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https://www.readbyqxmd.com/read/28211989/timothy-syndrome-1-genotype-without-syndactyly-and-major-extracardiac-manifestations
#1
Róbert Sepp, Lidia Hategan, Attila Bácsi, Judit Cseklye, László Környei, János Borbás, Márta Széll, Tamás Forster, István Nagy, Zoltán Hegedűs
Timothy syndrome 1 (TS1) is a rare genetic disorder characterized by multisystem abnormalities including QT prolongation, congenital heart defects, facial dysmorphism, episodic hypoglycemia, and neurological symptoms. A morphological hallmark of TS1 is syndactyly, present in all cases. TS1 is caused by the canonical p.Gly406Arg mutation in the alternatively spliced exon 8A in the CACNA1C gene, encoding for the main cardiac L-type calcium channel. A variant case of TS1 is reported. The proband had intermittent fetal bradycardia with heart rate of 72 bpm...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28209774/methyl-donor-supplementation-alters-cognitive-performance-and-motivation-in-female-offspring-from-high-fat-diet-fed-dams
#2
Sarah E McKee, Nicola M Grissom, Christopher T Herdt, Teresa M Reyes
During gestation, fetal nutrition is entirely dependent on maternal diet. Maternal consumption of excess fat during pregnancy has been linked to an increased risk of neurologic disorders in offspring, including attention deficit/hyperactivity disorder, autism, and schizophrenia. In a mouse model, high-fat diet (HFD)-fed offspring have cognitive and executive function deficits as well as whole-genome DNA and promoter-specific hypomethylation in multiple brain regions. Dietary methyl donor supplementation during pregnancy or adulthood has been used to alter DNA methylation and behavior...
February 16, 2017: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/28207935/false-negative-fetal-cell-free-dna-screening-for-microdeletion-syndromes-in-the-presence-of-an-unbalanced-translocation-involving-monosomy-4p
#3
Zhongxia Qi, Shreshtha Madaan, Shilpa Chetty, Jingwei Yu, Arun P Wiita
No abstract text is available yet for this article.
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207933/chorionic-villus-sampling-in-the-cell-free-dna-aneuploidy-screening-era-careful-selection-criteria-can-maximise-the-clinical-utility-of-screening-and-invasive-testing
#4
Stefan C Kane, Karen L Reidy, Fiona Norris, Deborah L Nisbet, Louise H Kornman, Ricardo Palma-Dias
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 cell-free DNA screening panels...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28202385/long-term-consequences-of-disrupting-adenosine-signaling-during-embryonic-development
#5
REVIEW
Scott A Rivkees, Christopher C Wendler
There is growing evidence that disruption in the prenatal environment can have long-lasting effects on an individual's health in adulthood. Research on the fetal programming of adult diseases, including cardiovascular disease, focuses on epi-mutations, which alter the normal pattern of epigenetic factors such as DNA methylation, miRNA expression, or chromatin modification, rather than traditional genetic alteration. Thus, understanding how in utero chemical exposures alter epigenetics and lead to adult disease is of considerable public health concern...
February 12, 2017: Molecular Aspects of Medicine
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#6
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28189027/the-flame-retardant-2-2-4-4-tetrabromodiphenyl-ether-enhances-the-expression-of-corticotropin-releasing-hormone-in-the-placental-cell-model-jeg-3
#7
Yun Zhu, Yan Qin Tan, Chi Chiu Wang, Lai K Leung
Polybrominated diphenyl ethers (PBDEs) are chemicals used as flame retardants in household products. After disposing of these items, PBDEs leach from the products by surface water. BDE-47 is a PBDE congener commonly isolated from contaminated food and is the most studied isomer. The placenta is the major source of hormones during pregnancy, and an elevated level of corticotrophin-releasing hormone (CRH) is associated with premature delivery. In the present study, we examined changes in the placental CRH expression under BDE-47 exposure in the JEG-3 cell model system...
January 31, 2017: Chemosphere
https://www.readbyqxmd.com/read/28188612/hepatitis-b-immunoglobulin-during-pregnancy-for-prevention-of-mother-to-child-transmission-of-hepatitis-b-virus
#8
REVIEW
Ahizechukwu C Eke, George U Eleje, Uzoamaka A Eke, Yun Xia, Jiao Liu
BACKGROUND: Hepatitis is a viral infection of the liver. It is mainly transmitted between people through contact with infected blood, frequently from mother to baby in-utero. Hepatitis B poses significant risk to the fetus and up to 85% of infants infected by their mothers at birth develop chronic hepatitis B virus (HBV) infection. Hepatitis B immunoglobulin (HBIG) is a purified solution of human immunoglobulin that could be administered to the mother, newborn, or both. HBIG offers protection against HBV infection when administered to pregnant women who test positive for hepatitis B envelope antigen (HBeAg) or hepatitis B surface antigen (HBsAg), or both...
February 11, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/28187949/long-term-alterations-to-dna-methylation-as-a-biomarker-of-prenatal-alcohol-exposure-from-mouse-models-to-human-children-with-fetal-alcohol-spectrum-disorders
#9
REVIEW
Benjamin I Laufer, Eric J Chater-Diehl, Joachim Kapalanga, Shiva M Singh
Rodent models of Fetal Alcohol Spectrum Disorders (FASD) have revealed that prenatal alcohol exposure (PAE) results in differential DNA cytosine methylation in the developing brain. The resulting genome-wide methylation changes are enriched in genes with neurodevelopmental functions. The profile of differential methylation is dynamic and present in some form for life. The methylation changes are transmitted across subsequent mitotic divisions, where they are maintained and further modified over time. More recent follow up has identified a profile of the differential methylation in the buccal swabs of young children born with FASD...
November 22, 2016: Alcohol
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#10
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185343/birth-and-death-evidence-for-the-same-biologic-clock
#11
Mark Phillippe, Shiela M Phillippe
In mammals, there exists a strong correlation between the average life span (in years) and the length of gestation (in days), suggesting that the same biologic clock mechanisms control both of these physiologic events. Life span is determined by a complex sequence of events leading to organismal senescence, and ultimately death. Although multiple biochemical and cellular phenomena are believed to be involved, progressive telomere shortening due to oxidative stress and loss during DNA replication is believed to be an important determinant contributing to aging, senescence, and adult death...
February 10, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#12
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28171857/the-iona%C3%A2-test-development-of-an-automated-cell-free-dna-based-screening-test-for-fetal-trisomies-13-18-and-21-that-employs-the-ion-proton-semiconductor-sequencing-platform
#13
Francesco Crea, Matthew Forman, Rachel Hulme, Robert W Old, Dan Ryan, Rosalyn Mazey, Michael D Risley
OBJECTIVE: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA from maternal blood with an automated workflow using the Ion Proton sequencing platform. METHODS: An automated next-generation sequencing workflow was developed using the Ion Proton sequencing platform and software developed for straightforward bioinformatic analysis. An algorithm was developed using 239 samples to determine the likelihood of trisomy, using DNA fragment counts and a fetal fraction validity check; the results were compared with those from invasive diagnostic procedures...
February 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28166970/effects-of-intrauterine-growth-restriction-during-late-pregnancy-on-the-cell-apoptosis-and-related-gene-expression-in-ovine-fetal-liver
#14
Yingchun Liu, Chi Ma, Hui Li, Lingyao Li, Feng Gao, Changjin Ao
This study investigated the effect of intrauterine growth restriction (IUGR) during late pregnancy on the cell apoptosis and related gene expression in ovine fetal liver. Eighteen time-mated Mongolian ewes with singleton fetuses were allocated to three groups at d 90 of pregnancy: Restricted Group 1 (RG1, 0.18 MJ ME kg BW(-0.75) d(-1), n = 6), Restricted Group 2 (RG2, 0.33 MJ ME kg BW(-0.75) d(-1), n = 6) and a Control Group (CG, ad libitum, 0.67 MJ ME kg BW (-0.75) d (-1), n = 6). Fetuses were recovered at slaughter on d 140...
March 1, 2017: Theriogenology
https://www.readbyqxmd.com/read/28165140/coffee-control-free-noninvasive-fetal-chromosomal-examination-using-maternal-plasma-dna
#15
Kun Sun, K C Allen Chan, Irena Hudecova, Rossa W K Chiu, Y M Dennis Lo, Peiyong Jiang
OBJECTIVE: The aim of this study is to develop an approach for analyzing plasma DNA sequencing data for noninvasive fetal chromosomal aneuploidy testing that does not require the comparison with control samples or a series of selected genomic regions. RESULTS: We developed the control-free noninvasive fetal chromosomal examination (COFFEE) algorithm by utilizing the size differences between the fetally derived and maternally derived DNA molecules in maternal plasma...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28161065/placental-genetic-variations-in-vitamin-d-metabolism-and-birthweight
#16
Tsegaselassie Workalemahu, Sylvia E Badon, Michal Dishi-Galitzky, Chunfang Qiu, Michelle A Williams, Tanya Sorensen, Daniel A Enquobahrie
INTRODUCTION: Vitamin D has pleiotropic functions that regulate fetal growth and development. We investigated associations of common placental genetic variations in vitamin D metabolism with birthweight. METHODS: The study was conducted among participants (506 maternal-infant pairs) of a pregnancy cohort study. Data were collected using interviewer-administered questionnaires and post-delivery medical record abstraction. DNA, extracted from placental samples collected at delivery, was genotyped for eight single nucleotide polymorphisms (SNPs) in five vitamin D metabolism genes (CUBN, LRP2, VDR, GC, and CYP2R1)...
February 2017: Placenta
https://www.readbyqxmd.com/read/28160500/il-10-expression-in-macrophages-from-neonates-born-from-obese-mothers-is-suppressed-by-il-4-and-lps-inf%C3%AE
#17
Francisca Cifuentes-Zúñiga, Viviana Arroyo-Jousse, Gustavo Soto-Carrasco, Paola Casanello, Ricardo Uauy, Bernardo J Krause, José A Castro-Rodríguez
: Obese women offspring have a higher risk of developing chronic diseases associated with an altered immune function. We aim to determine, in neonatal monocyte-derived macrophages, whether maternal obesity is associated with an altered expression and DNA methylation of pro- and anti-inflammatory genes, along with a higher pro-inflammatory response. Cord blood from newborns of obese (Ob) and lean (control) women were obtained at delivery. Monocytes were isolated and differentiated into macrophages, in which M1 (LPS/IFNγ) and M2 (IL-4) polarization were assayed...
February 4, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28158319/dnmt-1-maintains-hypermethylation-of-cag-promoter-specific-region-and-prevents-expression-of-exogenous-gene-in-fat-1-transgenic-sheep
#18
Chunrong Yang, Xueying Shang, Lei Cheng, Lei Yang, Xuefei Liu, Chunling Bai, Zhuying Wei, Jinlian Hua, Guangpeng Li
Methylation is an important issue in gene expression regulation and also in the fields of genetics and reproduction. In this study, we created fat-1 transgenic sheep, investigated the fine-mapping and the modulatory mechanisms of promoter methylation. Sheep fetal fibroblasts were transfected by pCAG-fat1-IRES-EGFP. Monoclonal cell line was screened as nuclear donor and carried out nuclear transfer (441 transgenic cloned embryos, 52 synchronism recipient sheep). Six offsprings were obtained. Expressions of exogenous genes fat-1 and EGFP were detectable in 10 examined tissues and upregulated omega-3 fatty acid content...
2017: PloS One
https://www.readbyqxmd.com/read/28158220/targeted-capture-enrichment-assay-for-non-invasive-prenatal-testing-of-large-and-small-size-sub-chromosomal-deletions-and-duplications
#19
Maria C Neofytou, Kyriakos Tsangaras, Elena Kypri, Charalambos Loizides, Marios Ioannides, Achilleas Achilleos, Petros Mina, Anna Keravnou, Carolina Sismani, George Koumbaris, Philippos C Patsalis
Noninvasive prenatal testing (NIPT) using whole genome and targeted sequencing has become increasingly accepted for clinical detection of Trisomy 21 and sex chromosome aneuploidies. Few studies have shown that sub-chromosomal deletions or duplications associated with genetic syndromes can also be detected in the fetus noninvasively. There are still limitations on these methodologies such as the detection of variants of unknown clinical significance, high number of false positives, and difficulties to detect small aberrations...
2017: PloS One
https://www.readbyqxmd.com/read/28152582/contribution-of-maternal-copy-number-variations-to-false-positive-fetal-trisomies-detected-by-noninvasive-prenatal-testing
#20
Xiya Zhou, Lili Sui, Yalan Xu, Yijun Song, Qingwei Qi, Jianguang Zhang, Hongmin Zhu, Huaiyu Sun, Feng Tian, Mengnan Xu, David S Cram, Juntao Liu
OBJECTIVE: The aim of the study was to determine the contribution and significance of maternal copy number variations (CNVs) to false positive NIPT trisomy results. METHODS: A total of 112,021 patients were referred for NIPT. Fetal aneuploidy testing was performed using low coverage massively parallel sequencing and results reported as chromosome Z-scores. Copy number variation sequencing (CNV-Seq) was used to detect maternal DNA CNVs. RESULTS: Confirmatory amniocentesis and karyotyping of 563 of 781 patients (72%) receiving a positive trisomy result revealed 489 true and 74 false positives...
February 2, 2017: Prenatal Diagnosis
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