1.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
;
Cost-Benefit Analysis
;
Down Syndrome
;
blood
;
diagnosis
;
False Positive Reactions
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Female
;
Health Care Costs
;
Humans
;
Maternal Serum Screening Tests
;
economics
;
methods
;
standards
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Pregnancy
;
Pregnancy Trimester, First
;
blood
;
Pregnancy-Associated Plasma Protein-A
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metabolism
;
Prenatal Care
;
methods
;
Prenatal Diagnosis
;
economics
;
methods
;
standards
2.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
;
Adult
;
Aged
;
Aged, 80 and over
;
Antigens, Neoplasm
;
blood
;
Antigens, Tumor-Associated, Carbohydrate
;
blood
;
Biomarkers, Tumor
;
blood
;
CA-125 Antigen
;
blood
;
CA-19-9 Antigen
;
blood
;
Carcinoembryonic Antigen
;
blood
;
Chorionic Gonadotropin, beta Subunit, Human
;
Female
;
Humans
;
Male
;
Middle Aged
;
Mucin-1
;
blood
;
Neoplasms
;
blood
;
complications
;
diagnosis
;
Prostate-Specific Antigen
;
blood
;
Retrospective Studies
;
Sensitivity and Specificity
;
Serpins
;
blood
;
Venous Thrombosis
;
blood
;
complications
;
Young Adult
;
alpha-Fetoproteins
;
metabolism
3.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
4.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
5.Evaluation of Down's syndrome screening methods using maternal serum biochemistry in the second trimester pregnancy.
Dong-yi YU ; Ping FU ; Zhan-hong ZHANG ; Fang WANG ; Mei-yan HAN ; Hui-ying REN ; Wei ZHAO ; Kai ZHANG ; Shuo LI ; Nan JIANG
Chinese Journal of Medical Genetics 2011;28(3):332-335
OBJECTIVETo provide basis for selecting the suitable method of Down's syndrome biochemical screening in the second trimester pregnancy.
METHODSA total of 30 547 singleton pregnancies between 14 and 20(+ 6) weeks of pregnancy were collected and analyzed for maternal serum alpha-fetoproteins (AFP) and human chorionic gonadotrophin, free beta subunit (beta-HCG) with or without unconjugated estriol (uE3). The screening risks were calculated using the software Lifecycle. The detection rates and the cost of per Down's syndrome detected were calculated and compared. And four different methods were compared in a series of 64 serum samples from Down's syndrome pregnancies.
RESULTS(1) Among the 64 affected cases, the detection rate of Down's syndrome was improved no matter in the double test (DT) or in the triple test (TT) if software Lifecycle (LC) was used to evaluate risks. And it was not suitable to evaluate risks with software 2T-Risks in the triple tests. (2) In the cohort of 30 547 singleton pregnancies, the detection rate of Down's syndrome with project DT-LC, which was double test using AFP and free beta-HCG together with software Lifecycle, and project TT-LC, which was triple test using AFP, free beta-HCG and uE3 together with software Lifecycle, was 56.25% and 57.14%, respectively. The former project was better because it decreased the false positive rate at a lower running cost.
CONCLUSIONThe DT-LC is an effective screening strategy for second trimester detection of fetal Down's syndrome in mainland China.
Adult ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Down Syndrome ; blood ; diagnosis ; Estriol ; blood ; Female ; Genetic Testing ; methods ; Humans ; Pregnancy ; Pregnancy Trimester, Second ; blood ; Prenatal Diagnosis ; economics ; methods ; Young Adult ; alpha-Fetoproteins ; metabolism
6.A study on population-based prenatal screening and diagnosis of Down's syndrome in Jiangsu province.
Qi-lan LIU ; Ya-li HU ; Zhen-feng XU ; Li-juan WANG ; Qing SUN ; Ning LIN ; Xiao-yan XU ; Yan LIU ; Jian-wei ZHANG ; Jian-sun TONG ; Xing-hai WANG ; Jing HE
Chinese Journal of Medical Genetics 2010;27(3):340-342
OBJECTIVETo screen and diagnose Down's syndrome during mid-term pregnancy to reduce the number of babies with Down's syndrome.
METHODSWith the multi-level of stratified cluster sampling, twenty thousand and eight hundred and three women at 15-20 weeks gestation were screened by maternal serum AFP and beta-hCG using the time resolved fluoroimmunoassay (TRFIA). Then the screened high-risk women were diagnosed by amniocentesis, cell culture and chromosome analyses. The born children were diagnosed by follow-up and peripheral blood chromosome analyses.
RESULTSSix fetuses were diagnosed by serum screening and amniotic fluid chromosome analyses, and 3 born children were diagnosed by follow-up and peripheral blood chromosome analyses. Nine cases of Down's syndrome were detected in total, with the positive prenatal screen rate being 67% (6/9).
CONCLUSIONThe prenatal screening and diagnosis can reduce the birth of Down's syndrome patients and improve the population quality. However, the diagnosis accuracy still needs to be improved to further reduce the false negative rate and prevent misdiagnosis.
Adult ; Chorionic Gonadotropin, beta Subunit, Human ; blood ; Chromosome Aberrations ; Down Syndrome ; blood ; diagnosis ; genetics ; metabolism ; Female ; Fluoroimmunoassay ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Young Adult ; alpha-Fetoproteins ; metabolism
7.Pineal choriocarcinoma: report of a case.
Hong-Ying CAO ; Wei-Hua WU ; Zhen XU
Chinese Journal of Pathology 2010;39(11):774-775
Antibodies, Monoclonal, Murine-Derived
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metabolism
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Brain Neoplasms
;
metabolism
;
pathology
;
Child
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Choriocarcinoma
;
metabolism
;
pathology
;
Chorionic Gonadotropin, beta Subunit, Human
;
metabolism
;
Diagnosis, Differential
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Humans
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Male
;
Neoplasms, Germ Cell and Embryonal
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metabolism
;
pathology
;
Pineal Gland
;
pathology
9.Pure Choriocarcinoma of Testis with Tumor-Infiltrating Lymphocytes and Granulomas.
Yonsei Medical Journal 2006;47(6):887-891
Pure choriocarcinoma is very rare in the testes, and host immune responses including tumor infiltrating lymphocytes are unusual in choriocarcinoma. This study reports a case of pure testicular choriocarcinoma with extensive lymphocytic infiltrate and granulomatous inflammation. Scrotal ultrasonography revealed a heterogeneous, hyperechoic intratesticular mass. -human chorionic gonadotropin levels were elevated in a radioimmunoassay. The hemorrhagic and necrotic solid mass was composed of two cell populations - mononuclear pleomorphic cells and intimately admixed multinucleated smudged cells. The tumor cells were positive for cytokeratin 7, epidermal growth factor receptors, human placental lactogen and p57. Many inflammatory cells were present within the tumor. The majority of infiltrating cells were CD8-positive cytotoxic cells, which also expressed granzyme-B and TIA-1. The tumor cells were positive for FasL, but negative for Fas. Therefore, this case seemed to escape the host defense response to the tumor due to the loss of Fas, although the cellular host immune response was still active.
Tumor Markers, Biological/analysis
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Testicular Neoplasms/*pathology/ultrasonography
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Male
;
Lymphocytes, Tumor-Infiltrating/*pathology
;
Humans
;
Granuloma/*pathology/ultrasonography
;
Chorionic Gonadotropin, beta Subunit, Human/metabolism
;
Choriocarcinoma/*pathology/ultrasonography
;
Adult
10.Pure Choriocarcinoma of Testis with Tumor-Infiltrating Lymphocytes and Granulomas.
Yonsei Medical Journal 2006;47(6):887-891
Pure choriocarcinoma is very rare in the testes, and host immune responses including tumor infiltrating lymphocytes are unusual in choriocarcinoma. This study reports a case of pure testicular choriocarcinoma with extensive lymphocytic infiltrate and granulomatous inflammation. Scrotal ultrasonography revealed a heterogeneous, hyperechoic intratesticular mass. -human chorionic gonadotropin levels were elevated in a radioimmunoassay. The hemorrhagic and necrotic solid mass was composed of two cell populations - mononuclear pleomorphic cells and intimately admixed multinucleated smudged cells. The tumor cells were positive for cytokeratin 7, epidermal growth factor receptors, human placental lactogen and p57. Many inflammatory cells were present within the tumor. The majority of infiltrating cells were CD8-positive cytotoxic cells, which also expressed granzyme-B and TIA-1. The tumor cells were positive for FasL, but negative for Fas. Therefore, this case seemed to escape the host defense response to the tumor due to the loss of Fas, although the cellular host immune response was still active.
Tumor Markers, Biological/analysis
;
Testicular Neoplasms/*pathology/ultrasonography
;
Male
;
Lymphocytes, Tumor-Infiltrating/*pathology
;
Humans
;
Granuloma/*pathology/ultrasonography
;
Chorionic Gonadotropin, beta Subunit, Human/metabolism
;
Choriocarcinoma/*pathology/ultrasonography
;
Adult

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