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Prenatal screening

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https://www.readbyqxmd.com/read/28445705/mutation-characterization-and-heterodimer-analysis-of-patients-with-leukocyte-adhesion-deficiency-including-one-novel-mutation
#1
Shahram Teimourian, Martin De Boer, Dirk Roos, Anna Isaian, Ehsan Moghanloo, Sharhzad Lashkary, Bita Hassani, Hasan Mollanoori, Vahid Babaei, Asaad Azarnezhad
BACKGROUND AND AIM: Leukocyte adhesion deficiency type 1 (LAD-I) is a rare, autosomal recessive disorder of neutrophil migration, characterized by severe, recurrent bacterial infections, inadequate pus formation and impaired wound healing. The ITGB2 gene encodes the β2 integrin subunit (CD18) of the leukocyte adhesion cell molecules, and mutations in this gene cause LAD-I. The aim of the current study was to investigate the mutations in patients diagnosed with LAD-I and functional studies of the impact of two previously reported and a novel mutation on the expression of the CD18/CD11a heterodimer...
April 23, 2017: Immunology Letters
https://www.readbyqxmd.com/read/28444286/screening-for-preeclampsia-us-preventive-services-task-force-recommendation-statement
#2
Kirsten Bibbins-Domingo, David C Grossman, Susan J Curry, Michael J Barry, Karina W Davidson, Chyke A Doubeni, John W Epling, Alex R Kemper, Alex H Krist, Ann E Kurth, C Seth Landefeld, Carol M Mangione, William R Phillips, Maureen G Phipps, Michael Silverstein, Melissa A Simon, Chien-Wen Tseng
Importance: Preeclampsia affects approximately 4% of pregnancies in the United States. It is the second leading cause of maternal mortality worldwide and may lead to serious maternal complications, including stroke, eclampsia, and organ failure. Adverse perinatal outcomes for the fetus and newborn include intrauterine growth restriction, low birth weight, and stillbirth. Many of the complications associated with preeclampsia lead to early induction of labor or cesarean delivery and subsequent preterm birth...
April 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28444285/preeclampsia-screening-evidence-report-and-systematic-review-for-the-us-preventive-services-task-force
#3
Jillian T Henderson, Jamie H Thompson, Brittany U Burda, Amy Cantor
Importance: Preeclampsia is a complex disease of pregnancy with sometimes serious effects on maternal and infant morbidity and mortality. It is defined by hypertension after 20 weeks' gestation and proteinuria or other evidence of multisystem involvement. Objective: To systematically review the benefits and harms of preeclampsia screening and risk assessment for the US Preventive Services Task Force. Data Sources: MEDLINE, PubMed, and Cochrane Central Register of Controlled Trials databases from 1990 through September 1, 2015...
April 25, 2017: JAMA: the Journal of the American Medical Association
https://www.readbyqxmd.com/read/28441821/-assessment-of-undiagnosed-critical-congenital-heart-disease-before-discharge-from-the-maternity-hospital
#4
Q M Zhao, F Liu, L Wu, M Ye, B Jia, X J Ma, G Y Huang
Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery...
April 2, 2017: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
https://www.readbyqxmd.com/read/28437855/mild-fetal-cerebral-ventriculomegaly-prevalence-characteristics-and-utility-of-ancillary-testing-in-cases-presenting-to-a-tertiary-referral-center
#5
Alison J Mehlhorn, Cara E Morin, Jade J Wong-You-Cheong, Stephen A Contag
OBJECTIVE: Ventriculomegaly is the most common fetal brain anomaly identified during prenatal anatomy ultrasound. The aim of our study was to characterize cases of mild ventriculomegaly and investigate the utility of ancillary tests. METHOD: We reviewed 121 cases of mild ventriculomegaly, defined as lateral ventricle diameter of 10-15 mm. Characteristics of the ventricular dilation as well as each pregnancy were investigated. Ancillary tests performed included follow-up MRI, chromosomal abnormality testing, and maternal serologic infection screening...
April 24, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28436632/-localization-of-gestational-age-reference-table-and-its-application-in-prenatal-screening
#6
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/28436133/population-trends-in-prenatal-detection-of-transposition-of-great-arteries-impact-of-obstetrical-screening-ultrasound-guidelines
#7
Ravi Prasad, Mills Lindsay, Fruitman Deborah, Savard Winnie, Colen Timothy, Khoo Nee, Serrano-Lomelin Jesus, Hornberger Lisa K
BACKGROUND: D-transposition of the great arteries (D-TGA) is one of the most common critical neonatal heart defects. Although there are clinical advantages to a prenatal diagnosis, D-TGA has had low prenatal detection internationally. Recent obstetrical ultrasound guidelines incorporating screening of cardiac outflows may improve prenatal detection of D-TGA. We sought to evaluate trends in the prenatal detection of D-TGA with/without ventricular septal defect (VSD) in Alberta over the past 13 years, examining the potential impact of enhanced ultrasound guidelines in 2009-2010 and 2013 and factors impacting detection...
April 24, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28433574/serodiagnosis-of-toxoplasmosis-the-effect-of-measurement-of-igg-avidity-in-pregnant-women-in-rabat-in-morocco
#8
Majda Laboudi, Abderrahim Sadak
BACKGROUND: The diagnosis of toxoplasmosis in pregnant women during the early first trimester of pregnancy is very important for preventing congenital infection of the fetus; it will not only prevent the risk of transmitting the infection to the fetus but it will also enable to give these women a preventive treatment. In this study, the avidity test was performed on pregnant women during their first prenatal visit at the National Institute of Hygiene in Rabat, Morocco. FINDINGS: One hundred and twenty-eight sera samples were collected from 128 pregnant women between august 2015 and June 2016; these women were chosen retrospectively and were in their first 4 months of pregnancy...
April 19, 2017: Acta Tropica
https://www.readbyqxmd.com/read/28429869/importance-of-prenatal-care-in-reducing-stillbirth
#9
Robert L Goldenberg, Elizabeth M McClure
The concept of screening for complications prior to delivery originated more than 100 years ago. Initially, prenatal care focused on detecting preeclampsia to reduce maternal mortality with visits weighted toward the third trimester. This, together with increasing hospitalization and early delivery for women with preeclampsia, markedly reduced maternal mortality and reduced stillbirths as well. This article is protected by copyright. All rights reserved.
April 21, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28428000/selected-oxidative-stress-biomarkers-in-antenatal-diagnosis-as-11-14-gestational-weeks
#10
Marek Pietryga, Piotr Dydowicz, Kinga Toboła, Marta Napierała, Izabela Miechowicz, Anna Gąsiorowska, Maciej Brązert, Ewa Florek
The primary objective in modern obstetrics and prenatal diagnosis is to predict risks of congenital abnormalities. The aim of the research was to assess the correlation between selected oxidative stress biomarkers with the risk of foetal chromosomal aberration evaluated at the first trimester screening. A series of studies show that balanced free radical activity and oxidative homeostasis are essential for proper bodily growth and function. Reactive oxygen species (ROS) may be one of the factors associated with disruption of cell cycle and tissue development, thus leading to developmental abnormalities...
April 17, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28426306/machine-learning-for-social-services-a-study-of-prenatal-case-management-in-illinois
#11
Ian Pan, Laura B Nolan, Rashida R Brown, Romana Khan, Paul van der Boor, Daniel G Harris, Rayid Ghani
OBJECTIVES: To evaluate the positive predictive value of machine learning algorithms for early assessment of adverse birth risk among pregnant women as a means of improving the allocation of social services. METHODS: We used administrative data for 6457 women collected by the Illinois Department of Human Services from July 2014 to May 2015 to develop a machine learning model for adverse birth prediction and improve upon the existing paper-based risk assessment. We compared different models and determined the strongest predictors of adverse birth outcomes using positive predictive value as the metric for selection...
April 20, 2017: American Journal of Public Health
https://www.readbyqxmd.com/read/28423190/the-clinical-utility-of-genome-wide-non-invasive-prenatal-screening
#12
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/28419568/the-influence-of-noninvasive-prenatal-testing-on-gestational-age-at-time-of-abortion-for-aneuploidy
#13
Sarah C Lassey, Emily S Reiff, Lori Dobson, Bryann Bromley, Louise Wilkins-Haug, Deborah Bartz, Sarah E Little
OBJECTIVE: 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/28419502/nuchal-translucency-measurement-free-%C3%AE-hcg-and-papp-a-concentrations-in-ivf-icsi-pregnancies-systematic-review-and-meta-analysis
#14
REVIEW
Paolo Cavoretto, Veronica Giorgione, Sonia Cipriani, Paola Viganò, Massimo Candiani, Annalisa Inversetti, Elena Ricci, Fabio Parazzini
So far data on the effect of assisted reproductive technologies (ART) on the components of first trimester combined screening for Down syndrome are still controversial. A systematic search of the literature was performed in order to identify the effect of ART, particularly IVF and ICSI with fresh embryo transfer, on the nuchal translucency (NT), free β-hCG and PAPP-A measurements. Moreover, a meta-analysis and a descriptive graphical representation of the ratios between ART and spontaneous pregnancies (controls) values of median of the multiple of median (m0MOM) was performed...
April 17, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28418571/risk-for-autism-spectrum-disorders-according-to-period-of-prenatal-antidepressant-exposure-a-systematic-review-and-meta-analysis
#15
Antonia Mezzacappa, Pierre-Alexandre Lasica, Francesco Gianfagna, Odile Cazas, Patrick Hardy, Bruno Falissard, Anne-Laure Sutter-Dallay, Florence Gressier
Importance: Several studies have examined the links between prenatal exposure to antidepressants and autism spectrum disorders (ASDs) in children, with inconsistent results, especially regarding the impact of the trimester of exposure. Objective: To perform a systematic review of the literature and a meta-analysis of published studies to assess the association between ASDs and fetal exposure to antidepressants during pregnancy for each trimester of pregnancy and preconception...
April 17, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28416208/fetal-and-perinatal-stem-cells-in-cardiac-regeneration-moving-forward-to-the-paracrine-era
#16
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/28415763/low-numbers-of-pre-leukemic-fusion-genes-are-frequently-present-in-umbilical-cord-blood-without-affecting-dna-damage-response
#17
Pavol Kosik, Milan Skorvaga, Matus Durdik, Lukas Jakl, Ekaterina Nikitina, Eva Markova, Katarina Kozics, Eva Horvathova, Igor Belyaev
Despite widely accepted notion that many childhood leukemias are likely developed from hematopoietic stem/progenitor cells (HSPC) with pre-leukemic fusion genes (PFG) formed in embryonic/fetal development, the data on PFG incidence in newborns are contradictive. To provide a better understanding of a prenatal origin of leukemia, umbilical cord blood from 500 newborns was screened for the presence of the most frequent PFG associated with pediatric B-cell acute lymphoblastic leukemia. This screening revealed relatively high incidence of ETV6-RUNX1, BCR-ABL1 (p190) and MLL-AF4 at very low frequencies, averaging ~14 copies per 100,000 cells...
March 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28414088/embryonic-vascular-disruption-adverse-outcomes-linking-high-throughput-signaling-signatures-with-functional-consequences
#18
Robert G Ellis-Hutchings, Raja S Settivari, Alene T McCoy, Nicole Kleinstreuer, Jill Franzosa, Thomas B Knudsen, Edward W Carney
Embryonic vascular disruption is an important adverse outcome pathway (AOP) as chemical disruption of cardiovascular development induces broad prenatal defects. High-throughput screening (HTS) assays aid AOP development although linking in vitro data to in vivo apical endpoints remains challenging. This study evaluated two anti-angiogenic agents, 5HPP-33 and TNP-470, across the ToxCastDB HTS assay platform and anchored the results to complex in vitro functional assays: the rat aortic explant assay (AEA), rat whole embryo culture (WEC), and the zebrafish embryotoxicity (ZET) assay...
April 13, 2017: Reproductive Toxicology
https://www.readbyqxmd.com/read/28413694/first-neonatal-demise-with-travel-associated-zika-virus-infection-in-the-united-states-of-america
#19
Nikolaos Zacharias, Janice Whitty, Sarah Noblin, Sophia Tsakiri, Jose Garcia, Michael Covinsky, Meenakshi Bhattacharjee, David Saulino, Nina Tatevian, Sean Blackwell
Zika virus is increasingly recognized as a fetal pathogen worldwide. We describe the first case of neonatal demise with travel-associated Zika virus infection in the United States of America, including a novel prenatal ultrasound finding. A young Latina presented to our health care system in Southeast Texas for prenatal care at 23 weeks of gestation. Fetal Dandy-Walker malformation, asymmetric cerebral ventriculomegaly, single umbilical artery, hypoechoic fetal knee, dorsal foot edema, and mild polyhydramnios were noted upon initial screening prenatal sonography at 26 weeks...
April 2017: American Journal of Perinatology Reports
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
#20
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.)
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