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"Prenatal Screening"

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https://www.readbyqxmd.com/read/28453864/impact-on-spina-bifida-screening-of-shifting-prenatal-down-syndrome-maternal-serum-screening-from-the-second-trimester-to-the-first
#1
Emmanuel Spaggiari, Sophie Dreux, Julien J Stirnemann, Isabelle Czerkiewicz, Véronique Houfflin-Debarge, Alexandra Segonne, Jean-Marie Jouannic, Yves Ville, Francoise Muller
OBJECTIVES: Shifting screening for trisomy 21 to the first trimester has resulted in the loss of MSAFP screening for spina bifida. The aim of this study was to study the impact on open spina bifida prenatal screening. STUDY DESIGN: We reviewed prenatally diagnosed cases of spina bifida over three years: 2009 (only second-trimester screening, MSM2T), 2010 (transient period) and 2011 (majority first-trimester screening, MSM1T). Cases were assigned to three groups based on maternal serum markers (MSM2T, MSM1T and "not performed")...
April 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28436632/-localization-of-gestational-age-reference-table-and-its-application-in-prenatal-screening
#2
Linlin Dou, Guohui Yang, Weiming Mo
Objective: To establish a fetal biparietal diameter (BPD)-gestational age formula based on the data of pregnant women from Xiaoshan District of Hangzhou, and to evaluate its application in prenatal screening. Methods: Data of 3500 pregnant women with gestational age between 15 weeks and 19 weeks+6 receiving prenatal screening in Xiaoshan Hospital during May 2014 and May 2015 were collected. BPDs were used to establish a localized BPD-gestational age formula. The localized formula was used to evaluate the prenatal screening risks in 1759 pregnant women with irregular menstrual cycles or uncertain last menstrual period (LMP) in Xiaoshan District, and the results were compared with those calculated using formula in LifeCycle 4...
January 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#3
Francesco Fiorentino, Sara Bono, Francesca Pizzuti, Sara Duca, Arianna Polverari, Monica Faieta, Marina Baldi, Laura Diano, Francesca Spinella
OBJECTIVE: In this study, we expanded conventional cell-free fetal DNA(cfDNA)-based non-invasive prenatal testing(NIPT) to cover the entire genome. We aimed to compare the performance of the two test in a large general population of pregnant women, in order to assess the clinical utility of the genome-wide screening. METHOD: Genome-wide cfDNA analysis was offered to 12.114 pregnant women undergoing NIPT for common fetal aneuploidy. Sequencing data were analyzed using an algorithm optimized to identify aneuploidies and subchromosomal aberrations...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28416208/fetal-and-perinatal-stem-cells-in-cardiac-regeneration-moving-forward-to-the-paracrine-era
#4
C Balbi, S Bollini
Cardiovascular disease (CD) is a major burden for Western society. Regenerative medicine has provided encouraging results, yet it has not addressed the focal defects causing CD and mainly related to the inefficient repair programme of the heart. In this scenario, stem cells have been broadly investigated and their paracrine effect proposed as a possible working strategy to boost endogenous mechanisms of repair and regeneration from within the cardiac tissue. The scientific community is now focusing on identifying the most effective stem cell secretome, as the whole of bioactive factors and extracellular vesicles secreted by stem cells and endowed with regenerative potential...
April 12, 2017: Placenta
https://www.readbyqxmd.com/read/28411096/-seroprevalence-and-vertical-transmission-of-chagas-disease-in-a-cohort-of-latin-american-pregnant-women-in-a-tertiary-hospital-in-madrid
#5
Laura Francisco-González, Teresa Gastañaga-Holguera, Beatriz Jiménez Montero, Zarife Daoud Pérez, Marta Illán Ramos, Paloma Merino Amador, Miguel Ángel Herráiz Martínez, José Tomás Ramos Amador
BACKGROUND: Chagas disease, caused by Trypanosoma cruzi (T. cruzi), is endemic in Latin-America and is emerging in Spain due to immigration. The vertical transmission rate is around 5%. A routine prenatal screening with serology of all pregnant women from endemic areas is recommended to identify infected newborns, allowing early treatment and cure. OBJECTIVE: The aim of this study was to estimate the prevalence of positive Chagas serology in a cohort of pregnant women from Latin-America and its vertical transmission...
April 12, 2017: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/28406537/non-invasive-prenatal-screening-versus-prenatal-diagnosis-by-array-comparative-genomic-hybridization-a-comparative-retrospective-study
#6
Alexandros Sotiriadis, Ioannis Papoulidis, Elisavet Siomou, Elena Papageorgiou, Makarios Eleftheriades, Vasilios Papadopoulos, Maria Alexiou, Emmanouil Manolakos, Apostolos Athanasiadis
OBJECTIVE: To calculate the proportion of array comparative genomic hybridization (aCGH) pathogenic results, that would not be detectable by non-invasive prenatal screening (NIPS). METHODS: This is a comparative study using data from 2,779 fetuses, which underwent invasive prenatal diagnosis and the samples were analyzed using aCGH. The simulated NIPS assay would test for trisomies 21, 18, 13, monosomy X, 47,XXX, 47,XYY and 47,XXY. Indications for invasive testing were grouped into categories and the absolute, relative rates of pathogenic/likely pathogenic results of aCGH analysis that would not be detectable by NIPS, were calculated...
April 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28397229/-prenatal-diagnosis-of-a-rare-case-of-7q11-23-duplication-syndrome
#7
Guangjuan Ma, Yulin Jiang, Zhen Yu, Wencheng Dai, Ning Liu, Huijun Li, Gulinazi Mijiti
OBJECTIVE: To explore the application of combined techniques for the prenatal diagnosis of a case with 7q11.23 duplication. METHODS: Amniocentesis was performed in the second trimester for a mother with a high risk suggested by serological prenatal screening. G-banded chromosomal analysis was performed on cultured amniocytes and peripheral blood samples from both parents. DNA from amniotic fluid sample was isolated for a BACs-on-Beads (BoBs) assay. To define the range of duplication, copy number variation was determined with single nucleotide polymorphism array (SNP array, Affymetrix CytoScan 750K) and fluorescence in situ hybridization (FISH) analysis...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28395421/-research-on-the-correlation-and-regulation-of-bone-metabolism-related-biochemical-indexes-in-different-gestational-ages
#8
X H Xi, X L Guo, J R Zhang, R Su, T T Ma, J M Ma, L X Wang
Objective: To investigate the correlation and metabolic characteristics of the growth hormone (GH) and other bone metabolism related biochemical markers in pregnancy women serum. Methods: Determination of GH, 25 hydroxy vitamin D(25(OH)D), osteocalcin n-terminal fragments (N-MID), total propeptide of type 1 procollagen (TP1NP) and alkaline phosphatase (ALP) levels in different gestation women serum, the experimental group involving 75 cases of early pregnancy women(11-14 weeks), 135 cases of pregnancy women(15-21 weeks), 62 cases of late pregnancy women(31-40 weeks) and 28 cases of postpartum women(1-3 days)...
April 4, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28392734/proficiency-testing-of-maternal-serum-prenatal-screening-in-second-trimester-in-china-2015
#9
Xiaoyan Zhang, Wei Wang, Falin He, Kun Zhong, Shuai Yuan, Zhiguo Wang
INTRODUCTION: Prenatal screening and diagnosis is important for the detection of birth defects and genetic diseases. The nationwide proficiency testing (PT) of maternal serum prenatal screening in second trimester in China has been launched since 2003 and partly reflected the performance of screening laboratories. This study analysed the 2015 PT results to examine the performance of clinical laboratories and different platforms. MATERIALS AND METHODS: Fifteen lyophilized samples with different concentrations divided into three panels, were distributed to 613 clinical laboratories in 2015...
February 15, 2017: Biochemia Medica: časopis Hrvatskoga Društva Medicinskih Biokemičara
https://www.readbyqxmd.com/read/28388340/offering-prenatal-screening-in-the-age-of-genomic-medicine-a-practical-guide
#10
Megan Allyse, Umut Aypar, Natasha Bonhomme, Sandra Darilek, Michael Dougherty, Ruth Farrell, Wayne Grody, W Edward Highsmith, Marsha Michie, Mark Nunes, Laura Otto, Rebecca Pabst, Glenn Palomaki, Cassandra Runke, Richard R Sharp, Brian Skotko, Katie Stoll, Myra Wick
AIMS: In September, 2015, Mayo Clinic convened a panel of national thought leaders on prenatal screening, medical genetics, and obstetrics and gynecology practice. RESULTS: During the 2-day symposium, participants discussed the implications of the shift toward broader prenatal screening using cell-free placental DNA in maternal serum (cfDNA screening). Key topics included challenges around the pace of change in the prenatal screening market, uncertainty around reimbursement, meeting the need for patient counseling, and potential challenges in interpreting and returning cfDNA screening results...
April 7, 2017: Journal of Women's Health
https://www.readbyqxmd.com/read/28387201/challenges-in-prenatal-screening-and-counselling-for-fragile-x-syndrome
#11
EDITORIAL
A Sl Mak, K Y Leung
No abstract text is available yet for this article.
April 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28386951/neonatal-characteristics-and-perinatal-complications-in-neonates-with-down-syndrome
#12
Zivanit Ergaz-Shaltiel, Offra Engel, Ira Erlichman, Yaron Naveh, Michael S Schimmel, Ariel Tenenbaum
The annual rate of Down syndrome (DS) births in Jerusalem is stable, regardless of prenatal screening, and diagnostic measures. We aimed to evaluate our historical cohort for obstetrical characteristics and the neonatal course and complications. We reviewed computerized medical files of neonates with the diagnosis of DS born in the four main hospitals in Jerusalem between the years 2000 and 2010 and evaluated for maternal history and primary neonatal hospitalization. A total of 403 neonates were diagnosed with DS...
April 6, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28386676/attitudes-and-beliefs-among-high-and-low-risk-population-groups-towards-%C3%AE-thalassemia-prevention-a-cross-sectional-descriptive-study-from-india
#13
Swati Chawla, Rajnish Kumar Singh, Bhaskar V K S Lakkakula, Raghavendra Rao Vadlamudi
β-thalassemia is an autosomal recessive blood disorder caused by gene mutations that affect all aspects of β-globin production. In majority of Asian countries including India, the frequency of β-thalassemia is closely intertwined with social, cultural, and religious issues of the respective country. Several national level screening programs imparted education regarding β-thalassemia, but follow-up evaluation revealed that education was not effective. It has been hypothesized that the beliefs and attitudes, carrier screening, and education among "high risk communities" will have far-reaching implications towards β-thalassemia prevention in the country...
April 6, 2017: Journal of Community Genetics
https://www.readbyqxmd.com/read/28384180/silent-dissemination-of-htlv-1-in-an-endemic-area-of-argentina-epidemiological-and-molecular-evidence-of-intrafamilial-transmission
#14
María C Frutos, Rene Gastaldello, Marcos Balangero, Carlos Remondegui, Sebastián Blanco, Koko Otsuki, Ana Carolina Paulo Vicente, David Elías, Arnaldo Mangeaud, Silvia Nates, Sandra Gallego
BACKGROUND: Molecular and epidemiological studies of transmission routes and risk factors for infection by HTLV-1 are extremely important in order to implement control measures, especially because of the high prevalence of HTLV-1 in several regions of the world. San Salvador de Jujuy, Northwest Argentina, is a highly endemic area for HTLV-1 and foci of tropical spastic paraparesis/HTLV-1-associated myelopathy. OBJECTIVE: To gain further insight into the role of intrafamilial transmission of HTLV-1 in a highly endemic region in Argentina...
2017: PloS One
https://www.readbyqxmd.com/read/28374951/newborn-screening-for-spinal-muscular-atrophy-the-views-of-affected-families-and-adults
#15
Felicity K Boardman, Philip J Young, Frances E Griffiths
Spinal muscular atrophy (SMA) is one of the leading genetic causes of infant death worldwide. However, due to a lack of treatments, SMA has historically fallen short of Wilson-Jungner criteria. While studies have explored the acceptability of expanded newborn screening to the general public, the views of affected families have been largely overlooked. This is in spite of the potential for direct impacts on them and their unique positioning to consider the value of early diagnosis. We have previously reported data on attitudes toward pre-conception and prenatal genetic screening for SMA among affected families (adults with SMA [n = 82] and family members [n = 255])...
April 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28369759/diagnostic-performance-and-costs-of-contingent-screening-models-for-trisomy-21-incorporating-non-invasive-prenatal-testing
#16
Susannah Maxwell, Peter O'Leary, Jan E Dickinson, Graeme K Suthers
BACKGROUND: Contingent screening for trisomy 21 using non-invasive prenatal testing has the potential to reduce invasive diagnostic testing and increase the detection of trisomy 21. AIM: To describe the diagnostic and economic performance of prenatal screening models for trisomy 21 that use non-invasive prenatal testing as a contingent screen across a range of combined first trimester screening risk cut-offs from a public health system perspective. METHODS: Using a hypothetical cohort of 300 000 pregnancies, we modelled the outcomes of 25 contingent non-invasive prenatal testing screening models and compared these to conventional screening, offering women with a high-risk (1 > 300) combined first trimester screening result an invasive test...
March 29, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28361595/the-molecular-spectrum-of-%C3%AE-and-%C3%AE-thalassemia-mutations-in-non-endemic-umbria-central-italy
#17
Paolo Gorello, Francesco Arcioni, Antonietta Palmieri, Ylenia Barbanera, Laura Ceccuzzi, Cecilia Adami, Mauro Marchesi, Antonella Angius, Olivia Minelli, Marina Onorato, Antonio Piga, Maurizio Caniglia, Cristina Mecucci, Antonella Roetto
The aim of this study was to describe the mutational spectrum of hemoglobinopathies during the period 1988-2015 in Umbria, Central Italy, which has never been considered endemic for these conditions. Twenty-four different β-globin gene mutations were identified in 188 patients and eight different α-globin gene mutations in 74 patients. Sixty percent β-thalassemia (β-thal), 85.0% sickle cell disease, 44.0% Hb S (HBB: c.20A>T)/β-thal and 85.0% compound heterozygotes for hemoglobin (Hb) variant-carrying patients were diagnosed or molecularly characterized in the last 3 years...
November 2016: Hemoglobin
https://www.readbyqxmd.com/read/28359096/early-maternal-thyroid-function-during-gestation-is-associated-with-fetal-growth-particularly-in-male-newborns
#18
Tanja G M Vrijkotte, E Jessica Hrudey, Marcel B Twickler
Background: Intrauterine growth patterns are influenced by maternal thyroid function during gestation and by fetal sex. It is unknown, however, whether the relationships between maternal thyrotropin (TSH) and free thyroxine (fT4) levels in early pregnancy and fetal growth outcomes are modified by fetal sex. Design: Data were obtained from a community-based cohort study of pregnant women living in Amsterdam (Amsterdam Born Children and Their Development study). TSH and fT4 levels were determined during the first prenatal screening at median 13 weeks (interquartile range, 12 to 14)...
March 1, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28357876/noninvasive-prenatal-screening-for-fetal-common-sex-chromosome-aneuploidies-from-maternal-blood
#19
Bin Zhang, Bei-Yi Lu, Bin Yu, Fang-Xiu Zheng, Qin Zhou, Ying-Ping Chen, Xiao-Qing Zhang
Objective To explore the feasibility of high-throughput massively parallel genomic DNA sequencing technology for the noninvasive prenatal detection of fetal sex chromosome aneuploidies (SCAs). Methods The study enrolled pregnant women who were prepared to undergo noninvasive prenatal testing (NIPT) in the second trimester. Cell-free fetal DNA (cffDNA) was extracted from the mother's peripheral venous blood and a high-throughput sequencing procedure was undertaken. Patients identified as having pregnancies associated with SCAs were offered prenatal fetal chromosomal karyotyping...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28357616/prenatal-screening-for-chromosomal-abnormalities-in-ivf-patients-that-opted-for-preimplantation-genetic-screening-diagnosis-pgs-d-a-need-for-revised-algorithms-in-the-era-of-personalized-medicine
#20
Afua Takyi, Joaquin Santolaya-Forgas
Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients...
March 29, 2017: Journal of Assisted Reproduction and Genetics
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