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Pesquisa : E01.370.388.100.150 [Categoria DeCS]
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  1 / 2287 MEDLINE  
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PMID:29308857
Autor:Nizyaeva NV; Sukhacheva TV; Kulikova GV; Nagovitsyna MN; Kan NE; Baev OR; Pavlovich SV; Serov RA; Shchegolev AI; Poltavtseva RA
Título:Morphological Features of Mesenhymal Stroma Cells of Chorionic Villi.
Fonte:Vestn Ross Akad Med Nauk; 72(1):76-83, 2017.
ISSN:0869-6047
País de publicação:Russia (Federation)
Idioma:eng
Resumo:Background: Nowadays autologous mesenchymal placental stromal cells (MSCs) may use to treat for various diseases both of the mother and the child. Stroma of the placenta villi is appropriated origin for cell culture isolation. Aim: of the study was to evaluate the possibility for selection and use of placental tissue for mesenchymal stromal cells. Materials and methods: The present study was based on 45 placental samples of women aged 27−38 yy. who underwent surgical delivery at 36−40 weeks of gestation. 30 of these women have been enrolled in the basic group including children with congenital abnormalities (CA). The comparison group consisted of 15 patients with physiological pregnancy. We performed histological examination (with hematoxylin and eosin staining), immunohistochemical examination (with use monoclonal antibodies CD90 (1:25; Abcam, UK), СD105 (1:500; Abcam, UK), CD44 (1:25; Dako), СD73 (1:200, Abcam, UK), and electron microscopy (by microscope Philips/FEI Corporation, Eindhoven, Holland). Eclipse 80i microscope (Nikon Corporation, Japan) was used to examine the immunohistochemical reactions as a brown staining. The evaluation of the intensity of reaction was conducted by NIS-Elements Advanced Research 3.2 program (Czech Republic). Student's t-test and analysis of variance were used to compare the mean values. Differences were considered statistically significant at p<0.05. Results: Interstitial cells of the stroma of the villi with CA had fibroblastic differentiation as revealed degenerative changes of the cells. The histologic examination with hematoxylin and eosin staining revealed significant fibrosis of the stroma of the placenta villi in CA group (p<0,01). Immunohistochemical study of stem and intermediate chorionic villi revealed no significant differences in staining of CD44+, СD90+, СD73+, and CD105+ cells if compared to the control group (p>0.05). Although CD105 expression was significantly lower in the CA group (0.058±0.0049) than in the control group (0.088±0.0039) (p<0.05). However, electron microscopy detected the villi interstitial stromal cells with fibroblastic differentiation in CA group. Conclusions: Thus, it is necessary to exclude placenta with obstetrical history, somatic, and congenital pathology of the mother and the child when selecting the placental cell culture. Moreover, choosing a sample the morphological structure of the placenta should be taken into consideration. However, congenital malformations of the fetus, pathology of the mother cultivate mesenchymal stromal cells of placentas is inappropriate and should be taken advantage of the donor cells.
Tipo de publicação: JOURNAL ARTICLE


  2 / 2287 MEDLINE  
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PMID:28408374
Autor:Chui A; Gunatillake T; Brennecke SP; Ignjatovic V; Monagle PT; Whitelock JM; van Zanten DE; Eijsink J; Wang Y; Deane J; Borg AJ; Stevenson J; Erwich JJ; Said JM; Murthi P
Endereço:From the Department of Obstetrics and Gynaecology, The University of Melbourne, Parkville, Victoria, Australia (A.C., T.G., S.P.B., P.M.); Sunshine Hospital, St Albans, Victoria, Australia (A.C., T.G., S.P.B., P.M.); Department of Maternal-Fetal Medicine Pregnancy Research Centre, The Royal Women's
Título:Expression of Biglycan in First Trimester Chorionic Villous Sampling Placental Samples and Altered Function in Telomerase-Immortalized Microvascular Endothelial Cells.
Fonte:Arterioscler Thromb Vasc Biol; 37(6):1168-1179, 2017 Jun.
ISSN:1524-4636
País de publicação:United States
Idioma:eng
Resumo:OBJECTIVE: Biglycan (BGN) has reduced expression in placentae from pregnancies complicated by fetal growth restriction (FGR). We used first trimester placental samples from pregnancies with later small for gestational age (SGA) infants as a surrogate for FGR. The functional consequences of reduced BGN and the downstream targets of were determined. Furthermore, the expression of targets was validated in primary placental endothelial cells isolated from FGR or control pregnancies. APPROACH AND RESULTS: expression was determined using real-time polymerase chain reaction in placental tissues collected during chorionic villous sampling performed at 10 to 12 weeks' gestation from pregnancies that had known clinical outcomes, including SGA. Short-interference RNA reduced expression in telomerase-immortalized microvascular endothelial cells, and the effect on proliferation, angiogenesis, and thrombin generation was determined. An angiogenesis array identified downstream targets of BGN, and their expression in control and FGR primary placental endothelial cells was validated using real-time polymerase chain reaction. Reduced expression was observed in SGA placental tissues. reduction decreased network formation of telomerase-immortalized microvascular endothelial cells but did not affect thrombin generation or cellular proliferation. The array identified target genes, which were further validated: angiopoetin 4 ( ), platelet-derived growth factor receptor α ( ), tumor necrosis factor superfamily member 15 ( ), angiogenin ( ), serpin family C member 1 ( ), angiopoietin 2 ( ), and CXC motif chemokine 12 ( ) in telomerase-immortalized microvascular endothelial cells and primary placental endothelial cells obtained from control and FGR pregnancies. CONCLUSIONS: This study reports a temporal relationship between altered placental expression and subsequent development of SGA. Reduction of in vascular endothelial cells leads to disrupted network formation and alterations in the expression of genes involved in angiogenesis. Therefore, differential expression of these may contribute to aberrant angiogenesis in SGA pregnancies.
Tipo de publicação: JOURNAL ARTICLE
Nome de substância:0 (BGN protein, human); 0 (Biglycan); EC 2.7.7.49 (Telomerase); EC 3.4.21.5 (Thrombin)


  3 / 2287 MEDLINE  
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PMID:28295165
Autor:Johnson K; Kelley J; Saxton V; Walker SP; Hui L
Endereço:University of British Columbia, Vancouver, British Columbia, Canada.
Título:Declining invasive prenatal diagnostic procedures: A comparison of tertiary hospital and national data from 2012 to 2015.
Fonte:Aust N Z J Obstet Gynaecol; 57(2):152-156, 2017 Apr.
ISSN:1479-828X
País de publicação:Australia
Idioma:eng
Resumo:BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling (CVS), creating new implications for specialist training. OBJECTIVE: To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015. METHODS: Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015. Numbers of procedures, indications for testing, type of test and diagnostic results were analysed. Trends in the annual numbers of procedures were compared to national population-based data from Medicare Benefits Schedule database. RESULTS: The annual numbers of diagnostic procedures in our tertiary centre fell from 267 to 215 over the study period, representing a 19.5% decline. This was significantly smaller than the corresponding national decline of 53.7% for the same period (P < 0.0001). In 2015, ultrasound abnormality (including nuchal translucency ≥ 3.5 mm) surpassed high-risk screening results as the most common indication for invasive testing. Thirty percent of procedures performed for an ultrasound abnormality occurred prior to 18 weeks gestation. CONCLUSION: Our tertiary centre experienced a relatively smaller decline in prenatal diagnostic procedures compared with national figures, largely due to an increase in testing for ultrasound abnormalities. Our results demonstrate the increasing contribution of first trimester ultrasound in the detection of fetal abnormalities in the cell-free DNA era and the continued viability of specialist training in invasive procedures.
Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE


  4 / 2287 MEDLINE  
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PMID:28284509
Autor:Grati FR; Malvestiti F; Branca L; Agrati C; Maggi F; Simoni G
Endereço:TOMA Advanced Biomedical Assays S.p.A., Via Francesco Ferrer 25/27, 21052, Busto Arsizio, Varese, Italy. Electronic address: fgrati@tomalab.com.
Título:Chromosomal mosaicism in the fetoplacental unit.
Fonte:Best Pract Res Clin Obstet Gynaecol; 42:39-52, 2017 Jul.
ISSN:1532-1932
País de publicação:Netherlands
Idioma:eng
Resumo:Cytogenetic prenatal diagnosis on chorionic villi (CV) can be complicated by the detection of "chromosomal mosaicism." This is one of the main issues of first-trimester cytogenetic prenatal diagnosis as it can involve different types of chromosomal abnormalities, and the prediction of the fetal involvement is challenging because the detected abnormal mosaic cell line is not necessarily extended to fetal tissues. In addition, because the cell-free fetal DNA that is targeted by the new technologies for fetal aneuploidy risk assessment is mainly derived from the CV cells, the same challenges related to chromosomal mosaicism can be transferred into this new clinical field. This review illustrates the phenomenon of fetoplacental mosaicism, the management of prenatal diagnosis cases complicated by the detection of such a biological phenomenon, and the implications of its presence for the management of high-risk cfDNA testing results for fetal aneuploidies.
Tipo de publicação: JOURNAL ARTICLE; REVIEW


  5 / 2287 MEDLINE  
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PMID:28207933
Autor:Kane SC; Reidy KL; Norris F; Nisbet DL; Kornman LH; Palma-Dias R
Endereço:Pregnancy Research Centre, Department of Maternal Fetal Medicine, The Royal Women's Hospital, Parkville, VIC, Australia.
Título:Chorionic villus sampling in the cell-free DNA aneuploidy screening era: careful selection criteria can maximise the clinical utility of screening and invasive testing.
Fonte:Prenat Diagn; 37(4):399-408, 2017 Apr.
ISSN:1097-0223
País de publicação:England
Idioma:eng
Resumo:OBJECTIVES: To quantify the impact of cell-free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. METHODS: Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cfDNA screening panels. RESULTS: A total of 2051 CVS procedures, 25 373 twelve-week scans and 2394 cfDNA tests were performed. The CVS rate per 12-week scan fell from 9.8 to 3.9% following introduction of cfDNA screening. The yield of pathogenic chromosomal anomalies per CVS increased from 12.9 to 25.2%, with 70% of pathogenic results now comprising T21, up from 52%. Sixteen (5.3%) of the pathogenic chromosomal abnormalities identified on CVS would not have been predicted by current cfDNA tests. CONCLUSIONS: There is an evolving tension between improved screening performance for common aneuploidies offered by cfDNA testing, and the increasing diagnostic utility of molecular karyotyping. However, the risk of not identifying pathogenic chromosomal abnormalities is low if cfDNA screening is offered in the absence of a structural fetal anomaly, increased nuchal translucency or relevant family history. © 2017 John Wiley & Sons, Ltd.
Tipo de publicação: EVALUATION STUDIES; JOURNAL ARTICLE
Nome de substância:9007-49-2 (DNA)


  6 / 2287 MEDLINE  
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PMID:28067420
Autor:Petracchi F; Paez C; Igarzabal L
Endereço:Centro de Educación Médica en Investigaciones Clínicas (CEMIC), Instituto Universitario - Department of Obstetrics and Gynecology, Genetic Unit, Galvan 4102, Buenos Aires, Buenos Aires 1425, Argentina.
Título:Cost-effectiveness of cytogenetic evaluation of products of conception by chorionic villus sampling in recurrent miscarriage.
Fonte:Prenat Diagn; 37(3):282-288, 2017 Mar.
ISSN:1097-0223
País de publicação:England
Idioma:eng
Resumo:OBJECTIVE: To compare the cost-effectiveness of performing chorionic villus sampling (CVS) of products of conception (POC) in the evaluation of recurrent miscarriage versus standard evidence-based work-up (EBW) of the couple. MATERIAL AND METHODS: A decision-analytic model was performed in couples with a third miscarriage. Three strategies were considered: (1) the standard EBW of all the patients, comprising parental karyotype, uterine cavity assessment and antiphospholipid antibodies; (2) performing a CVS of POC and a standard karyotype, and if euploid, follow with EBW; and (3) performing a CVS of POC and an arrayCGH and, if normal, follow with EBW. Estimated cost and diagnostic yield of each strategy was analysed. Sensitivity analysis and threshold cost were considered. RESULTS: The expected cost-effectiveness of CVS and karyotype of POC in recurrent miscarriage was: $US769.79 versus $US 1361.8 for the standard EBW of the couple. When stratified by maternal age the results remained cost-effective for this strategy. The arrayCGH strategy has a higher diagnostic yield, but still expensive in our setting to be considered cost-effective. CONCLUSIONS: Chorionic villus sampling and karyotype analysis of products of conception in a third miscarriage proved a more cost-effective strategy than standard EBW of the couple. © 2017 John Wiley & Sons, Ltd.
Tipo de publicação: JOURNAL ARTICLE


  7 / 2287 MEDLINE  
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PMID:27966372
Autor:Huang LY; Yang Y; He P; Li DZ
Endereço:a Prenatal Diagnostic Center , Guangzhou Women and Children Medical Center affiliated to Guangzhou Medical University , Guangzhou , Guangdong , China.
Título:Increased first-trimester nuchal translucency associated with a dicentric chromosome and 9q34.3 microdeletion syndrome.
Fonte:J Obstet Gynaecol; 37(3):327-329, 2017 Apr.
ISSN:1364-6893
País de publicação:England
Idioma:eng
Resumo:We present prenatal diagnosis and chromosomal microarray analysis (CMA) of 9q34.3 microdeletion in a foetus with an increased nuchal translucency (NT). Conventional G-banding analysis showed a de novo translocation: 45, XX, dic (9;13)(q34;p13). CMA revealed a 3.6 Mb 9q34.3 microdeletion encompassing an OMIM gene of EHMT1 consistent with the diagnosis of Kleefstra syndrome and 9q subtelomeric deletion syndrome. We suggest an application of CMA at prenatal diagnosis in pregnancies with increased NT and an apparent balanced translocation on conventional karyotype.
Tipo de publicação: CASE REPORTS; JOURNAL ARTICLE


  8 / 2287 MEDLINE  
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PMID:27928862
Autor:Massalska D; Zimowski JG; Bijok J; Pawelec M; Czubak-Barlik M; Jakiel G; Roszkowski T
Endereço:I Department of Obstetrics and Gynecology, Professor Witold Orlowski Clinical Hospital, Centre of Postgraduate Medical Education, Warsaw, Poland.
Título:First trimester pregnancy loss: Clinical implications of genetic testing.
Fonte:J Obstet Gynaecol Res; 43(1):23-29, 2017 Jan.
ISSN:1447-0756
País de publicação:Australia
Idioma:eng
Resumo:Around 10-15% of pregnancies result in a spontaneous first trimester miscarriage, which is most frequently caused by chromosomal abnormalities, mainly aneuploidies. Genetic analysis of pregnancy loss includes conventional G-banding karyotyping and various molecular methods. Apart from variable methodological limitations, the effectiveness of genetic analysis depends on the type and quality of the tested sample. To improve the reliability of genetic testing, we present methods of appropriate collection and pre-laboratory preparation of chorionic villi from first trimester miscarriage. We also discuss issues of maternal cell contamination, placental mosaicism and reciprocal and Robertsonian translocations in the context of interpretation of the results and genetic counseling.
Tipo de publicação: JOURNAL ARTICLE; REVIEW
Nome de substância:0 (DNA Probes)


  9 / 2287 MEDLINE  
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PMID:27889305
Autor:Li DZ; Yang YD
Endereço:Prenatal Diagnostic Center, Guangzhou Women and Children Medical Center Affiliated to Guangzhou Medical University, Guangzhou, Guangdong, China. Electronic address: lidongzhi2013@aliyun.com.
Título:Invasive prenatal diagnosis of fetal thalassemia.
Fonte:Best Pract Res Clin Obstet Gynaecol; 39:41-52, 2017 Feb.
ISSN:1532-1932
País de publicação:Netherlands
Idioma:eng
Resumo:Thalassemia is the most common monogenic inherited disease worldwide, affecting individuals originating from many countries to various extents. As the disease requires long-term care, prevention of the homozygous state presents a substantial global disease burden. The comprehensively preventive programs involve carrier detections, molecular diagnostics, genetic counseling, and prenatal diagnosis. Invasive prenatal diagnosis refers to obtaining fetal material by chorionic villus sampling (CVS) at the first trimester, and by amniocentesis or cordocentesis at the second trimester. Molecular diagnosis, which includes multiple techniques that are aimed at the detection of mutations in the α- or ß-globin genes, facilitates prenatal diagnosis and definitive diagnosis of the fetus. These are valuable procedures for couples at risk, so that they can be offered options to have healthy offspring. According to local practices and legislation, genetic counseling should accompany the invasive diagnostic procedures, DNA testing, and disclosure of the results. The most critical issue in any type of prenatal molecular testing is maternal cell contamination (MCC), especially when a fetus is found to inherit a particular mutation from the mother. The best practice is to perform MCC studies on all prenatal samples. The recent successful studies of fetal DNA in maternal plasma may allow future prenatal testing that is non-invasive for the fetus and result in significant reduction of invasive diagnostic procedures.
Tipo de publicação: JOURNAL ARTICLE; REVIEW
Nome de substância:0 (Hemoglobins); 9007-49-2 (DNA)


  10 / 2287 MEDLINE  
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PMID:27416616
Autor:Niederstrasser SL; Hammer K; Möllers M; Falkenberg MK; Schmidt R; Steinhard J; Klockenbusch W; Schmitz R
Título:Fetal loss following invasive prenatal testing: a comparison of transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis.
Fonte:J Perinat Med; 45(2):193-198, 2017 Feb 01.
ISSN:1619-3997
País de publicação:Germany
Idioma:eng
Resumo:OBJECTIVE: The aim of this study was to compare transabdominal chorionic villus sampling, transcervical chorionic villus sampling and amniocentesis with respect to their total fetal loss rates. METHODS: We retrospectively evaluated procedures of invasive prenatal testing performed during a 14-year period (2001-2014) including 936 amniocentesis procedures and 1051 chorionic villus samplings, of which 405 cases were executed transabdominally and 646 transcervically. Only singleton pregnancies before 24 weeks and 0 days of gestation where the pregnancy outcome was known were included. Fetal loss was defined as an abortion occurring either before 24 weeks and 0 days of gestation or <2 weeks after the procedure. RESULTS: The total fetal loss rates were determined to be 1.73% for transabdominal chorionic villus sampling, 2.01% for transcervical chorionic villus sampling and 1.18% for amniocentesis. No statistically noticeable differences between the total fetal loss rates of all three procedures were found (P=0.399). CONCLUSION: Our study has shown that chorionic villus sampling (either transabdominal or transcervical) and amniocentesis are equal methods for invasive prenatal testing with respect to their abortion risk.
Tipo de publicação: COMPARATIVE STUDY; JOURNAL ARTICLE



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