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https://www.readbyqxmd.com/read/29222462/a-translational-model-to-determine-rodent-s-age-from-human-foetal-age
#1
Yoshiyuki Ohmura, Yasuo Kuniyoshi
To understand the prenatal origin of developmental and psychiatric disorders, studies in laboratory animals are imperative. However, the developmental pace differs between humans and animals; hence, corresponding human ages must be estimated to infer the most vulnerable developmental timings in humans. Because rats and mice are extensively used as models in developmental research, a correspondence between human foetal ages and rodents' ages must be precisely determined; thus, developing a translational model is of utmost importance...
December 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29219113/diagnostic-role-of-microrna-expression-profile-in-the-prenatal-amniotic-fluid-samples-of-pregnant-women-with-down-syndrome
#2
Emin Karaca, Ayça Aykut, Biray Ertürk, Burak Durmaz, Ahmet Güler, Barış Büke, Ahmet Özgür Yeniel, Ahmet Mete Ergenoğlu, Ferda Özkınay, Mehmet Özeren, Mert Kazandı, Fuat Akercan, Sermet Sağol, Cumhur Gündüz, Özgür Çoğulu
BACKGROUND: Down syndrome is the most common chromosomal anomaly in humans. Down syndrome is the most common chromosomal anomaly in humans affecting people from every race and age. Most of the cases are can be diagnosed by prenatal diagnostic methods in pregnancy. Due to the longtime of culture method applied for prenatal diagnosis, genetic analysis has been developed and developing for rapid diagnosis. For this reason, the effective use of miRNAs was investigated in the rapid analysis of prenatal samples with Down syndrome...
December 8, 2017: Balkan Medical Journal
https://www.readbyqxmd.com/read/29218069/down-syndrome-genetics-and-cardiogenetics
#3
Vasilica Plaiasu
During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21...
September 2017: Mædica
https://www.readbyqxmd.com/read/29216282/sequential-combined-test-second-trimester-maternal-serum-markers-and-circulating-fetal-cells-to-select-women-for-invasive-prenatal-diagnosis
#4
Paolo Guanciali Franchi, Chiara Palka, Elisena Morizio, Giulia Sabbatinelli, Melissa Alfonsi, Donatella Fantasia, Giammaria Sitar, Peter Benn, Giuseppe Calabrese
From January 1st 2013 to August 31st 2016, 24408 pregnant women received the first trimester Combined test and contingently offered second trimester maternal serum screening to identify those women who would most benefit from invasive prenatal diagnosis (IPD). The screening was based on first trimester cut-offs of ≥1:30 (IPD indicated), 1:31 to 1:899 (second trimester screening indicated) and ≤1:900 (no further action), and a second trimester cut-off of ≥1:250. From January 2014, analysis of fetal cells from peripheral maternal blood was also offered to women with positive screening results...
2017: PloS One
https://www.readbyqxmd.com/read/29215710/impact-of-nationwide-health-insurance-coverage-for-non-invasive-prenatal-testing
#5
Valentina Vinante, Bettina Keller, Evelyn A Huhn, Dorothy Huang, Olav Lapaire, Gwendolin Manegold-Brauer
OBJECTIVE: To describe the changes in women's choices for prenatal testing after the introduction of nationwide health insurance coverage for non-invasive prenatal testing (NIPT) in Switzerland. METHODS: The present retrospective study reviewed data from all women with singleton pregnancies who presented at the prenatal unit of Basel University Hospital, Switzerland, for first-trimester screening between July 15, 2014, and December 31, 2015. Women were divided into three categories according to their risk for aneuploidy, and the uptake of NIPT in the period before and after the introduction of the nationwide coverage for NIPT was compared...
December 7, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29215645/cherchez-la-femme-maternal-incidental-findings-can-explain-discordant-prenatal-cell-free-dna-sequencing-results
#6
REVIEW
Diana W Bianchi
Circulating DNA fragments in a pregnant woman's plasma derive from three sources: placenta, maternal bone marrow, and fetus. Prenatal sequencing to noninvasively screen for fetal chromosome abnormalities is performed on this mixed sample; results can therefore reflect the maternal as well as the fetoplacental DNA. Although it is recommended that pretest counseling include the possibility of detecting maternal genomic imbalance, this seldom occurs. Maternal abnormalities that can affect a prenatal screening test result include disorders that affect the size and metabolism of DNA, such as B12 deficiency, autoimmune disease, and intrahepatic cholestasis of pregnancy...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215049/str-profiling-and-copy-number-variation-analysis-on-single-preserved-cells-using-current-whole-genome-amplification-methods
#7
Ann-Sophie Vander Plaetsen, Lieselot Deleye, Senne Cornelis, Laurentijn Tilleman, Filip Van Nieuwerburgh, Dieter Deforce
The growing interest in liquid biopsies for cancer research and cell-based non-invasive prenatal testing (NIPT) invigorates the need for improved single cell analysis. In these applications, target cells are extremely rare and fragile in peripheral circulation, which makes the genetic analysis very challenging. To overcome these challenges, cell stabilization and unbiased whole genome amplification are required. This study investigates the performance of four WGA methods on single or a limited number of cells after 24 hour of Streck Cell-Free DNA BCT preservation...
December 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29213331/noninvasive-prenatal-diagnosis-of-fetal-aneuploidy-by-circulating-fetal-nucleated-red-blood-cells-and-extravillous-trophoblasts-using-silicon-based-nanostructured-microfluidics
#8
Chung-Er Huang, Gwo-Chin Ma, Hei-Jen Jou, Wen-Hsiang Lin, Dong-Jay Lee, Yi-Shing Lin, Norman A Ginsberg, Hsin-Fu Chen, Frank Mau-Chung Chang, Ming Chen
Background: Noninvasive prenatal testing (NIPT) based on cell-free DNA in maternal circulation has been accepted worldwide by the clinical community since 2011 but limitations, such as maternal malignancy and fetoplacental mosaicism, preclude its full replacement of invasive prenatal diagnosis. We present a novel silicon-based nanostructured microfluidics platform named as "Cell Reveal™" to demonstrate the feasibility of capturing circulating fetal nucleated red blood cells (fnRBC) and extravillous cytotrophoblasts (EVT) for cell-based noninvasive prenatal diagnosis (cbNIPD)...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29211547/prenatal-exposure-to-polychlorinated-biphenyls-and-asthma-eczema-hay-fever-and-frequent-ear-infections
#9
Margaret Parker-Lalomio, Kenneth McCann, Julie Piorkowski, Sally Freels, Victoria W Persky
OBJECTIVES: The effects of prenatal exposure to Polychlorinated biphenyls (PCBs) on the development of asthma, frequent ear infections, and eczema/hay fever are not well understood. We aim to investigate associations between prenatal PCB exposure and these health outcomes in the offspring of women who worked at the LaSalle Electrical Utilities Company (EUC). METHODS: A retrospective cohort with at least one live birth and known employment time at EUC was eligible for this analysis...
December 6, 2017: Journal of Asthma: Official Journal of the Association for the Care of Asthma
https://www.readbyqxmd.com/read/29211324/non-invasive-prenatal-testing-for-fetal-inheritance-of-maternal-%C3%AE-thalassaemia-mutations-using-targeted-sequencing-and-relative-mutation-dosage-a-feasibility-study
#10
Li Xiong, Angela N Barrett, Rui Hua, Sherry S Y Ho, Li Jun, K C Allen Chan, Zhong Mei, Mahesh Choolani
OBJECTIVE: To evaluate whether targeted sequencing and relative mutation dosage can be used to correctly diagnose inheritance of maternal β-thalassaemia mutations in cell-free DNA. DESIGN: Feasibility study using samples collected in a prenatal clinic. SETTING: South East Asia. POPULATION: Couples where both partners were known to be carriers of one of four common β-thalassaemia mutations or an HbE mutation, and therefore at risk of carrying a fetus affected with β-thalassaemia...
December 6, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29211205/validity-of-self-reported-weight-height-and-bmi-in-mothers-of-the-research-birth-in-brazil
#11
Roberta Gabriela Pimenta da Silva Araújo, Silvana Granado Nogueira da Gama, Denise Cavalcante de Barros, Cláudia Saunders, Inês Echenique Mattos
OBJECTIVE: To evaluate the accuracy of information on pre-gestational weight, height, pre-gestational body mass index, and weight at the last prenatal appointment, according to maternal characteristics and sociodemographic and prenatal variables. METHODS: The study was developed using data from the face-to-face questionnaire and prenatal card (gold standard) of the study "Birth in Brazil, 2011-2012". To evaluate the differences between the measured and self-reported anthropometric variables, we used the the Kruskal-Wallis test for the variables divided into quartiles...
December 4, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/29211204/pragmatic-criteria-of-the-definition-of-neonatal-near-miss-a-comparative-study
#12
Pauline Lorena Kale, Maria Helena Prado de Mello Jorge, Ruy Laurenti, Sandra Costa Fonseca, Kátia Silveira da Silva
OBJECTIVE: The objective of this study was to test the validity of the pragmatic criteria of the definitions of neonatal near miss, extending them throughout the infant period, and to estimate the indicators of perinatal care in public maternity hospitals. METHODS: A cohort of live births from six maternity hospitals in the municipalities of São Paulo, Niterói, and Rio de Janeiro, Brazil, was carried out in 2011. We carried out interviews and checked prenatal cards and medical records...
December 4, 2017: Revista de Saúde Pública
https://www.readbyqxmd.com/read/29210520/supplementation-during-pregnancy-with-small-quantity-lipid-based-nutrient-supplements-or-multiple-micronutrients-compared-with-iron-and-folic-acid-increases-women-s-urinary-iodine-concentration-in-semiurban-ghana-a-randomized-controlled-trial
#13
Seth Adu-Afarwuah, Rebecca T Young, Anna Lartey, Harriet Okronipa, Per Ashorn, Ulla Ashorn, Mamane Zeilani, Kathryn G Dewey
There is little information on whether prenatal multiple micronutrient (MMN) supplements containing iodine affect women's iodine status. In the International Lipid-based Nutrient Supplements DYAD-Ghana trial, we aimed to assess women's urinary iodine concentration (UIC, μg/L) during pregnancy, as one of the planned secondary outcomes. Women (n = 1,320) <20 weeks of gestation were randomized to consume 60 mg iron and 400 μg folic acid per day (iron and folic acid [IFA]); 18 vitamins and minerals including 250 μg iodine per day (MMN); or 20 g/day of small-quantity lipid-based nutrient supplements (LNS) with the same and additional 4 vitamins and minerals as the MMN (LNS)...
December 6, 2017: Maternal & Child Nutrition
https://www.readbyqxmd.com/read/29209991/current-emerging-and-future-applications-of-digital-pcr-in-non-invasive-prenatal-diagnosis
#14
Juliette Nectoux
Digital PCR (dPCR) approaches have been developed for the detection of nucleic acids of low abundance, such as cell-free DNA, and represent an attractive and sensitive alternative to conventional methods, particularly in the field of non-invasive prenatal diagnosis (NIPD). In this review, we present the principle of dPCR and its applications in the field of prenatal diagnosis from current and emerging uses, such as fetal gender determination, rhesus blood group D antigen genotyping, or monogenic disorders prenatal testing, to future applications, such as the diagnosis and monitoring of pregnancy-related disorders...
December 5, 2017: Molecular Diagnosis & Therapy
https://www.readbyqxmd.com/read/29207734/prenatal-screening-for-rare-co-inheritance-of-hbe-and-%C3%AE-thalassaemia-traits-in-western-india
#15
Parth S Shah, Hari Shankar P Ray, Ketan K Vaghasia, Sandip C Shah, Mandava V Rao
The mutations in Haemoglobin Beta (HBB) gene, bring about less or no production of Hb β-chain synthesis in affected cases, leading from minor to major types depending on haematological indices. In compound heterozygotic conditions, two traits are involved, in which one parent has HbE trait and the other has β-thalassaemia carrier (trait). Here, we report a family of Rajasthan, West India which had a proband (son) having HbE/ β-thalassaemia a co-inherited compound heterozygosity as revealed by DNA sequencing...
September 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/29206494/prenatal-diagnosis-of-twin-fetuses-with-a-novel-ar-gene-mutation-in-a-chinese-family-of-complete-androgen-insensitivity-syndrome
#16
Weiqing Wu, Qian Geng, Yang Liu, Zhiyong Xu, Peining Li, Jiansheng Xie
INTRODUCTION AND AIMS: Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disorder caused by mutations in the androgen receptor (AR) gene. Only a few cases of AIS with AR gene mutations have been diagnosed prenatally. This study aimed to investigate the gene mutation in a Chinese complete androgen insensitivity syndrome family and perform prenatal diagnosis for twin fetuses. CASE REPORT: We evaluated the AR gene of the child proband in a Chinese CAIS family, and detected a novel mutation c...
December 5, 2017: Fetal and Pediatric Pathology
https://www.readbyqxmd.com/read/29205694/fetal-sex-discordance-in-a-monochorionic-twin-pregnancy-following-intracytoplasmic-sperm-injection-a-case-report-of-chimerism-and-review-of-the-literature
#17
Nihal Ş Uysal, Çağrı Gülümser, Zerrin Y Çelik, Hulusi B Zeyneloğlu, Filiz F B Yanık
A 39-year-old woman who became pregnant with twins after an intracytoplasmic sperm injection was referred at the ninth gestational week to determine chorionicity. Ultrasonographic examination showed a monochorionic diamniotic twin pregnancy. First trimester nuchal translucency measurements of the fetuses were 1.6 and 2.7 mm. A non-invasive prenatal test was performed and revealed low risk. One fetus appeared to be female and the other male at the 14th gestational week. Second trimester anatomic scanning results were otherwise normal for both fetuses...
December 3, 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/29205599/postnatal-separation-prevents-the-development-of-prenatal-stress-induced-anxiety-in-association-with-changes-in-estrogen-receptor-and-oxytocin-immunoreactivity-in-female-mandarin-vole-microtus-mandarinus-offspring
#18
Fengqin He, Zijian Wang, Guanlin Guo
Estrogen has both anxiogenic and anxiolytic effects because of variation in opposing action on alpha (ERα) and beta (ERβ) estrogen receptors in the medial preoptic area (mPOA), bed nucleus of the stria terminalis (BNST) and medial amygdala (MeA). Oxytocin (OT) reverses some of the anxiogenic effects of estrogen in the hypothalamic paraventricular nucleus (PVN) and supraoptic nucleus (SON). Because anxiety disorders are twice as common in women as in men, and estrogen and OT are more important in females, we examined interactions between prenatal restraint stress (GS) and postnatal early short-term maternal separation (MS) and female mandarin vole behavior, estrogen receptors and OT...
December 4, 2017: European Journal of Neuroscience
https://www.readbyqxmd.com/read/29203227/behaviour-of-adult-5-ht1a-receptor-knockout-mice-exposed-to-stress-during-prenatal-development
#19
Veronika Kiryanova, Victoria M Smith, Michael C Antle, Richard H Dyck
Chronic maternal stress during pregnancy can have long-term, detrimental consequences for the offspring. An understanding of the mechanisms responsible for mediating these effects is essential for devising therapeutic interventions. Here, we examined whether serotonin 1A receptor (5-HT1AR) mediates the effects of maternal stress on the behavioural outcomes of the offspring as adults. Heterozygous (HET) mouse dams were bred with HET males and were randomly assigned to stress or control groups. Pregnant dams in the stress group were exposed to a regime of chronic unpredictable stress from embryonic day 7 to 18...
December 1, 2017: Neuroscience
https://www.readbyqxmd.com/read/29203053/insulin-like-growth-factor-1-mediates-adrenal-development-dysfunction-in-offspring-rats-induced-by-prenatal-food-restriction
#20
Zheng He, Feng Lv, Yufeng Ding, Chunyan Zhu, Hegui Huang, Li Zhang, Yu Guo, Hui Wang
BACKGROUND: Our previous study demonstrated that prenatal food restriction (PFR) could induce the dysfunction of the hypothalamic-pituitary-adrenal axis and glucocorticoid-related glucose and lipid metabolic alterations in adult offspring rats. AIM OF THE STUDY: To investigate the intrauterine programming mechanism of adrenal dysfunction in the PFR offspring rats. METHODS: From gestational days (GDs) 11-20, pregnant Wistar rats were fed a restricted diet (50% of the daily food intake of control rats, 60 g/kg·d)...
December 1, 2017: Archives of Medical Research
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