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Chorionic villous sampling

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https://www.readbyqxmd.com/read/28800576/heterotopic-pregnancy-including-intrauterine-normal-gestation-and-tubal-complete-hydatidiform-mole-a-case-report-and-review-of-the-literature
#1
Dan Lu, Jian Jenny Tang, Konstantin Zakashansky, Ross S Berkowitz, Tamara Kalir, Yuxin Liu
We report a rare case of heterotopic pregnancy with intrauterine normal gestation alongside tubal complete hydatidiform mole (CHM) that resulted in a viable pregnancy after removal of molar tissue. Because of their rarity and inherent complexity, such cases represent a significant challenge in diagnosis and management. A 34-year-old female in her 10th week of gestation presented with nausea, vomiting, and intermittent abdominal pain that progressively worsened. Imaging studies revealed a normal intrauterine fetus and an 11-cm heterogenous mass in the left adnexal region...
September 2017: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/28754700/segregation-of-mitochondrial-dna-mutations-in-the-human-placenta-implication-for-prenatal-diagnosis-of-mtdna-disorders
#2
Pauline Vachin, Elodie Adda-Herzog, Gihad Chalouhi, Caroline Elie, Marlène Rio, Sophie Rondeau, Nadine Gigarel, Fabienne Jabot Hanin, Sophie Monnot, Roxana Borghese, Joana Bengoa, Yves Ville, Agnes Rotig, Arnold Munnich, Jean-Paul Bonnefont, Julie Steffann
BACKGROUND: Mitochondrial DNA (mtDNA) disorders have a high clinical variability, mainly explained by variation of the mutant load across tissues. The high recurrence risk of these serious diseases commonly results in requests from at-risk couples for prenatal diagnosis (PND), based on determination of the mutant load on a chorionic villous sample (CVS). Such procedures are hampered by the lack of data regarding mtDNA segregation in the placenta.The objectives of this report were to determine whether mutant loads (1) are homogeneously distributed across the whole placentas, (2) correlate with those in amniocytes and cord blood cells and (3) correlate with the mtDNA copy number...
July 28, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28693893/emerging-role-for-dysregulated-decidualization-in-the-genesis-of-preeclampsia
#3
Kirk P Conrad, Maria Belen Rabaglino, Emiel D Post Uiterweer
In normal human placentation, uterine invasion by trophoblast cells and subsequent spiral artery remodeling depend on cooperation among fetal trophoblasts and maternal decidual, myometrial, immune and vascular cells in the uterine wall. Therefore, aberrant function of anyone or several of these cell-types could theoretically impair placentation leading to the development of preeclampsia. Because trophoblast invasion and spiral artery remodeling occur during the first half of pregnancy, the molecular pathology of fetal placental and maternal decidual tissues following delivery may not be informative about the genesis of impaired placentation, which transpired months earlier...
June 9, 2017: Placenta
https://www.readbyqxmd.com/read/28665986/impact-of-prenatal-screening-on-the-prevalence-of-down-syndrome-in-slovenia
#4
Gorazd Rudolf, Nataša Tul, Ivan Verdenik, Marija Volk, Anamarija Brezigar, Nadja Kokalj Vokač, Nataša Jeršin, Bernarda Prosenc, Tanja Premru Sršen, Borut Peterlin
OBJECTIVES: To evaluate the impact of prenatal screening and genetic testing for trisomy 21 (T21) on the prevalence of T21 in Slovenia. DESIGN AND SETTING: Data about all prenatally and postnatally confirmed cases of T21 in Slovenia between 1981 and 2012 were collected retrospectively from all genetic laboratories in Slovenia. The expected number of babies with T21 according to maternal age was calculated. MAIN OUTCOME MEASURES: The primary outcomes measures were number of fetuses and newborn infants with T21 diagnosed prenatally and postnatally and the impact of advances in screening and genetic diagnostics on the prevalence of newborns with T21 in Slovenia...
2017: PloS One
https://www.readbyqxmd.com/read/28549829/impact-of-chlorpyrifos-on-human-villous-trophoblasts-and-chorionic-villi
#5
M E Ridano, A C Racca, J B Flores-Martin, R Fretes, C L Bandeira, L Reyna, E Bevilacqua, S Genti-Raimondi, G M Panzetta-Dutari
Placental barrier regulates maternal-fetal interchange protecting the baby from damage caused by substances found in the uterine environment or circulating in the vascular system. Organophosphate (OP) pesticides are a paramount group of environmental pollutants used in intensive agriculture for protection against diseases and pests. While many studies have reported an increased risk of pregnancy alterations in pregnant women exposed to OPs, few have analyzed the effects caused by these pesticides in the placenta...
August 15, 2017: Toxicology and Applied Pharmacology
https://www.readbyqxmd.com/read/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#6
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: The objective of this study is to compare the gestational age at termination for trisomy 13, 18, or 21 (aneuploidy) before and after the introduction of noninvasive prenatal testing (NIPT). METHODS: A retrospective cohort of women undergoing termination for aneuploidy at two academic institutions and one private clinic. We compared two time periods: before and after the introduction of NIPT (2006-2011 and 2012-2014, respectively). Maternal demographics and clinical characteristics were abstracted from the medical record...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28408374/expression-of-biglycan-in-first-trimester-chorionic-villous-sampling-placental-samples-and-altered-function-in-telomerase-immortalized-microvascular-endothelial-cells
#7
Amy Chui, Tilini Gunatillake, Shaun P Brennecke, Vera Ignjatovic, Paul T Monagle, John M Whitelock, Dagmar E van Zanten, Jasper Eijsink, Yao Wang, James Deane, Anthony J Borg, Janet Stevenson, Jan Jaap Erwich, Joanne M Said, Padma Murthi
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 BGN were determined. Furthermore, the expression of targets was validated in primary placental endothelial cells isolated from FGR or control pregnancies. APPROACH AND RESULTS: BGN 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...
June 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28067420/cost-effectiveness-of-cytogenetic-evaluation-of-products-of-conception-by-chorionic-villus-sampling-in-recurrent-miscarriage
#8
Florencia Petracchi, Cecilia Paez, Laura Igarzabal
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...
January 9, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27491212/prevention-is-the-best-therapy-the-geneticist-s-approach
#9
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
#10
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
#11
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...
October 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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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