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"Prenatal Screening"

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https://www.readbyqxmd.com/read/28645293/prenatal-screening-of-fetal-ventriculoarterial-connections-benefits-of-4d-technique-in-fetal-heart-imaging
#1
Yu Wang, Miao Fan, Faiza Amber Siddiqui, Meilian Wang, Wei Sun, Xue Sun, Wenjia Lei, Ying Zhang
BACKGROUND: Identification of prenatal ventriculoarterial connections in fetuses with conotruncal anomalies (CTA) remains one of the greatest challenges for sonographers performing screening examinations. Herein, we propose a novel protocol of 4D volume analysis that identifies ventriculoarterial connections and evaluate its clinical utility in routine screenings. METHODS: Twenty-nine cases of transposition of the great arteries (TGA), 22 cases of double-outlet right ventricle (DORV), 36 cases of tetralogy of Fallot (TOF), 14 cases of truncus arteriosus (TCA), and randomly selected 70 normal fetuses were reviewed in this study...
June 23, 2017: Cardiovascular Ultrasound
https://www.readbyqxmd.com/read/28640799/screening-for-syphilis-and-other-sexually-transmitted-infections-in-pregnant-women-guam-2014
#2
Susan Cha, Tasneem Malik, Winston E Abara, Mia S DeSimone, Bernadette Schumann, Esther Mallada, Michael Klemme, Vince Aguon, Anne Marie Santos, Thomas A Peterman, Gail Bolan, Mary L Kamb
Prenatal screening and treatment for sexually transmitted infections (STIs) can prevent adverse perinatal outcomes. In Guam, the largest of the three U.S. territories in the Pacific, primary and secondary syphilis rates among women increased 473%, from 1.1 to 6.3 per 100,000 during 2009-2013 (1). In 2013, the first congenital syphilis case after no cases since 2008 was reported (1,2). Little is known about STI screening coverage and factors associated with inadequate screening among pregnant women in Guam. This study evaluated the prevalence of screening for syphilis, human immunodeficiency virus (HIV), chlamydia, and gonorrhea, and examined correlates of inadequate screening among pregnant women in Guam...
June 23, 2017: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/28624447/enhanced-first-trimester-screening-for-trisomy-21-with-contingent-cell-free-fetal-dna-a-comparative-performance-and-cost-analysis
#3
Tianhua Huang, Wendy S Meschino, Mari Teitelbaum, Shelley Dougan, Nan Okun
OBJECTIVE: Prenatal screening for trisomy 21 is a standard of care. Emerging cell-free fetal DNA (cffDNA) technologies can improve screening performance, but they are expensive. This study was conducted to propose a contingent screening model that would incorporate cffDNA technology, would remain affordable, and could be applied equitably in a publically funded system. METHODS: Using performance and cost parameters from published literature, four prenatal screening strategies were compared...
June 14, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28621806/inequalities-in-uptake-of-prenatal-screening-according-to-ethnicity-and-socio-economic-status-in-the-four-largest-cities-of-the-netherlands-2011-2013
#4
Anke G Posthumus, Ingrid A Peters, Gerard J Borsboom, Maarten F C M Knapen, Gouke J Bonsel
OBJECTIVES: In the Netherlands, all women are claimed to have equal access to prenatal screening (PS). Prior research demonstrated substantial inequalities in PS uptake associated with socioeconomic status (SES) and ethnic background. The suggested pathway was a lack of intention to participate in PS among these subgroups. We studied the background of inequalities in PS participation, challenging intention heterogeneity as the single explanation. METHODS: Multivariable logistic regression analyses of the national PS registry, focusing on the four largest cities in the Netherlands (n= 4578, years 2011-2013), stratified by SES...
June 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28617944/inequity-in-timing-of-prenatal-screening-in-new-zealand-who-are-our-most-vulnerable
#5
Olivia Payne, Avinesh Pillai, Michelle Wise, Peter Stone
BACKGROUND: In New Zealand (NZ), Maori and Pacific women are less likely to complete prenatal screening for Down's syndrome and other aneuploidies than other ethnic groups. Young women <20 have low rates of completed screening compared with women >20 years. Women living in deprived areas have lower completed screen rates than women living in more affluent areas. Combined first trimester screening has a superior sensitivity (85%) compared with second trimester screening (75%) for trisomy 21...
June 15, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#6
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28614867/indications-for-invasive-prenatal-testing-before-and-after-noninvasive-prenatal-screening
#7
Lisa A Gill, Tracy L Prosen
No abstract text is available yet for this article.
June 14, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28614251/analysis-of-down-syndrome-failed-to-be-diagnosed-after-prenatal-screening-a-multicenter-study
#8
Tao Jiang, Jie Ding, Xiao-Qing Zhang, Xiao-Juan Zhang, Bin Zhang, Ting Wang, Bin Yu
To analyze the characters of Down syndrome (DS) who failed to be diagnosed after prenatal screening and hope to be able to improve the programs of prenatal screening and reduce the missed diagnosis of DS. In this multicenter study, we collected the missed cases from 3 prenatal diagnosis centers and analyzed their characters. A total of 126 DS babies failed to be diagnosed after prenatal screening. Their mothers accepted the prenatal screening in second trimester. We collected the mothers' blood and detected the levels of alpha-fetoprotein (AFP) and the free beta subunit of human chorionic gonadotropin (fβhCG) by time-resolved fluoroimmunoassay...
June 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28611934/etiology-and-perinatal-outcome-of-nonimmune-hydrops-fetalis-in-southern-china
#9
Sheng He, Linlin Wang, Pingshan Pan, Hongwei Wei, Dahua Meng, Juan Du, Xiaoxian Tian, Chenguang Zheng, Xiaoxia Qiu, Guoyang Luo
Objective  This study aims to analyze the etiology and perinatal outcome of nonimmune hydrops fetalis (NIHF) in Southern China. Methods  All cases with NIHF diagnosed antenatally from January 1, 2007 to December 31, 2014 were identified and analyzed. Results  Total 482 cases of NIHF were identified during the study period. The most common cause of NIHF was hemoglobin (Hb) Bart's disease (61.8%), followed by chromosomal abnormalities (13.5%), idiopathic etiology (13.1%), cardiac abnormalities (6.4%), and others (5...
April 2017: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/28593553/prenatal-diagnosis-of-spina-bifida-from-intracranial-translucency-to-intrauterine-surgery
#10
Waldo Sepulveda, Amy E Wong, Francisco Sepulveda, Juan L Alcalde, Juan C Devoto, Felipe Otayza
Accurate and timely prenatal diagnosis of spina bifida (SB) is a major goal of modern antenatal care. Prenatal screening for open SB should be first performed at the time of routine first-trimester ultrasound by examining the posterior fossa for obliteration or non-visualization of the fourth ventricle ("intracranial translucency") and cisterna magna. The second step of screening is the second-trimester anatomy scan, at which time the features of the Chiari type II malformation should be looked for, including ventriculomegaly, scalloping of the frontal bones ("lemon" sign), and backward and caudal displacement of the cerebellar vermis with obliteration of the cisterna magna ("banana" sign)...
June 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28590945/addressing-the-global-zika-epidemic-locally-an-interprofessional-model-of-universal-screening-at-one-center
#11
Rosha N Forman, Pooja K Mehta, Kettie R Louis, Molly K Finneseth, Christina D Yarrington
Escalating evidence for the fetal impact of Zika virus infection required a change in care by all prenatal providers. This article describes an effective model of rapid implementation of universal prenatal screening at one hospital and its network of community health centers for a large and diverse immigrant population exploring the challenges, experiences, and lessons learned. Implementation of national recommendations required a workflow change, challenging a system with a heterogeneity of settings and providers...
June 6, 2017: Journal of Perinatal & Neonatal Nursing
https://www.readbyqxmd.com/read/28590048/educational-needs-of-nurses-to-provide-genetic-services-in-prenatal-care-a-cross-sectional-study-from-turkey
#12
Memnun Seven, Kafiye Eroglu, Aygül Akyüz, Charlotta Ingvoldstad
The latest advances in genetics/genomics have significantly impacted prenatal screening and diagnostic tests. This cross-sectional descriptive study was conducted in inpatient and outpatient obstetric clinics in 24 hospitals in Turkey to determine knowledge of genetics related to prenatal care and the educational needs of perinatal nurses. A total of 116 nurses working in these clinics agreed to participate. The results included the level of knowledge among nurses was not affected by sociodemographic factors...
June 7, 2017: Nursing & Health Sciences
https://www.readbyqxmd.com/read/28571229/role-of-echocardiography-in-prenatal-screening-of-congenital-heart-diseases-and-its-correlation-with-postnatal-outcome
#13
Shivani Sharma, Navkiran Kaur, Khushpreet Kaur, Naveen Chandrashekhar Pawar
INTRODUCTION: Congenital Heart Defects (CHDs) are one of the most common forms of congenital anomalies. Fetal echocardiography performed during second trimester aims at early diagnosis of congenital heart disease which is instrumental in proper planning of delivery, perinatal care and counselling of parents. AIM: To evaluate the role of fetal echocardiography in prenatal screening of CHDs and to study the role of associated extracardiac anomalies. MATERIALS AND METHODS: This was a hospital based prospective and correlative type of study, done over a period of one year...
April 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28568742/chromosome-copy-number-variants-in-fetuses-with-syndromic-malformations
#14
REVIEW
Huilin Wang, Matthew Hoi Kin Chau, Ye Cao, Ka Yin Kwok, Kwong Wai Choy
Chromosome copy number variants (CNVs; gains and losses of DNA sequences >1 kb) are wide-spread throughout the genome of healthy individuals. Laboratory studies show that a subset of CNVs are pathogenic, and not only can be responsible for the pathogenesis of major birth defects and cancer, but are also associated with neurodevelopmental disorders at birth. The characteristics of the pathogenic microdeletions and microduplications are important for both clinical implications and genetic counselling regarding test selection for prenatal screening and diagnosis...
June 1, 2017: Birth defects research
https://www.readbyqxmd.com/read/28565842/detection-of-trisomies-13-18-and-21-using-non-invasive-prenatal-testing
#15
Rong Qiang, Na Cai, Xiaobin Wang, Lin Wang, Ke Cui, Wei Wang, Xiang Wang, Xu Li
The clinical performance of non-invasive prenatal testing (NIPT) in the Down's syndrome screening based on 1,901 pregnant women in a Chinese hospital was investigated. This was a retrospective analysis of NIPT study in singleton pregnancy (n=1,901). The NIPT test is offered routinely as a prenatal screening test for common fetal aneuploidies, including trisomy 13 (T13), T18 and T21 to pregnant women with risk factors of one or more anomalies. Maternal peripheral blood (5 ml) was collected in an ethylenediaminetetraacetic acid (EDTA) tube at a gestational age of 12+0 to 32+6 weeks...
May 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28541280/a-quantitative-csmart-assay-for-noninvasive-prenatal-screening-of-autosomal-recessive-nonsyndromic-hearing-loss-caused-by-gjb2-and-slc26a4-mutations
#16
Mingyu Han, Zhifeng Li, Wenlu Wang, Shasha Huang, Yanping Lu, Zhiying Gao, Longxia Wang, Dongyang Kang, Linwei Li, Yiqian Liu, Mengnan Xu, David S Cram, Pu Dai
PurposeThe aim of this study was to assess the performance of a noninvasive prenatal screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for autosomal recessive nonsyndromic hearing loss (ARNSHL).MethodsA total of 80 pregnant couples carrying known mutations in either the GJB2 or SLC26A4 genes associated with a risk for ARNSHL were recruited to the study. Fetal amniocyte samples were genotyped by invasive prenatal screening (IPS), whereas the cell-free fetal DNA present in maternal plasma samples was genotyped using a novel NIPS method based on circulating single-molecule amplification and resequencing technology (cSMART)...
May 25, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28526191/aiding-risk-information-learning-through-simulated-experience-arise-using-simulated-outcomes-to-improve-understanding-of-conditional-probabilities-in-prenatal-down-syndrome-screening
#17
Pete Wegier, Victoria A Shaffer
OBJECTIVE: To determine whether the use of simulated experiences to communicate statistical information can improve an individual's understanding of conditional probabilities-specifically the positive predictive value (PPV) of prenatal screening tests for Down syndrome. METHODS: In Experiment 1 (N=64) and Experiment 2 (N=180) participants were asked to estimate the PPV of a prenatal screening test for Down syndrome based on either (1) explicit statistics regarding the prevalence of Down syndrome and the sensitivity and specificity of a prenatal screening test for Down syndrome, or (2) experiencing up to 5000 simulated test results over a short time...
April 26, 2017: Patient Education and Counseling
https://www.readbyqxmd.com/read/28521069/experiences-and-expectations-in-the-first-trimester-of-pregnancy-a-qualitative-study
#18
Stina Lou, Michal Frumer, Mette M Schlütter, Olav B Petersen, Ida Vogel, Camilla P Nielsen
BACKGROUND: A dominant context for pregnant women in the Western world is medical technologies such as ultrasound and screening. It has been argued that such technologies may result in tentative pregnancies, which may be particularly prominent in the first trimester. However, little is known about how women experience early pregnancy. OBJECTIVE: To explore the everyday experiences and expectations of first trimester pregnant women in a medicalized context of comprehensive and routine prenatal screening...
May 18, 2017: Health Expectations: An International Journal of Public Participation in Health Care and Health Policy
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#19
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28457106/detection-rate-and-sonographic-signs-of-trisomy-21-fetuses-at-14-17-weeks-of-gestation
#20
Eliezer Bronshtein, Ido Solt, Moshe Bronshtein, Ayala Gover, Igal Wolman, Zeev Blumenfeld
BACKGROUND: Early prenatal ultrasound is an important part of prenatal screening in Israel. No studies have described the rate of trisomy 21 [T21] identification at 14-17 weeks gestation. OBJECTIVES: To describe the rate of T21 identification by transvaginal sonograms (TVS) at 14-17 weeks gestation. METHODS: We conducted a historical prospective study. Since 1986, early TVS of 72,000 fetuses at 14-17 weeks gestation have been prospectively recorded together with prenatal screening data at a private ultrasound center (AL-KOL, Haifa)...
January 2017: Israel Medical Association Journal: IMAJ
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