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https://www.readbyqxmd.com/read/28822901/morphological-and-molecular-differences-in-corpus-luteum-of-pregnant-sows-from-divergent-genetic-groups
#1
Karine A Costa, Walmir da Silva, Renata Veroneze, José C Montes, Lucas L Verardo, Margareth E Botelho, Márcio S Duarte, Mariana M Neves, Paulo S Lopes, José D Guimarães, Susana A Teixeira, Laene Alcantara, Simone E F Guimarães
Comprehending mechanisms controlling corpus luteum (CL) angiogenesis and apoptosis in pregnant sows is essential to understand the physiological role of these processes in CL function, progesterone production and consequently in conceptus development and prenatal mortality. CL from 54 sows from two genetic groups, a commercial line (COM) and the local Piau breed (LPB), were obtained for gene expression (n = 3 COM; n = 6 LPB), histological and protein analysis (n = 3 COM; n = 3 LPB), divided in six gestational ages (seven, 15, 30, 45, 60 and 90 days)...
July 29, 2017: Theriogenology
https://www.readbyqxmd.com/read/28821999/developmental-neurotoxicity-of-the-hippocampus-following-in-utero-exposure-to-methylmercury-impairment-in-cell-signaling
#2
Luana Heimfarth, Jeferson Delgado, Moara Rodrigues Mignori, Daniel Pens Gelain, José Cláudio Fonseca Moreira, Regina Pessoa-Pureur
In this study, we assessed some hippocampal signaling cascades and behavioral impairments in 30-day-old rat pups prenatally exposed to methylmercury (MeHg). Pregnant rats were exposed to 1.0 or 2.0 mg/kg MeHg by gavage in alternated days from gestational day 5 until parturition. We found increased anxiety-like and decreased exploration behavior evaluated by open field test and deficit of both short- and long-term memories by novel object recognition task, respectively, in MeHg-treated pups. Downregulated PI3K/Akt/mTOR pathway and activated/hypophosphorylated (Ser9) GSK3β in MeHg-treated pups could be upstream of hyperphosphorylated Tau (Ser396) destabilizing microtubules and contributing to neural dysfunction in the hippocampus of these rats...
August 18, 2017: Archives of Toxicology
https://www.readbyqxmd.com/read/28821231/novel-mutations-in-pank2-and-pla2g6-genes-in-patients-with-neurodegenerative-disorders-two-case-reports
#3
Hassan Dastsooz, Hamid Nemati, Mohammad Ali Farazi Fard, Majid Fardaei, Mohammad Ali Faghihi
BACKGROUND: Neurodegeneration with brain iron accumulation (NBIA) is a genetically heterogeneous group of disorders associated with progressive impairment of movement, vision, and cognition. The disease is initially diagnosed on the basis of changes in brain magnetic resonance imaging which indicate an abnormal brain iron accumulation in the basal ganglia. However, the diagnosis of specific types should be based on both clinical findings and molecular genetic testing for genes associated with different types of NBIA, including PANK2, PLA2G6, C19orf12, FA2H, ATP13A2, WDR45, COASY, FTL, CP, and DCAF17...
August 18, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28820180/osteogenesis-imperfecta
#4
REVIEW
Joan C Marini, Antonella Forlino, Hans Peter Bächinger, Nick J Bishop, Peter H Byers, Anne De Paepe, Francois Fassier, Nadja Fratzl-Zelman, Kenneth M Kozloff, Deborah Krakow, Kathleen Montpetit, Oliver Semler
Skeletal deformity and bone fragility are the hallmarks of the brittle bone dysplasia osteogenesis imperfecta. The diagnosis of osteogenesis imperfecta usually depends on family history and clinical presentation characterized by a fracture (or fractures) during the prenatal period, at birth or in early childhood; genetic tests can confirm diagnosis. Osteogenesis imperfecta is caused by dominant autosomal mutations in the type I collagen coding genes (COL1A1 and COL1A2) in about 85% of individuals, affecting collagen quantity or structure...
August 18, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28815989/can-we-improve-risk-communication-about-non-invasive-prenatal-testing
#5
Dafina Petrova, Rocio Garcia-Retamero
Diagnostic information from prenatal screening for Down syndrome can help families prepare for the birth of a child with special needs or help them decide whether they want to continue with the pregnancy. Currently in the UK women are offered the combined screening test (a blood test and an ultrasound) that categorizes them into "higher risk" or "lower risk" groups (see www.nhs.uk). Women at higher risk are offered a diagnostic test, such as amniocentesis or chorionic villus sampling (CVS). These diagnostic tests are invasive and carry a 0...
August 17, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28809857/grandmaternal-stress-during-pregnancy-and-dna-methylation-of-the-third-generation-an-epigenome-wide-association-study
#6
F Serpeloni, K Radtke, S G de Assis, F Henning, D Nätt, T Elbert
Stress during pregnancy may impact subsequent generations, which is demonstrated by an increased susceptibility to childhood and adulthood health problems in the children and grandchildren. Although the importance of the prenatal environment is well reported with regards to future physical and emotional outcomes, little is known about the molecular mechanisms that mediate the long-term consequences of early stress across generations. Recent studies have identified DNA methylation as a possible mediator of the impact of prenatal stress in the offspring...
August 15, 2017: Translational Psychiatry
https://www.readbyqxmd.com/read/28809760/the-milestone-of-non-invasive-prenatal-identification-of-chromosomal-abnormalities-in-fetal-trophoblasts-recovered-from-maternal-blood
#7
Jaime Garcia-Heras
Two recent studies demonstrated that array CGH and NGS allow identification of chromosomal abnormalities in fetal trophoblasts circulating in maternal blood. This remarkable breakthrough paves the way for an improved assay that supersedes the performance of non-invasive prenatal testing (NIPT) in cell-free fetal DNA. Furthermore, it is foreseeable to expand the use of this new genomic analysis in trophoblasts to uncover single gene mutations of clinical significance prenatally.
2017: Journal of the Association of Genetic Technologists
https://www.readbyqxmd.com/read/28804563/count-based-size-correction-analysis-of-maternal-plasma-dna-for-improved-noninvasive-prenatal-detection-of-fetal-trisomies-13-18-and-21
#8
Li Zhang, Qian Zhu, He Wang, Shanling Liu
PURPOSE: Our goal was to derive more sensitive and accurate Z-scores based on combined DNA count- and size-based algorithms to advance molecular diagnostics for noninvasive prenatal testing of fetal trisomies. METHODS: We included 180 cases at high risk for fetal aneuploidy who underwent amniotic fluid cytogenetic analysis. We calculated their traditional count-based Z-scores, as well as their 100-, 130- and 150-, and 166-bp size-corrected Z-scores, and determined each Z-score's reliability based on its comparison to the cases' cytogenetic results...
2017: American Journal of Translational Research
https://www.readbyqxmd.com/read/28801976/implications-of-fetoplacental-mosaicism-on-cell-free-dna-testing-for-sex-chromosome-aneuploidies
#9
Francesca Romana Grati, Komal Bajaj, Valentina Zanatta, Francesca Malvestiti, Barbara Malvestiti, Livia Marcato, Beatrice Grimi, Federico Maggi, Giuseppe Simoni, Susan J Gross, Jose Ferreira
OBJECTIVE: The unique biological behavior of sex chromosomes has implications for cell-free DNA (cfDNA) testing. Our purpose is to predict the i) false positive/negative rates (FPR/FNR) of cfDNA testing consequent to feto-placental mosaicism for any sex chromosome anomaly (SCA) ii) positive (PPV) and negative predictive values (NPV) of a high- and low-risk cfDNA result for any SCA. METHOD: Retrospective analysis of 67030 chorionic villus sampling (CVS) karyotypes, including feto-placental mosaicism cases...
August 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28800889/spatio-temporal-expression-patterns-of-wnt-signaling-pathway-during-the-development-of-temporomandibular-condylar-cartilage
#10
Kan Chen, Huixin Quan, Gang Chen, Di Xiao
There is a growing body of evidence supporting the involvement of the Wnt signaling pathway in various aspects of skeletal and joint development; however, it is unclear whether it is involved in the process of temporomandibular joint development. In order to clarify this issue, we examined the spatio-temporal distribution of mRNAs and proteins of the Wnt family during the formation of the mandibular condylar cartilage at the prenatal and postnatal stages. An in situ hybridization test revealed no mRNAs of β-catenin and Axin2 during early mesenchymal condensation; the ligands surveyed in this study (including Wnt-4, 5a, and 9a) were clearly detected at various ranges of expression, mainly in the condylar blastema and later distinct cartilaginous layers...
August 8, 2017: Gene Expression Patterns: GEP
https://www.readbyqxmd.com/read/28798887/attitude-toward-prenatal-testing-and-termination-of-pregnancy-among-health-professionals-and-medical-students-in-saudi-arabia
#11
Nagwa E A Gaboon, Khadijah H Bakur, Alaa Y Edrees, Jumana Y Al-Aama
This study was aimed at assessing the attitude of health care professionals in Jeddah city toward prenatal diagnosis (PND) and termination of pregnancy (TOP). A cross-sectional study was conducted, and the participants completed a self-administered questionnaire. Approximately 82% of participants showed a consistent trend of accepting PND when appropriate, and 47.5% of the respondents were in favor of TOP if the fetus had a severe disease. Compared with men (69.3%), a significantly greater number of women (88%) accepted to have PND...
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28797149/-investigation-of-pregestational-diabetes-mellitus-in-15-hospitals-in-guangdong-province
#12
H T Chen, S Q Deng, Z Y Li, Z L Wang, Q Li, J K Gao, Y H Zhong, D M Suo, L N Lu, S L Pan, H X Chen, Y Y Cui, J H Fan, J Y Wen, L R Zhong, F Z Han, Y H Wang, S J Hu, P P Liu
Objective: To investigate the morbidity, diagnostic profile and perinatal outcome of pregestational diabetes mellitus (PGDM) in 15 hospitals in Guangdong province. Methods: A total of 41 338 women delivered in the 15 hospitals during the 6 months, 195 women with PGDM (PGDM group) and 195 women with normal glucose test result (control group) were recruited from these tertiary hospitals in Guangdong province from January 2016 to June 2016. The morbidity and diagnostic profile of PGDM were analyzed. The complications during pregnancy and perinatal outcomes were compared between the two groups...
July 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/28796911/re-evaluation-of-lung-to-thorax-transverse-area-ratio-immediately-before-birth-in-predicting-postnatal-short-term-outcomes-of-fetuses-with-isolated-left-sided-congenital-diaphragmatic-hernia-a-single-center-analysis
#13
Saki Kido, Nobuhiro Hidaka, Yuka Sato, Yasuyuki Fujita, Kina Miyoshi, Kouji Nagata, Tomoaki Taguchi, Kiyoko Kato
We aimed to investigate whether the lung-to-thorax transverse area ratio (LTR) immediately before birth is of diagnostic value for the prediction of postnatal short-term outcomes in cases of isolated left-sided congenital diaphragmatic hernia (CDH). We retrospectively reviewed the cases of fetal isolated left-sided CDH managed at our institution between April 2008 and July 2016. We divided the patients into 2 groups based on LTR immediately before birth, using a cut-off value of 0.08. We compared the proportions of subjects within the 2 groups who survived until discharge using Fisher's exact test...
August 10, 2017: Congenital Anomalies
https://www.readbyqxmd.com/read/28795359/the-diagnostics-of-human-steroid-hormone-disorders
#14
Małgorzata Dobosz, Aneta Manda-Handzlik, Beata Pyrżak, Urszula Demkow
Disturbances of the steroidogenesis or altered peripheral metabolism of steroids may result in severe clinical manifestations. Therefore, prompt diagnosis and initiation of medical treatment are desirable. The diagnostics of disorders of steroid hormone production, metabolism, and action have been previously based on immunoassay tests. However, in a modern medical laboratory, due to low accuracy of immunoassays, this technique is continuously replaced by chromatographic separation methods coupled to mass spectrometric detection systems...
August 10, 2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28795295/predictive-value-of-n95-waveforms-of-pattern-electroretinograms-pergs-in-children-with-optic-nerve-hypoplasia-onh
#15
Daphne McCulloch, Pamela Garcia-Filion, Cassandra Fink, Anthony C Fisher, Antonio Eleuteri, Mark S Borchert
PURPOSE: As part of a long-term, prospective study of prenatal and clinical risk factors for optic nerve hypoplasia (ONH) at Children's Hospital Los Angeles, pattern ERGs (PERGs) were evaluated for prognostic value using an automated objective and robust analytical method. METHODS: Participants were 33 children with ophthalmoscopically diagnosed ONH [disc diameter-to-disc macula ratio (DD/DM) less than 0.35 in one or both eyes on fundus photographs]. Using cycloplegia and chloral hydrate sedation in one session before 26 months of age, we recorded PERGs to checkerboard reversal using five check sizes...
August 9, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28792998/validation-of-qf-pcr-for-prenatal-diagnoses-in-a-brazilian-population
#16
Renata Wendel de Moraes, Mario Henrique Burlacchini de Carvalho, Antonio Gomes de Amorim-Filho, Rossana Pulcineli Vieira Francisco, Renata Moscolini Romão, José Eduardo Levi, Marcelo Zugaib
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes...
July 2017: Clinics
https://www.readbyqxmd.com/read/28792882/supporting-women-s-autonomy-in-prenatal-testing
#17
Josephine Johnston, Ruth M Farrell, Erik Parens
Early and noninvasive fetal genetic sequencing is on the horizon. Such expanded prenatal testing could offer patients substantial benefits. But current practices in prenatal screening and the complex nature of genomic science and technology create the risk that these tests will be integrated into..
August 10, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28792712/external-quality-assessment-of-first-trimester-prenatal-biochemical-screening-in-china
#18
Shishi Zhang, Xiaoyan Zhang, Wei Wang, Falin He, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: Free β subunit of human chorionic gonadotropin (free β-hCG) and pregnancy-associated plasma protein A (PAPP-A) are two important biomarkers in first-trimester prenatal screening. This study intended to reflect their analytical performance in clinical laboratories and main platforms of the 2015 External Quality Assessment (EQA) scheme for the first-trimester biochemical screening in China. METHODS: Ten lyophilized EQA samples, divided into two sets and analyzed in two cycles 20151 and 20152, were distributed to each participant in 2015...
July 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28790020/prenatal-choline-supplementation-attenuates-mk-801-induced-deficits-in-memory-motor-function-and-hippocampal-plasticity-in-adult-male-rats
#19
Chelsea A Nickerson, Alexandra L Brown, Waylin Yu, Yoona Chun, Melissa J Glenn
Choline is essential to the development and function of the central nervous system and supplemental choline during development is neuroprotective against a variety of insults, including neurotoxins like dizocilpine (MK-801). MK-801 is an NMDA receptor antagonist that is frequently used in rodent models of psychological disorders, particularly schizophrenia. At low doses, it causes cognitive impairments, and at higher doses it induces motor deficits, anhedonia, and neuronal degeneration. The primary goals of the present study were to investigate whether prenatal choline supplementation protects against the cognitive impairments, motor deficits, and neuropathologies that are precipitated by MK-801 administration in adulthood...
August 5, 2017: Neuroscience
https://www.readbyqxmd.com/read/28782502/society-for-maternal-fetal-medicine-smfm-consult-series-43-hepatitis-c-in-pregnancy-screening-treatment-and-management
#20
Brenna L Hughes, Charlotte M Page, Jeffrey A Kuller
In the United States, 1-2.5% of pregnant women are infected with hepatitis C virus (HCV), which carries an approximately 5% risk of transmission from mother to infant. HCV can be transmitted to the infant in utero or during the peripartum period, and infection during pregnancy is associated with increased risk of adverse fetal outcomes, including fetal growth restriction and low birth weight. The purpose of this document is to discuss the current evidence regarding HCV in pregnancy and to provide recommendations on screening, treatment, and management of this disease during pregnancy...
August 3, 2017: American Journal of Obstetrics and Gynecology
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