1.Localization of gestational age reference table and its application in prenatal screening.
Linlin DOU ; Guohui YANG ; Weiming MO
Journal of Zhejiang University. Medical sciences 2017;46(1):59-65
To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening.Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4.0.With localized formula, the total positive rate of Down syndrome, trisomy 18 syndrome and deformity of neural tube was decreased from 6.96% to 5.85% (<0.05), in which the positive rate of Down syndrome decreased (<0.05), that of deformity of neural tube increased (<0.05), and that of trisomy 18 syndrome remained the same (>0.05). The median MoMs of free-hCG β and α-fetoprotein calculated using localized formula were significantly different from those calculated using the formula in LifeCycle 4.0 (all<0.05), and the former ones were more closer to 1. For women of fetus diagnosed with the above diseases, the positive rate calculated using localized formula was almost the same as that calculated using the formula in LifeCycle 4.0.BPD-gestational age formula should be localized based on the statistical analysis of the local population, which will help to reduce the false positive rate, and make the results more accurate and reliable in prenatal screening.
Adult
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Body Weights and Measures
;
standards
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Cephalometry
;
standards
;
statistics & numerical data
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Chorionic Gonadotropin, beta Subunit, Human
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blood
;
standards
;
Chromosomes, Human, Pair 18
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Down Syndrome
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diagnosis
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embryology
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Epidemiologic Measurements
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Female
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Fetal Development
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Gestational Age
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Head
;
embryology
;
Humans
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Mass Screening
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methods
;
standards
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statistics & numerical data
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Menstrual Cycle
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Neural Tube Defects
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diagnosis
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embryology
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Pregnancy
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Prenatal Diagnosis
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methods
;
standards
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statistics & numerical data
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Reference Values
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Trisomy
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diagnosis
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Trisomy 18 Syndrome
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alpha-Fetoproteins
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analysis
;
standards
2.Primary Adenocarcinoma with Focal Choriocarcinomatous Differentiation in the Sigmoid Colon.
Sook Kyoung OH ; Hyung Wook KIM ; Dae Hwan KANG ; Cheol Woong CHOI ; Yu Yi CHOI ; Hong Kyu LIM ; Ja Jun GOO ; Sung Yeol CHOI
The Korean Journal of Gastroenterology 2015;66(5):291-296
Primary colorectal choriocarcinoma is a rare neoplasm. Only 19 cases have been reported worldwide, most of which involved adenocarcinomas. The prognosis is usually poor, and the standard therapy for this tumor has not been established. A 61-year-old woman presented with constipation and lower abdominal discomfort. She was diagnosed with primary adenocarcinoma with focal choriocarcinomatous differentiation in the sigmoid colon and liver metastasis. Because the serum beta-human chorionic gonadotropin level was not significantly elevated, and because only focal choriocarcinomatous differentiation was diagnosed, we selected the chemotherapy regimen that is used for the treatment of metastatic colorectal adenocarcinoma. The patient survived for 13 months after the initial diagnosis. This is the first case in Korea to assess the suppressive effects of the standard chemotherapy for colorectal adenocarcinoma against coexisting colorectal choriocarcinoma and adenocarcinoma.
Adenocarcinoma/*diagnosis/drug therapy/pathology
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Antineoplastic Agents/administration & dosage
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Antineoplastic Combined Chemotherapy Protocols/therapeutic use
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CA-19-9 Antigen/analysis
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Chorionic Gonadotropin, beta Subunit, Human/blood
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Colon, Sigmoid/pathology
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Colonic Neoplasms/*diagnosis/drug therapy/pathology
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Colonoscopy
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Constipation/etiology
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Female
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Fluorouracil/therapeutic use
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Humans
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Leucovorin/therapeutic use
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Liver Neoplasms/secondary
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Middle Aged
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Organoplatinum Compounds/therapeutic use
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Prognosis
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Tomography, X-Ray Computed
3.Serum marker screening during the second trimester for prenatal diagnosis and predicting pregnancy outcome.
Lan YANG ; Li ZHAO ; Jingying JIANG ; Jun LIU ; Hehua TAO ; Jun WANG ; Jinbao WU
Journal of Southern Medical University 2015;35(7):1059-1072
OBJECTIVETo explore the clinical value of screening the serum markers during the second trimester of pregnancy in preventing congenital birth defect and predicting the pregnancy outcome.
METHODSBetween November, 2011 and October, 2013, a total of 25 520 pregnant women (15-20+6 gestational weeks) underwent a screening test of triple serum markers including free beta-human chorionic gonadotrophin (free βhCG), alpha-fetoprotein (AFP), and unconjugated estriol (µE3) during the second semester of pregnancy. The women identified by the screening test as having high risks were referred to invasive prenatal diagnosis by amniocentesis, or to color Doppler ultrasound examination for suspected patent neural tube defect (NTD), and their pregnancy outcomes were followed up.
RESULTSHigh-risk pregnancies were identified by the screening test in 4.91% (1254/25520) of the total cohort. Of the 818 patients receiving invasive prenatal diagnosis, the abnormal rate was 5.75% (47/818). The high-risk pregnancies identified by the screening test was associated with a significantly higher rate of abnormal outcomes compared with the low-risk pregnancies (1.91% vs 0.1%, P<0.01). Of the 210 high-risk cases of NTD, a definite diagnosis was established in 34 cases. We also found that pregnancies at an advanced age (>35 years) was associated with increased risks for trisomy 21 compared with those at younger ages (15% vs 1.65%P<0.01). The detection rate of abnormal karyotypes in pregnancies with an abnormal MoM value of a single marker was 3.17% (6/189).
CONCLUSIONScreening tests of serum markers during the second trimester of pregnancy can be helpful to identify fetal chromosomal and anatomical anomalies, predict unfavorable pregnancy outcomes, and prevent birth defects in pregnancies at an advanced age. The MoM value of a single marker in the second trimester can be indicative of potential chromosomal abnormalities.
Biomarkers ; blood ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Aberrations ; Down Syndrome ; diagnosis ; Estriol ; blood ; Female ; Humans ; Neural Tube Defects ; diagnosis ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second ; blood ; Prenatal Diagnosis ; alpha-Fetoproteins ; analysis
4.Value of serum beta-human chorionic gonadotropin on day 9 and 11 after embryo transfer in predicting pregnancy outcomes.
Cairong CHEN ; Song QUAN ; Qiuxiang WANG ; Yanhong LI ; Peichang QIU ; Xiaoying ZHAO ; Linrong ZHOU ; Haiyan GUO
Journal of Southern Medical University 2015;35(7):1050-1054
OBJECTIVETo investigate the value of serum beta-human chorionic gonadotropin (β-HCG) on days 9 (d9) and 11 (d11) after fresh embryo transfer (ET) and frozen-thawed embryo transfer (FET) in predicting the pregnancy outcomes.
METHODSA total of 227 fresh ET and FET cycles performed at the Center of Reproductive Medicine, Qingyuan People's Hospital between Dec, 2012 and Feb, 2014 were analyzed. The data of serum β-HCG levels on d9 and d11 after fresh ET and FET cycles and the pregnancy outcomes were reviewed, and the ROC curve was constructed to determine the optimal cut-off level of serum β-HCG level for predicting pregnancy outcomes.
RESULTSAccording to pregnancy outcomes, the cycles were divided into non-pregnancy group (group A), biochemical pregnancy group (group B), and clinical pregnancy group (group C). Significant differences were found between the mean serum β-HCG levels measured on d9 and d11 in all the 3 groups (P<0.01). The cycles in group C were further divided into 5 subgroups with single pregnancy (C1), twin pregnancy (C2), early abortion (C3), ectopic pregnancy (C4), or intrauterine pregnancy complicated with ectopic pregnancy group (C5), and all the 5 subgroups showed significant differences in β-HCG measurements between d9 and d11 (P<0.01). On d9 after ET and FET, the optimal cut-off level of serum β-HCG was 49.05 IU/L for predicting for clinical pregnancy, and was 105.15 IU/L for predicting twin pregnancy; the two corresponding cut-off levels of serum β-HCG on d11 was 51.2 IU/L and 241.75 IU/L, respectively.
CONCLUSIONThe absolute serum β-HCG level on d9 and d11 after fresh ET and FET allows an accurate diagnosis of pregnancy and helps in the prediction of the pregnancy outcomes.
Chorionic Gonadotropin, beta Subunit, Human ; blood ; Embryo Transfer ; Female ; Fertilization in Vitro ; Humans ; Pregnancy ; Pregnancy Outcome ; ROC Curve ; Retrospective Studies
5.Combined first trimester screen or noninvasive prenatal testing or both.
Singapore medical journal 2015;56(1):1-3
Chorionic Gonadotropin, beta Subunit, Human
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blood
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Cost-Benefit Analysis
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Down Syndrome
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blood
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diagnosis
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False Positive Reactions
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Female
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Health Care Costs
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Humans
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Maternal Serum Screening Tests
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economics
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methods
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standards
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Pregnancy
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Pregnancy Trimester, First
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blood
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Pregnancy-Associated Plasma Protein-A
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metabolism
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Prenatal Care
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methods
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Prenatal Diagnosis
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economics
;
methods
;
standards
6.Misdiagnosis and delayed diagnosis for ectopic and heterotopic pregnancies after in vitro fertilization and embryo transfer.
Lin-lin WANG ; Xin CHEN ; De-sheng YE ; Yu-dong LIU ; Yu-xia HE ; Wei GUO ; Shi-ling CHEN
Journal of Huazhong University of Science and Technology (Medical Sciences) 2014;34(1):103-107
This study examined the misdiagnosis and delayed diagnosis factors for ectopic pregnancy (EP) and heterotopic pregnancy (HP) after in vitro fertilization and embryo transfer (IVF-ET) in an attempt to reduce the diagnostic error. Clinical data of patients who underwent IVF-ET treatment and had clinical pregnancy from 12463 cycles were retrospectively analyzed. Their findings of serum β-hCG test and transvaginal ultrasonography were also obtained during follow-up. These patients were divided into two groups according to the diagnosis accuracy of EP/HP: early diagnosis and misdiagnosis/delayed diagnosis. The results showed that the incidence of EP and HP was 3.8% (125/3286) and 0.8% (27/3286) respectively for IVF/ICSI-ET cycle, and 3.8% (55/1431) and 0.7% (10/1431) respectively for frozen- thawed embryo transfer (FET) cycle. Ruptured EP occurred in 28 patients due to initial misdiagnosis or delayed diagnosis. Related factors fell in 3 categories: (1) clinician factors: misunderstanding of patients' medical history, insufficient training in ultrasonography and unawareness of EP and HP; (2) patient factors: noncompliance with medical orders and lack of communication with clinicians; (3) complicated conditions of EP: atypical symptoms, delayed elevation of serum β-hCG level, early rupture of cornual EP, asymptomatic in early gestation and pregnancy of unknown location. All the factors were interwoven, contributing to the occurrence of EP and HP. It was concluded that complicated conditions are more likely to affect the diagnosis accuracy of EP/HP after IVF-ET. Transvaginal ultrasonography should be performed at 5 weeks of gestation. Intensive follow-up including repeated ultrasonography and serial serum β-hCG tests should be performed in patients with a suspicious diagnosis at admission.
Adult
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Chorionic Gonadotropin, beta Subunit, Human
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blood
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Delayed Diagnosis
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statistics & numerical data
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Diagnostic Errors
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statistics & numerical data
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Embryo Transfer
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Female
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Fertilization in Vitro
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Follow-Up Studies
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Humans
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Pregnancy
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Pregnancy, Ectopic
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diagnosis
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Pregnancy, Heterotopic
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diagnosis
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Retrospective Studies
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Time Factors
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Ultrasonography
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methods
7.Carbohydrate antigens as potential biomarkers for the malignancy in patients with idiopathic deep venous thrombosis: a retrospective cohort study.
Miao YU ; Yun-Hong WANG ; Ahmed M E ABDALLA ; Wen-Qi LIU ; Fei MEI ; Jian WANG ; Chen-Xi OUYANG ; Yi-Qing LI
Journal of Huazhong University of Science and Technology (Medical Sciences) 2014;34(5):722-728
A variety of biomarkers have been identified in recent prospective and retrospective reports as being potentially predictive of venous thromboembolis (VTE), particularly idiopathic deep venous thrombosis (IDVT). This study identified a serum tumor biomarker for early screening of IDVT. A total of 128 IDVT patients (54 females and 74 males; average age: 50.9±17.4 years) were included. Carcinoembryonic antigen (CEA), ferritin, β2-microglobulin, cancer antigen (CA) 125, CA 15-3, CA 19-9, squamous cell carcinoma antigen (SCC), alpha-fetoprotein (AFP), prostate specific antigen (PSA), free PSA (f-PSA), and beta-human chorionic gonadotropin (β-HCG) in patients with IDVT were detected. Malignancies were histo- or cytopathologically confirmed. Of the 128 IDVT patients, 16 (12.5%) were found to have malignancies. Serum CEA, CA 125, CA 15-3, and CA 19-9 were found to be helpful for detecting malignancies in IDVT patients. Our study revealed a positive association between these markers and tumors in IDVT patients. On the other hand, SCC and AFP were not sensitive enough to be markers for detecting tumors in patients with IDVT. No significant differences were found in positive rates of ferritin and β2-microglobulin between tumor and non-tumor groups, and no significant difference exists in serum levels of ferritin and β2-microglobulin between the two groups. Carbohydrate antigens, CA 15-3 in particular, may be useful for differential diagnosis and prediction of malignancies in patients with IDVT.
Adolescent
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Adult
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Aged
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Aged, 80 and over
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Antigens, Neoplasm
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blood
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Antigens, Tumor-Associated, Carbohydrate
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blood
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Biomarkers, Tumor
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blood
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CA-125 Antigen
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blood
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CA-19-9 Antigen
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blood
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Carcinoembryonic Antigen
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blood
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Chorionic Gonadotropin, beta Subunit, Human
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Female
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Humans
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Male
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Middle Aged
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Mucin-1
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blood
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Neoplasms
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blood
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complications
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diagnosis
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Prostate-Specific Antigen
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blood
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Retrospective Studies
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Sensitivity and Specificity
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Serpins
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blood
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Venous Thrombosis
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blood
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complications
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Young Adult
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alpha-Fetoproteins
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metabolism
8.Results of prenatal screening for fetal chromosome abnormality during the first trimester pregnancy in Guangzhou.
Zunpeng XU ; Bei LI ; Can LIAO ; Qian SUN ; Xue BAI ; Dongzhi LI
Chinese Journal of Medical Genetics 2014;31(5):632-635
OBJECTIVETo evaluate the efficiency of first trimester prenatal screening for fetal chromosome abnormality using maternal serum marker test and(or) plus nuchal translucency (NT) in Guangzhou region.
METHODSThe results of prenatal screening were retrospectively analyzed among 43 703 women with singleton pregnancies from January 2007 to September 2012. A total of 43 703 pregnancies between 9 and 13(+6) weeks of pregnancy were collected and analyzed for maternal serum pregnancy-associated plasma protein A (PAPPA), free β -human chorionic gonadotropin (free β -hCG) with or without crown-rump length (CRL). Nuchal translucency was measured by ultrasonographic scan between 11 and 13(+6) weeks of pregnancy. Gestational age was estimated by ultrasonographic scan. The risk values of Down syndrome (DS) and trisomy 18 were calculated using the software Lifcycle. Comparing the difference between the combined screening (PAPPA, free β -hCG and NT) and serum marker screening (PAPPA and free β -hCG).
RESULTSAmong the 43 703 pregnant women, screening showed that 1385 (3.17%) were Down syndrome positive and 55 (0.13%) were trisomy 18 positive. The final outcomes of pregnancy showed that 142 cases presented chromosomal abnormalities, of which 54 cases suffered from Down syndrome, 13 had trisomy 18, and 75 had other chromosome abnormalities. The total detection rate of Down syndrome and trisomy 18 were 83.33% and 76.92%, respectively.The positive rate is lower, and the detection rate is higher in combined screening group than serum marker screening group. The median PAPPA MoM was lower and the median free β -hCG MoM and NT measured value was higher in Down syndrome pregnancies than control group. The median PAPPA and free β -hCG MoM were lower and the median NT measured value was higher in trisomy 18 pregnancies than control group.
CONCLUSIONThe first trimester prenatal screening can effectively detect Down syndrome and trisomy 18 pregnancy. The combined screening method is superior to the serum marker screening and is the preferred strategy in the first trimester prenatal screening.
Adolescent ; Adult ; Asian Continental Ancestry Group ; genetics ; Biomarkers ; blood ; China ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Down Syndrome ; diagnosis ; genetics ; Female ; Fetal Diseases ; diagnosis ; ethnology ; genetics ; Genetic Testing ; methods ; Humans ; Middle Aged ; Nuchal Translucency Measurement ; Pregnancy ; Pregnancy Trimester, First ; Pregnancy-Associated Plasma Protein-A ; metabolism ; Prenatal Diagnosis ; methods ; Reproducibility of Results ; Sensitivity and Specificity ; Trisomy ; diagnosis ; genetics ; Trisomy 18 Syndrome ; Young Adult
9.Changes of AFP and beta-hCG in testicular tumors analyzed by a function method.
Xiao-Feng GUAN ; Yao-Liang DENG ; Qi-Ming LIU ; De-Xiong ZHOU ; Yu-Kai YANG ; Kun LU ; Fei LI
National Journal of Andrology 2013;19(1):59-62
OBJECTIVETo establish a new function method for the analysis of a-fetoprotein (AFP) and beta-hCG in testicular tumors.
METHODSWe reexamined the serum levels of AFP and beta-hCG after radical orchiectomy, and calculated the measured coordinate, with the abscissa representing the number of the half-lives of tumor markers, and the ordinate representing the measured value of tumor markers. Referring to the measured value of tumor markers before surgery as a, the number of half-lives as x, and their theoretical value over a period of x elimination half-lives as y (logarithm to the base 2 of y), we calculated the predicted coordinate according to the formula y = log2(a/2x) ==> x + y = log2a (function 1). Then we assessed tumor residue and metastasis by analyzing the relationship between the measured and predicted coordinates.
RESULTSThe pathological examination of case 1 revealed a germ cell tumor of a mixed histological pattern of syncytiotrophoblast and yolk sac tumor. The measured coordinates of AFP and beta-hCG were (2.22, 6.21) and (10, 8.38), and the predicted coordinates (2.22, 6.34) and (10, 4.41) , indicating the elimination of the yolk sac tumor and metastasis of the syncytiotrophoblast tumor. Case 2 demonstrated the mixed pathological nature of teratocarcinoma and yolk sac tumor. The measured coordinates of AFP and beta-hCG were (2.67, -1.03) and (12, -3.32), and the predicted coordinates (2.67, 1.41) and (12, -5.80). But the review times of AFP and beta-hCG were out of the effective range of half-lives, with the measured values below the normal, which suggested no tumor residue or metastasis. Case 3 was found to be embryonal carcinoma. The measured coordinate of AFP was (0.22, 9.25) , and the predicted coordinate (0.22, 9.55) , indicating the elimination of tumor.
CONCLUSIONThe change of the tumor markers predicted by the function method coincided with the natural course of disease in the three cases. The coincidence of the measured with the predicted coordinate after radical orchiectomy indicates no metastasis, while their disagreement suggests possible residue and metastasis of the tumor.
Adult ; Biomarkers, Tumor ; blood ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Humans ; Male ; Models, Statistical ; Orchiectomy ; Testicular Neoplasms ; metabolism ; pathology ; alpha-Fetoproteins ; analysis
10.Establishment of median values for second trimester maternal serum biomarkers in Weihai region.
Xin-qiang LAN ; Shu-hui WANG ; Yu-zhi DENG
Chinese Journal of Medical Genetics 2012;29(6):693-696
OBJECTIVETo establish the median values for second trimester biomarkers in Weihai region, and to assess its value for improving the performance and efficiency of prenatal screening.
METHODSMaternal serum alpha-fetoprotein (AFP) and free beta human chorionic gonadotropin (Free beta-hCG) were determined for 24 400 pregnant women at 105 to 146 gestational days. A regression equation was derived after adjusting for different gestational ages. The median values were further adjusted with body weight.
RESULTSThe median values of AFP and Free beta-hCG were respectively 6% and 24% higher than those embedded in a 2T software. After adjusting with gestational age and weight, there is a significant difference in multiple of the median (MoM) of serum biomarkers between local population and that embedded in the 2T model.
CONCLUSIONTo establish the median values for different gestational ages for local region may help to improve the efficiency of prenatal screening.
Adult ; Biomarkers ; blood ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Female ; Humans ; Pregnancy ; Pregnancy Outcome ; Pregnancy Trimester, Second ; blood ; Reference Values ; Young Adult

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