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Prenatal screening

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https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#1
Carlo G Artieri, Carrie Haverty, Eric A Evans, James D Goldberg, Imran S Haque, Yuval Yaron, Dale Muzzey
OBJECTIVE: Performance of noninvasive prenatal screening (NIPS) methodologies when applied to low fetal fraction samples is not well established. The single-nucleotide polymorphism (SNP) method fails samples below a predetermined fetal fraction threshold, whereas some laboratories employing the whole-genome sequencing (WGS) method report aneuploidy calls for all samples. Here, the performance of the two methods was compared to determine which approach actually detects more fetal aneuploidies...
March 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28306397/public-views-on-genetics-and-genetic-testing-a-survey-of-the-general-public-in-belgium
#2
Davit Chokoshvili, Carmen Belmans, Roxanne Poncelet, Sofie Sanders, Deborah Vaes, Danya Vears, Sandra Janssens, Isabelle Huys, Pascal Borry
AIMS: To explore the views of the Belgian public on various topics surrounding genetics and genetic testing (GT). MATERIALS AND METHODS: A written questionnaire was administered to visitors of the annual cartoon festival in Knokke-Heist, Belgium, during the summer of 2014. The main theme of the festival was challenges and progress in human genetics and it was attended by more than 100,000 visitors. RESULTS: The survey was completed by 1182 respondents, resulting in a demographically diverse sample with a mean age of 48...
March 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28301716/prenatal-screening-it-is-not-just-about-down-syndrome
#3
Mary E Norton
Currently available prenatal genetic testing options include a bewildering array of tests from which patients, providers, insurers, and various health systems have to select. In many cases, patients or providers undergo or recommend multiple screening tests focused on the same conditions, for fear of missing something, even if the chance of that is very small. In the commentary in this issue of BJOG by Alfirevic and colleagues (Alfirevic Z, et al. BJOG In Press), the authors opine on the relationship between cell free DNA screening (cfDNA) and first trimester anatomy ultrasound...
March 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28301696/toward-an-ethically-sensitive-implementation-of-noninvasive-prenatal-screening-in-the-global-context
#4
Jessica Mozersky, Vardit Ravitsky, Rayna Rapp, Marsha Michie, Subhashini Chandrasekharan, Megan Allyse
Noninvasive prenatal screening using cell-free DNA, which analyzes placental DNA circulating in maternal blood to provide information about fetal chromosomal disorders early in pregnancy and without risk to the fetus, has been hailed as a potential "paradigm shift" in prenatal genetic screening. Commercial provision of cell-free DNA screening has contributed to a rapid expansion of the tests included in the screening panels. The tests can include screening for sex chromosome anomalies, rare subchromosomal microdeletions and aneuploidies, and most recently, the entire fetal genome...
March 2017: Hastings Center Report
https://www.readbyqxmd.com/read/28299806/an-audit-of-second-trimester-fetal-anomaly-scans-based-on-a-novel-image-scoring-method-in-the-southwest-region-of-the-netherlands
#5
Nicolette T C Ursem, Ingrid A Peters, Mieke N Kraan-van der Est, Jacqueline C I Y Reijerink-Verheij, Maarten F C M Knapen, Titia E Cohen-Overbeek
OBJECTIVES: Since 2007 the second-trimester fetal anomaly scan is offered to all pregnant women as part of the national prenatal screening program in the Netherlands. Dutch population-based screening programs generally have a well-described system to achieve quality assurance. Because of the absence of a uniform system to monitor the actual performance of the fetal anomaly scan in 2012, we developed a standardized image-scoring method. The aim of this study was to evaluate the scanning performance of all sonographers in the southwestern region of the Netherlands using this image-scoring method...
March 16, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28295291/study-of-the-extent-of-information-desired-by-women-undergoing-non-invasive-prenatal-testing-following-positive-prenatal-down-syndrome-screening-test-results
#6
Tsz-Kin Lo, Kelvin Yuen-Kwong Chan, Anita Sik-Yau Kan, Po-Lam So, Choi-Wah Kong, Shui-Lam Mak, Chung-Nin Lee
In addition to common trisomies, the inclusion of sex chromosomes and atypical autosomal anomalies in non-invasive prenatal tests (NIPTs) is becoming increasingly common; this is the result of limited screening alternatives that can identify them [1]. It has been recommended that healthcare practitioners understand patient preferences thoroughly [1], and that, given the complexity of NIPTs, patients be given the option to accept or reject this additional information [2, 3]. However, how much information patients want from NIPTs in a real-life clinical setting remains unknown...
March 12, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28295170/implementing-universal-cervical-length-screening-in-asymptomatic-women-with-singleton-pregnancies-challenges-and-opportunities
#7
Michelle K Pedretti, Brenda M Kazemier, Jan E Dickinson, Ben W J Mol
Cervical length (CL) screening has been successfully utilised to identify asymptomatic women, with a singleton pregnancy, at risk of preterm birth (PTB), thereby providing an opportunity to offer interventions that may reduce that risk. Cervical length screening with ultrasound is most effectively performed with a transvaginal approach. Universal cervical length screening, encompassing all singleton pregnancies rather than restricting screening to those considered at increased risk of PTB, is currently not widely used, despite a growing body of evidence in support of its utility for PTB prevention...
March 10, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28295165/declining-invasive-prenatal-diagnostic-procedures-a-comparison-of-tertiary-hospital-and-national-data-from-2012-to-2015
#8
Kristine Johnson, Joanne Kelley, Virginia Saxton, Susan P Walker, Lisa Hui
BACKGROUND: In recent years, the superior accuracy of maternal plasma cell-free DNA-based prenatal screening has resulted in >50% national decline in amniocenteses and chorionic villus sampling (CVS), creating new implications for specialist training. OBJECTIVE: To compare the annual figures on amniocenteses and CVS in a tertiary hospital with national population-based trends between 2012 and 2015. METHODS: Retrospective study examining the amniocentesis and CVS procedures performed in a tertiary hospital between 2012 and 2015...
March 13, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/28294365/prevalence-of-prenatal-alcohol-exposure-in-the-state-of-texas-as-assessed-by-phosphatidylethanol-in-newborn-dried-blood-spot-specimens
#9
Ludmila N Bakhireva, Janet Sharkis, Shikhar Shrestha, Tristan J Miranda-Sohrabji, Sonnie Williams, Rajesh C Miranda
BACKGROUND: While 2-5% of school-aged children in the U.S. are estimated to be affected by Fetal Alcohol Spectrum Disorders (FASD), the prevalence of prenatal alcohol exposure (PAE) might be substantially under-reported. Our objective was to systematically estimate the prevalence of PAE in Texas by measuring a direct ethanol metabolite, phosphatidylethanol (PEth), in 1,000 infant residual dried blood spots (irDBS) in the Texas Newborn Screening Repository. METHODS: All Public Health Regions were represented proportional to their 2014 birth rate (~0...
March 13, 2017: Alcoholism, Clinical and Experimental Research
https://www.readbyqxmd.com/read/28287802/depressive-symptoms-and-gestational-length-among-pregnant-adolescents-cluster-randomized-control-trial-of-centeringpregnancy%C3%A2-plus-group-prenatal-care
#10
Jennifer N Felder, Elissa Epel, Jessica B Lewis, Shayna D Cunningham, Jonathan N Tobin, Sharon Schindler Rising, Melanie Thomas, Jeannette R Ickovics
OBJECTIVES: Depressive symptoms are associated with preterm birth among adults. Pregnant adolescents have high rates of depressive symptoms and low rates of treatment; however, few interventions have targeted this vulnerable group. Objectives are to: (a) examine impact of CenteringPregnancy® Plus group prenatal care on perinatal depressive symptoms compared to individual prenatal care; and (b) determine effects of depressive symptoms on gestational age and preterm birth among pregnant adolescents...
March 13, 2017: Journal of Consulting and Clinical Psychology
https://www.readbyqxmd.com/read/28282647/suboptimal-prenatal-syphilis-testing-among-commercially-insured-women-in-the-united-states-2013
#11
Robyn Neblett Fanfair, Guoyu Tao, Kwame Owusu-Edusei, Thomas L Gift, Kyle T Bernstein
United States surveillance data demonstrate that congenital syphilis cases are increasing. We performed an analysis of commercially insured pregnant females using MarketSan to determine syphilis screening rates at different prenatal stages; 85% of pregnant women in this population had a syphilis test performed at least once during the prenatal period.
April 2017: Sexually Transmitted Diseases
https://www.readbyqxmd.com/read/28277915/termination-of-pregnancy-due-to-fetal-abnormalities-performed-after-32-weeks-gestation-survey-of-57-fetuses-from-a-single-medical-center
#12
Noa Feldman, Yaakov Melcer, Edward Hod, Orna Levinsohn-Tavor, Ran Svirsky, Ron Maymon
OBJECTIVE: To assess fetal abnormalities leading to very late termination of pregnancy performed after 32 weeks' gestation (VLTOP). METHOD: The study population included all pregnant women with singleton pregnancy that underwent VLTOP in our institute because of fetal indications between the years 1998 and 2015. RESULTS: Fifty-seven cases (2.0%) were at ≥32 week's gestation and are the subjects of the current study. Our VLTOP cases were subdivided into four categories according to the sequence of events that led to the decision for VLTOP: (1) No routine prenatal screening with an incidental fetal finding discovered after 32 weeks' gestation (9 fetuses ∼16%); (2) Routine early prenatal care raised suspicion of abnormalities, and the final diagnosis was established by additional tests (8 fetuses, ∼14%); (3) Developmental findings detected during the 3(rd) trimester (21 fetuses; ∼37%), and (4) fetal abnormalities that could have been detected earlier during pregnancy (19 fetuses; ∼33%)...
February 21, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28277305/current-genetic-testing-tools-in-neonatal-medicine
#13
REVIEW
Seema R Lalani
With the growing understanding of the magnitude of genetic diseases in newborns and equally rapid advancement of tools used for genetic diagnoses, healthcare providers must have a sufficient knowledge base to both recognize and evaluate genetic diseases in the neonatal period. Genetic assessment has become an essential aspect of medicine, and professionals need to know when genetic evaluation is indispensable. Much progress has been made in recent years in utilizing massively parallel sequencing for rapid diagnosis of genetic conditions in neonates...
September 28, 2016: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/28271621/first-characterization-of-human-amniotic-fluid-stem-cell-extracellular-vesicles-as-a-powerful-paracrine-tool-endowed-with-regenerative-potential
#14
Carolina Balbi, Martina Piccoli, Lucio Barile, Andrea Papait, Andrea Armirotti, Elisa Principi, Daniele Reverberi, Luisa Pascucci, Pamela Becherini, Luigi Varesio, Massimo Mogni, Domenico Coviello, Tiziano Bandiera, Michela Pozzobon, Ranieri Cancedda, Sveva Bollini
Human amniotic fluid stem cells (hAFS) have shown a distinct secretory profile and significant regenerative potential in several preclinical models of disease. Nevertheless, little is known about the detailed characterization of their secretome. Herein we show for the first time that hAFS actively release extracellular vesicles (EV) endowed with significant paracrine potential and regenerative effect. c-KIT(+) hAFS were isolated from leftover samples of amniotic fluid from prenatal screening and stimulated to enhance EV release (24 hours 20% O2 versus 1% O2 preconditioning)...
March 8, 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28271526/sonographic-measurement-of-the-fetal-thymus-relationship-with-maternal-obesity
#15
Melahat Yildirim, Ali Ipek, Gulcan Dauletkazin, Busra Demir Cendek, Saniye Gezegen, Raziye Desdicioglu, Ayse Filiz Avsar Yavuz
BACKGROUND: The purpose of this study was to evaluate the influence of maternal obesity on the size of the fetal thymus. METHODS: The study population consisted of 138 pregnant women who were divided into two groups based on their body mass index (BMI): Normal-weight group (n = 97; BMI: 18-25 kg/m(2) ) and obese group (n = 41; BMI: ≥ 30 kg/m(2) ). All participants underwent routine second-trimester prenatal ultrasound (US) screening at 20-25 weeks of gestation...
March 8, 2017: Journal of Clinical Ultrasound: JCU
https://www.readbyqxmd.com/read/28268196/prenatal-ultrasound-diagnosis-and-outcome-of-placenta-previa-accreta-after-caesarean-delivery-a-systematic-review-and-meta-analysis
#16
REVIEW
Eric Jauniaux, Amar Bhide
BACKGROUND: Women with a history of previous caesarean delivery, presenting with a placenta previa have become the largest group with the highest risk for placenta previa accreta. OBJECTIVE: To evaluate the accuracy of ultrasound imaging in the prenatal diagnosis of placenta accreta and the impact of the depth of villous invasion on management in women presenting with placenta previa or low-lying placenta and with one or more prior caesarean deliveries. STUDY DESIGN: Data sources: We searched PubMed, Google Scholar, clinicalTrials...
March 4, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28265307/antibiotic-prophylaxis-for-prevention-of-urinary-tract-infections-in-prenatal-hydronephrosis-an-updated-systematic-review
#17
REVIEW
Bethany Easterbrook, John-Paul Capolicchio, Luis H Braga
INTRODUCTION: While continuous antibiotic prophylaxis (CAP) is currently recommended to prevent urinary tract infections (UTIs) in infants with prenatal hydronephrosis (HN), this recommendation is not evidence-based. The objective of this study was to systematically determine whether CAP reduces UTIs in the HN population. METHODS: Applicable trials were identified through an electronic search of MEDLINE (1946-2015), EMBASE (1980-2016), CINAHL (1982-2016), and CENTRAL (1993-2016) and through a hand search of American Urological Association (AUA) (2012-2015) and European Society for Pediatric Urology (ESPU) (2012-2015) abstracts, as well as reference lists of included trials...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28261902/estimates-of-live-birth-prevalence-of-children-with-down-syndrome-in-the-period-1991-2015-in-the-netherlands
#18
G de Graaf, J J M Engelen, A C J Gijsbers, R Hochstenbach, M J V Hoffer, A J A Kooper, B Sikkema-Raddatz, M I Srebniak, A M F van der Kevie-Kersemaekers, L J C M van Zutven, E Voorhoeve
BACKGROUND: In Western countries, increasing maternal age has led to more pregnancies with a child with Down syndrome (DS). However, prenatal screening programs, diagnostic testing and termination of pregnancy influence the actual DS live birth (LB) prevalence as well. The aim of this study is to examine these factors in the Netherlands for the period 1991-2015. In our study, we establish a baseline for DS LB prevalence before non-invasive prenatal testing will be made available to all pregnant women in the Netherlands in 2017...
March 5, 2017: Journal of Intellectual Disability Research: JIDR
https://www.readbyqxmd.com/read/28260505/copy-number-variations-with-isolated-fetal-ventriculomegaly
#19
P Hu, Y Wang, R Sun, L Cao, X Chen, C Liu, C Luo, D Ma, W Wang, X Fu, W Shi, S Yi, K Zhang, H Liu, Z Xu
BACKGROUND: Copy Number Variations (CNVs) are an important genetic cause of a number of neurodevelopmental disorders (NDs). However, the association between CNVs and the development and prognosis of isolated fetal ventriculomegaly (IMV) is unclear. OBJECTIVES: To investigate possible associations between CNVs and the development of fetal IMV. METHODS: This retrospective study recruited 154 subjects with ultrasound-confirmed fetal IMV and 190 subjects in a control cohort who underwent a high-risk prenatal serum screening program...
March 3, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28259706/-what-strategies-for-prenatal-screening-and-diagnosis-in-france
#20
EDITORIAL
F Vialard, E Quarello
No abstract text is available yet for this article.
March 1, 2017: Gynecol Obstet Fertil Senol
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