Objective To investigate clinical value of single nucleotide polymorphism array (SNParray) gene chip technique in diagnosis of genetics of recurrent spontaneous abortion (RSA).Methods From January to October 2012,the 26 patients with more than twice of spontaneous abortion in Huzhou Maternal and Child Health Care Hospital were enrolled in this study(RSA group).Meanwhile 20 cases with induced abortion were taken as control group.All aborted tissues were analyzed with conventional cytogenetic karyotyping and SNP-array,respectively.Results Chorionic villus chromosomal examination was successfully done in 19 cases (73％,19/26),which 10 cases were found with chromosomal anomaly,the overall detection rate is 10/19.However,SNP-array analysis was successfully performed in all 26 cases.The overall rate of detection was 100％,and abnormalities were found in 15 cases,which reached the detection rate was 58％ (15/26).Chorionic villus chromosomal examination was successfully done in 16 cases (16/20) in control group,and none of the resluts was chomosomal anomaly; SNP-array analysis was successfully performed in all 20 cases (20/20),and none was found abnormalities.Conclusion SNP-array gene chip technique showed highly accurate feature,which could be used in cytogenetic diagnosis of recurrent spontaneous abortion.

Objective To investigate hemoglobin by capillary zone electrophoresis in α-thalassemia screening application.Methods Blood specimens collected from 1000 early pregnancy women were analyzed by fluorescent PCR technique for αt-thalassemia genetic diagnosis.The samples were divided into thalassemia group and normal group according to the risk of having α-thalassemia related genes.Then compare hemoglobin ingredients difference between two groups.Results In thalassemia group,the mean and standard deviation of HbA2 respectively was 1.96 and 0.386,while HbF respectively was 0.01 and 0.098.In control,the mean and standard deviation of HbA2 respectively was 2.79 and 0.418,while HbF respectively was 0.01 and 0.105.There was significant difference on value of HbA2 among different groups (P ＜ 0.05),but there was no significant difference on value of HbF.If the cut-off value of HbA2 was less than 2.2 in α-thalassemia screening,the detection rate of carrying α-thalassemia gene was 9/16,and false negative rate was7/16.If the cut-off value of HbA2 was less than 2.4,the detection rate of carrying α-thalassemia gene was 10/16,and false negative rate was 6/16.Conclusion The screening efficiency of α-thalassemia is less than β-thalassemia by capillary electrophoresis.But choosing a reasonable cut-off value and combination with other indicators are still clinically acceptable screening program.

OBJECTIVETo screen for genomic copy number variants (CNVs) in a fetus with one sibling affected with Prader-Willi syndrome using single nucleotide polymorphism (SNP) array.

METHODSThe fetus and its parents were subjected to chromosomal karyotyping and SNP array analysis.

RESULTSA 5p15.33 microdeletions was identified in the fetus and its phenotypically normal mother with a size of 344 kb (113 576 to 457 213). The father was normal for both testing. Analysis of literature and CNVs database indicated the above CNV to be variant of unclear significance. The couple decided to continue with the pregnancy and gave birth to a healthy boy at full-term. No abnormalities were found during the follow-up.

CONCLUSIONThis study may provide further data for the phenotype-genotype correlation of 5p15.33 microdeletion, which differs from Cri du Chat syndrome.

Adult ; Chromosome Deletion ; Chromosomes, Human, Pair 5 ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Male ; Prader-Willi Syndrome ; diagnosis ; embryology ; genetics ; Pregnancy ; Prenatal Diagnosis

PURPOSE: Uridine-cytidine kinase (UCK) 2 is a rate-limiting enzyme involved in the salvage pathway of pyrimidine-nucleotide biosynthesis. Recent studies have shown that UCK2 is overexpressed in many types of cancer and may play a crucial role in activating antitumor prodrugs in human cancer cells. In the current study, we evaluated the potential prognostic value of UCK2 in breast cancer. METHODS: We searched public databases to explore associations between UCK2 gene expression and clinical parameters in patients with breast cancer. Gene set enrichment analysis (GSEA) was performed to identify biological pathways associated with UCK2 gene expression levels. Survival analyses were performed using 10 independent large-scale breast cancer microarray datasets. RESULTS: We found that UCK2 mRNA expression was elevated in breast cancer tissue compared with adjacent nontumorous tissue or breast tissue from healthy controls. High UCK2 levels were correlated with estrogen receptor negativity (p<0.001), advanced tumor grade (p<0.001), and poor tumor differentiation (p<0.001). GSEA revealed that UCK2-high breast cancers were enriched for gene sets associated with metastasis, progenitor-like phenotypes, and poor prognosis. Multivariable Cox proportional hazards regression analyses of microarray datasets verified that high UCK2 gene expression was associated with poor overall survival in a dose-response manner. The prognostic power of UCK2 was superior to that of TNM staging and comparable to that of multiple gene signatures. CONCLUSION: These findings suggest that UCK2 may be a promising prognostic biomarker for patients with breast cancer.
Biomarkers ; Breast Neoplasms* ; Breast* ; Dataset ; Estrogens ; Gene Expression ; Humans ; Neoplasm Metastasis ; Neoplasm Staging ; Phenotype ; Prodrugs ; Prognosis* ; RNA, Messenger ; Uridine Kinase*

OBJECTIVETo screen for genomic copy number variants (CNVs) in a fetus with cardiac abnormalities and intrauterine growth retardation through single nucleotide polymorphism microarray (SNP array) and karyotyping analysis.

METHODSThe fetus and its parents were subjected to conventional G banding and SNP-array analysis. The results were confirmed with fluorescence in situ hybridization (FISH).

RESULTSG-banding analysis showed that the fetus has a karyotype of 47,XX,+mar. The father has a karyotype of 46,XY,t(4;18) (p15.2q11.2), while the mother showed a normal karyotype. SNP-array detected two microduplications at 18p11.32q11.2 (20.5 Mb) and 4p16.3p15.2 (24.7 Mb) in the fetus. The supernumerary marker chromosome carried by the fetus has derived from the balanced translocation carried by its father. The result was confirmed by FISH.

CONCLUSIONBased on the two microduplications, the fetus was diagnosed as Wolf-Hirschhorn syndrome in conjunction with Edward syndrome. Verification of the origin of the supernumerary marker chromosome by SNP-array has provided a basis for prenatal genetic diagnosis.

Chromosome Banding ; Female ; Genetic Testing ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Polymorphism, Single Nucleotide ; Pregnancy ; Prenatal Diagnosis ; Trisomy 18 Syndrome ; genetics ; Wolf-Hirschhorn Syndrome ; genetics

Objective To explore the value of prenatal MRI in the diagnosis of fetal simple expansion of lateral ventricle(ventriculomegaly), and follow up the nervous system development status after birth. Methods Simple expansion of the lateral ventricle fetus by prenatal MRI examination were collected in Huzhou Maternal and Child Care Hospital from May 2013 to June 2015, 126 cases of live births in expansion group, 50 normal cases were recruited in the same period as the control group. In expansion group, fetal subgroup analysis was done:(1) unilateral or bilateral lateral ventricle expasion:one group was 98 cases was lateral ventricle expansion (77.8%, 98/126), expansion of bilateral ventricle group was 28 cases (22.2%, 28/126). (2) Prenatal MRI in the diagnosis of the lateral ventricle of expansion: expansion of the lateral ventricle width was greater than 10.0 mm, if both sides were expanding, the expand width was the heavier one side, divided into 3 subgroups: ①Expansion in group A (lateral ventricle width 10.0-12.0 mm) were 88 cases (69.8%, 88/126).②Expansion in group B (lateral ventricle width 12.1-15.0 mm) were 29 cases (23.0%, 29/126). ③Expansion of group C (lateral ventricle width> 15.0 mm) were 9 cases (7.12%, 9/126). All 176 cases were followed up after birth at the 3rd, 6th, 12th, 18th month (corrected age was used for premature babies), and Gesell developmental schedules (GDS) were used to evaluate the neurobehavioral development. Results (1) The MRI results after birth:21 cases were followed up by MRI after birth. In group A, 11 cases had MRI and 9 were normal (the ventricular width<10.0 mm after birth) , the other 2 cases were stable (the ventricular width measured first time after birth was ≥10.0 mm, but the difference was within 2.0 mm from the MRI before birth). In group B, 4 cases had MRI, 1 was normal, 1 was stable, and 2 cases were getting better (the ventricular width measured first time after birth was ≥10.0 mm, but the width decreased more than 2.0 mm from the MRI before birth). In group C, 6 cases had MRI. 3 cases were getting better and 3 cases were stable. (2) Overall GDS results:expansion group after the birth of the 3rd, 6th, 12th, 18th month GDS evaluation results compared with control group, respectively, the differences were not statistically significant (all P>0.05). (3) The GDS results among the subgroups:in each evaluation after birth, there were no statistically significant differences between group A and the control group (all P>0.05). The GDS results of group B at the 3rd and 6th month were lower than those of the control group (P<0.05); while there were no statistically significant differences between the 2 goups at the 12th and 18th month (P>0.05). And for group C, statistically significant differences were found compared to the control group at each follow-up time (all P<0.05). (4) GDS results at different times after birth in the expansion group:there was no statistically significant difference between the results at the 3rd and 6th month (P>0.05). But when the result at the 3rd month was compared to the results of the 12th or 18th month, the differences were statistically significant (P<0.05). GDS result of 6th months after birth compared with 12th and 18th months, respectively, there were no statistically significant differences (P>0.05). There was no statistically significant difference between the results at the 12th and 18th month (P>0.05). (5) The GDS results in unilateral and bilateral ventricle expansion:at the 18th month, among the 98 unilateral cases, 86 (87.8%, 86/98) had normal GDS results(>85 scores);8 (8.2%, 8/98) had borderline results (75-85 scores);4 (4.1%, 4/98) had delayed results (<75 scores). Among the 28 bilateral cases, 23 (82.1%, 23/28) had normal GDS results;3 (10.7%, 3/28) had borderline results; 2 (7.1%, 2/28) had delayed results. There was no statistically significant difference (P>0.05). Conclusions Among the simple expansion of lateral ventricle, those whose ventricular width are≤12.0 mm may not need clinical treatment. If the width is between 12.1 to 15.0 mm, closely follow-up and targeted rehabilitation training after birth are recommended. When the width is more than 15.0 mm, the risk of the central nervous system function delay is significantly increased, and early intervention might improve the prognosis.

Objective To explore the clinical application value of chemiluminescence detection of urine asymmetric dimethylarginine ( ADMA ) in pregnancy-induced hypertension ( PIH ) . Methods Collected the 24 h urine from 60 normal pregnancy women and 72 PIH pregnancy women who were admitted to Huzhou Maternal and Child Health Hospital from May 2014 to April 2015 by the case-control study , Determination of urine ADMA content by chemiluminescence ( CLIA ) and high performance liquid chromatography ( HPLC ) , the results between two assays were analyzed by the Rank sum test , receiver operating characteristic ( ROC) curve and pearson correlation analysis .Results Compared with the normal control group , the urine ADMA concentration in the PIH group was significantly increased by HPLC and CLIA, and the concentration of ADMA by CLIA in the PIH group was 68.18(57.25,81.55)μmol/L higher than that of the normal control group 30.11(22.69,42.97)μmol/L(Z=-8.139,P<0.001),and the concentration of ADMA by HPLC in the PIH group by HPLC was 71.11(57.65,82.89)μmol/L higher than that of the normal control group 28.11(21.06,42.99)μmol/L(Z=-8.356,P<0.001).The difference was statistically significant .The two methods of urine ADMA concentration were highly positively correlated with PIH blood pressure.The correlation coefficient r values were 0.746 and 0.763, respectively, the P values were 0.007 and 0.008 respectively.Conclusions CLIA can better detect the ADMA concentration in urine of pregnant women with PIH , and has a good clinical diagnosis ability .The ADMA concentration in urine is related to the blood pressure level of PIH .

Objective To investigate the gene carried condition and hematological characteristics of α-thalassemia in pregnant women in HuZhou area,and provide scientific data for prevention of birth defects with thalassemia.Methods Real-time fluorescent quantitative PCR (Real-time PCR) was applied for genetic screening and diagnosis of alpha thalassemia on 1000 cases of pregnant women.Positive samples were verified by traditional gene diagnosis of α-thalassemia,meanwhile using hemoglobin electrophoresis technology to screen alpha thalassemia.Results 16 cases were detected α-thalassemia and the thus α-thalassemia carrier ratio was 1.6％.16 patients were diagnosed as deletion type of α-thalassemia,while mutantion type was not detected.These results were the same as checked by traditional gene diagnosis of α-thalassemia.All samples screening for hemoglobin by capillary zone electrophores,α-thalassaemia screening was positive in 5 cases.Conclusion The α-thalassemia gene carrying rate of pregnant women in Huzhou city was 1.6％.Using reasonable methods to screen pregnant women has positive significance on prevention of the occurrence of birth defects.