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Chorionic villous sampling

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https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#1
Gheona Altarescu
Abstract During the last two decades prenatal genetic screening and diagnosis has become the cornerstone of medical care for family planning to prevent genetic disease. Carrier screening programs for genetic disorders that are prevalent in various populations identify couples and pregnancies at risk of having an affected child. These couples can proceed with a choice of invasive prenatal diagnosis tests of the fetus (chorionic villous sampling and amniocentesis), or non-invasive prenatal testing of free fetal DNA circulation in the maternal blood which has emerged within the last few years and is currently available for fetal sexing for X Linked disorders...
June 2016: Pediatric Endocrinology Reviews: PER
https://www.readbyqxmd.com/read/27462421/uniparental-disomy-of-the-entire-x-chromosome-in-turner-syndrome-patient-specific-induced-pluripotent-stem-cells
#2
Yumei Luo, Detu Zhu, Rong Du, Yu Gong, Chun Xie, Xiangye Xu, Yong Fan, Bolan Yu, Xiaofang Sun, Yaoyong Chen
The human induced pluripotent stem cell (iPSC) technique promises to provide an unlimited, reliable source of genetically matched pluripotent cells for personalized therapy and disease modeling. Recently, it is observed that cells with ring chromosomes 13 or 17 autonomously correct the defects via compensatory uniparental disomy during cellular reprogramming to iPSCs. This breakthrough finding suggests a potential therapeutic approach to repair large-scale chromosomal aberrations. However, due to the scarceness of ring chromosome samples, the reproducibility of this approach in different individuals is not carefully evaluated yet...
2015: Cell Discovery
https://www.readbyqxmd.com/read/27352773/chorionic-villous-sampling-through-transvaginal-ultrasound-approach-a-retrospective-analysis-of-1138-cases
#3
Mohan S Kamath, Sujata Pradhan, Eunice Sindhuvi Edison, Shaji Ramachandran Velayudhan, Belavendra Antonisamy, Muthukumar Karthikeyan, Ann M Mangalaraj, Aleyamma Kunjummen, Korula George
AIM: The aim of this study was to evaluate the effectiveness and safety of a transvaginal approach for chorionic villous sampling (CVS). METHODS: We carried out a retrospective data analysis of all the transvaginal CVS procedures performed for the purpose of prenatal diagnosis in a university-level referral center between January 2000 and December 2014. Women underwent the prenatal testing between 10 and 17 weeks of gestation mainly for hematological disorders involving single gene defects...
June 29, 2016: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/27284992/impairment-of-angiogenic-sphingosine-kinase-1-sphingosine-1-phosphate-receptors-pathway-in-preeclampsia
#4
Aneta Dobierzewska, Macarena Palominos, Marianela Sanchez, Michael Dyhr, Katja Helgert, Pia Venegas-Araneda, Stephen Tong, Sebastian E Illanes
Preeclampsia (PE), is a serious pregnancy disorder characterized in the early gestation by shallow trophoblast invasion, impaired placental neo-angiogenesis, placental hypoxia and ischemia, which leads to maternal and fetal morbidity and mortality. Here we hypothesized that angiogenic sphingosine kinase-1 (SPHK1)/sphingosine-1-phosphate (S1P) receptors pathway is impaired in PE. We found that SPHK1 mRNA and protein expression are down-regulated in term placentae and term chorionic villous explants from patients with PE or severe PE (PES), compared with controls...
2016: PloS One
https://www.readbyqxmd.com/read/27169102/assessment-of-high-resolution-melt-analysis-feasibility-for-evaluation-of-beta-globin-gene-mutations-as-a-reproducible-cost-efficient-and-fast-alternative-to-the-present-conventional-method
#5
Mahboubeh Ramezanzadeh, Mansour Salehi, Rasoul Salehi
BACKGROUND: Beta-thalassemia is the most prevalent monogenic disease throughout the world. It was the first genetic disorder nominated for nation-wide prevention programs involving population screening for heterozygotes and prenatal diagnosis (PND) in Iran. Due to the high prevalence of beta-thalassemia, the shift from conventional mutation detection methods to more recently developed techniques based on novel innovative technologies are essential. We aimed to develop a real-time polymerase chain reaction (PCR) based protocol using high resolution melting (HRM) analysis for diagnosis of common beta-thalassemia mutations...
2016: Advanced Biomedical Research
https://www.readbyqxmd.com/read/27097074/cytogenetic-highlights-and-transitions
#6
Nancy B Spinner
Medical cytogenetics, genetic diagnostics, and medical genetics had their origins in the late 1950's, as evaluation of human chromosomes became possible, and it was recognized that chromosomal abnormalities could cause a variety of clinical phenotypes. Dr. Laird Jackson began his medical and scientific career just as this field was emerging and he was an early adopter and driver of several key trends in the development of these fields, notably in the area of prenatal diagnostics. Laird's greatest impact was in his work to demonstrate the clinical utility of amniocentesis, chorionic villous sampling, and chromosomal microarray analysis for prenatal diagnosis...
June 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/26914234/differential-mouse-strain-specific-expression-of-junctional-adhesion-molecule-jam-b-in-placental-structures
#7
Ina Annelies Stelzer, Mayumi Mori, Francesco DeMayo, John Lydon, Petra Clara Arck, Maria Emilia Solano
The junctional adhesion molecule (JAM)-B, a member of the immunoglobulin superfamily, is involved in stabilization of interendothelial cell-cell contacts, formation of vascular tubes, homeostasis of stem cell niches and promotion of leukocyte adhesion and transmigration. In the human placenta, JAM-B protein is abundant and mRNA transcripts are enriched in first-trimester extravillous trophoblast in comparison to the villous trophoblast. We here aimed to elucidate the yet unexplored spatio-temporal expression of JAM-B in the mouse placenta...
March 3, 2016: Cell Adhesion & Migration
https://www.readbyqxmd.com/read/26748159/differential-expression-of-human-placental-papp-a2-over-gestation-and-in-preeclampsia
#8
Anita W Kramer, Leah M Lamale-Smith, Virginia D Winn
INTRODUCTION: Pregnancy Associated Plasma Protein A2 (PAPP-A2) is a pregnancy related insulin-like growth factor binding protein-5 (IGFBP-5) protease, known to be elevated in preeclampsia. As the insulin-like growth factors are important in human implantation and placentation, we sought to determine the expression pattern of PAPP-A2 over human gestation in normal and preeclamptic pregnancies to evaluate its role in placental development and the pathogenesis of preeclampsia. METHODS: Placental basal plate and chorionic villi samples, maternal and fetal cord blood sera were obtained from preeclamptic and control pregnancies...
January 2016: Placenta
https://www.readbyqxmd.com/read/26601765/characterization-of-choline-transporters-in-the-human-placenta-over-gestation
#9
Heidi K Baumgartner, Kinsey M Trinder, Carly E Galimanis, Annalisa Post, Tzu Phang, Randal G Ross, Virginia D Winn
INTRODUCTION: The developing fetus relies on the maternal blood supply to provide the choline it requires for making membrane lipids, synthesizing acetylcholine, and performing important methylation reactions. It is vital, therefore, that the placenta is efficient at transporting choline from the maternal to the fetal circulation. Although choline transporters have been found in term placenta samples, little is known about what cell types express specific choline transporters and how expression of the transporters may change over gestation...
December 2015: Placenta
https://www.readbyqxmd.com/read/26553322/detection-of-paternally-inherited-fetal-point-mutations-for-%C3%AE-thalassemia-in-maternal-plasma-using-simple-fetal-dna-enrichment-protocol-with-or-without-whole-genome-amplification-an-accuracy-assessment
#10
Mahboubeh Ramezanzadeh, Mansour Salehi, Ziba Farajzadegan, Sara Kamali, Rasoul Salehi
OBJECTIVE: To design and evaluate a noninvasive protocol for prenatal diagnosis (PND) of β-thalassemia, using cell free fetal DNA (cff-DNA) in maternal circulation. Traditional current PND which is mainly based on chorionic villous sampling (CVS), amplification refractory mutation system and sequencing holds as gold standard. METHODS: Ten thalassemia trait couples with distinct mutations for the husband and wife were included in this study. The mutations in carrier fathers were IVSI-1, IVSI-5, FR8/9 and CD44...
2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/26530119/-non-invasive-prenatal-testing-challenges-for-future-implementation
#11
Lidewij Henneman, G C M L Lieve Page-Chrisiaens, Dick Oepkes
The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis...
2015: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/26394665/downregulation-of-apelin-in-the-human-placental-chorionic-villi-from-preeclamptic-pregnancies
#12
Liliya M Yamaleyeva, Mark C Chappell, K Bridget Brosnihan, Lauren Anton, David L Caudell, Sara Shi, Carolynne McGee, Nancy Pirro, Patricia E Gallagher, Robert N Taylor, David C Merrill, Heather L Mertz
The role of the endogenous apelin system in pregnancy is not well understood. Apelin's actions in pregnancy are further complicated by the expression of multiple forms of the peptide. Using radioimmunoassay (RIA) alone, we established the expression of apelin content in the chorionic villi of preeclamptic (PRE) and normal pregnant women (NORM) at 36-38 wk of gestation. Total apelin content was lower in PRE compared with NORM chorionic villi (49.7±3.4 vs. 72.3±9.8 fmol/mg protein; n=20-22) and was associated with a trend for lower preproapelin mRNA in the PRE...
November 15, 2015: American Journal of Physiology. Endocrinology and Metabolism
https://www.readbyqxmd.com/read/26323857/-elaboration-of-a-national-biobank-for-the-study-of-gestational-trophoblastic-diseases
#13
P-A Bolze, J Massardier, A Buénerd, F Thivolet Béjui, C Perrin, I Rouvet, D Sanlaville, M-C Mazé, N Dufay, P Gaucherand, G Chêne, T Hajri, F Golfier
AIM: To generate a national biobank made up of samples of the highest quality for the purpose of inciting basic research on gestational trophoblastic diseases (GTD). MATERIAL AND METHODS: Three priority axes of research were defined to optimize the nature, method of collection, and storage of the samples. These are: to enhance our understanding of GTD, develop new diagnostic tests, and identify new therapeutic targets. The protocol for patient inclusion and sample processing was determined after extensive literature review and collaboration with international experts in the field of GTD...
June 2016: Journal de Gynécologie, Obstétrique et Biologie de la Reproduction
https://www.readbyqxmd.com/read/26226247/intraplacental-villous-artery-resistance-indices-and-identification-of-placenta-mediated-diseases
#14
I Babic, Z M Ferraro, K Garbedian, A Oulette, C G Ball, F Moretti, A Gruslin
OBJECTIVE: Placenta-mediated diseases (PMDs) including preeclampsia and fetal growth restriction are often characterized by shallow trophoblast invasion and incomplete spiral artery remodeling leading to impaired placental perfusion. In this context, umbilical artery (UA) Doppler can be used to detect high resistance to flow characteristic of very late-stage placental disease. We propose that evaluation of intraplacental villous artery (IPVA) resistance can provide earlier detection of increased resistance in placental flow...
October 2015: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/26223508/first-trimester-ultrasound-screening-for-down-syndrome-based-on-maternal-age-fetal-nuchal-translucency-and-different-combinations-of-the-additional-markers-nasal-bone-tricuspid-and-ductus-venosus-flow
#15
Harald Abele, Philipp Wagner, Jiri Sonek, Markus Hoopmann, Sara Brucker, Burcu Artunc-Ulkumen, Karl Oliver Kagan
OBJECTIVE: To examine the performance of screening for Down syndrome based on maternal age, fetal nuchal translucency (NT) and different combinations of the additional ultrasound parameters: nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV). METHODS: Retrospective study at the University of Tuebingen, Germany including women who underwent chorionic villous sampling between 2008 and 2014. Prior to invasive testing, the crown rump length, NT, NB, TF and DV were measured...
December 2015: Prenatal Diagnosis
https://www.readbyqxmd.com/read/26213575/trisomy-xp-and-partial-tetrasomy-xq-resulting-from-gain-of-a-rearranged-x-chromosome-in-a-female-fetus-pathogenic-or-not
#16
Maria Yiu, Zhongxia Qi, Anita Ki, Jingwei Yu
Cytogenetic analysis of chorionic villous sampling revealed a mosaic karyotype with gain of a rearranged X chromosome. Microarray and additional studies indicated that the rearranged X carried an inverted duplication, a deletion and a satellited Xqter. Gain of this rearranged X was confirmed by follow-up amniocentesis and postnatal cord blood sample. A full-term infant girl was delivered and showed normal physical findings at both birth and 21-month follow-up examinations. Late replication studies demonstrated that the rearranged X was inactivated in all abnormal cells analyzed...
2015: Molecular Cytogenetics
https://www.readbyqxmd.com/read/26113896/fetal-nuchal-translucency-scan-in-nigeria
#17
Olufemi Adebari Oloyede, Mkpe Abbey, Adeniyi Adebowale Oloyede, Onyinye Nwachukwu
INTRODUCTION: To evaluate the performance of first trimester nuchal translucency scan screening among pregnant women in Nigeria. METHODS: A prospective observational and questionnaire based study involving 510 pregnant women between 11(+0) and 13(+6) weeks. Routine counselling and nuchal translucency measurement was conducted using the FMF, London guidelines. Chorionic villous sampling was done at NT ≥ 2.5 mm or ≥ 95th centile. RESULTS: Five hundred and ten out of 542 (94...
2014: Pan African Medical Journal
https://www.readbyqxmd.com/read/26109616/altered-%C3%AE-1-6-glcnac-and-bisecting-glcnac-branched-n-glycan-on-integrin-%C3%AE-1-are-associated-with-early-spontaneous-miscarriage-in-humans
#18
Min Zhang, Meirong Wang, Rufei Gao, Xueqing Liu, Xuemei Chen, Yanqing Geng, Yubin Ding, Yingxiong Wang, Junlin He
STUDY QUESTION: Do N-acetylglucosaminyltransferase (GnT-V) and N-acetylglucosaminyltransferase III (GnT-III) play an important role in early spontaneous miscarriage (ESM) in humans. SUMMARY ANSWER: The dynamic balance between GnT-V and GnT-III expression in chorionic villi differed between early normal pregnancy and ESM and was associated with altered β1,6-N-acetylglucosamine (β1,6-GlcNAc) and bisecting N-acetylglucosamine (bis-GlcNAc) branched N-glycans on integrin β1...
September 2015: Human Reproduction
https://www.readbyqxmd.com/read/26104642/molecular-mechanisms-and-therapeutic-implications-of-the-carbon-monoxide-hmox1-and-the-hydrogen-sulfide-cse-pathways-in-the-prevention-of-pre-eclampsia-and-fetal-growth-restriction
#19
Asif Ahmed
UNLABELLED: The exact aetiology of preeclampsia is unknown, but there is a good association with an imbalance in angiogenic growth factors and abnormal placentation (Ahmad and Ahmed, 2004). The incidence of preeclampsia is reduced by a third in smokers, but not in snuff users. Soluble Flt-1 (sFlt-1) and soluble endoglin (sEng) are increased prior to the clinical onset of preeclampsia. Animals exposed to high circulating levels of sFlt-1 and sEng elicit severe preeclampsia-like symptoms...
July 2014: Pregnancy Hypertension
https://www.readbyqxmd.com/read/26104499/apoptosis-and-proliferation-in-first-trimester-trophoblast-of-further-complicated-and-uncomplicated-pregnancies-related-to-maternal-serum-screening-markers
#20
Monique A Huisman, Albertus Timmer, Jan G Aarnoudse, Jan Jaap H M Erwich
INTRODUCTION: Differences in proliferation and apoptosis in term trophoblast as well as maternal serum markers (MSM) for Down's syndrome in early pregnancy are related to adverse pregnancy outcomes. We investigated proliferation and apoptosis in first trimester chorionic villous sampling (CVS) as well as MSM and related these to pregnancy outcome. MATERIALS AND METHODS: We selected 51 samples of first trimester chorionic villi of pregnancies later complicated by hypertensive disorders (HD) (n=36) and intra-uterine growth restriction (IUGR) (n=15) with matched controls...
April 2011: Pregnancy Hypertension
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