AFP-L3 Trisomy 18. case-controlled study

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