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"Prenatal Screening"

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https://www.readbyqxmd.com/read/28323386/the-association-of-maternal-lymphatic-markers-and-critical-congenital-heart-defects-in-the-fetus-a-population-based-case-control-study
#1
Martina A Steurer, Mary E Norton, Rebecca J Baer, Gary M Shaw, Sheila Keating, Anita J Moon-Grady, Christina D Chambers, Laura L Jelliffe-Pawlowski
The objective ot this study was to investigate whether lymphatic markers measured in women during the second trimester are associated with critical congenital heart defects (CCHDs) in offspring. This is a retrospective cohort study of pregnant women who participated in the California Prenatal Screening Program. CCHD data in the offspring was captured by linking birth certificate data with hospital patient discharge records. Second trimester samples were assayed for vascular endothelial growth factor (VEGF), platelet derived growth factor (PDGF) AA/BB, and PDGF AB...
March 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28320334/use-of-a-patient-decision-aid-for-prenatal-screening-for-down-syndrome-what-do-pregnant-women-say
#2
Maria Esther Leiva Portocarrero, Anik M C Giguère, Johanie Lépine, Mirjam M Garvelink, Hubert Robitaille, Agathe Delanoë, Isabelle Lévesque, Brenda J Wilson, François Rousseau, France Légaré
BACKGROUND: Patient decision aids (PtDAs) help people make difficult, values-sensitive decisions. Prenatal screening for assessing the risk of genetic conditions in the fetus is one such decision and patient decision aids are rarely used in this clinical context. We sought to identify factors influencing pregnant women's use of a patient decision aid for deciding about prenatal screening for Down syndrome (DS). METHODS: This qualitative study was embedded in a sequential mixed-methods research program whose main aim is to implement shared decision-making (SDM) in the context of prenatal screening for DS in the province of Quebec, Canada...
March 20, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28317136/noninvasive-prenatal-screening-at-low-fetal-fraction-comparing-whole-genome-sequencing-and-single-nucleotide-polymorphism-methods
#3
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/28301716/prenatal-screening-it-is-not-just-about-down-syndrome
#4
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
#5
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
#6
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/28295165/declining-invasive-prenatal-diagnostic-procedures-a-comparison-of-tertiary-hospital-and-national-data-from-2012-to-2015
#7
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/28277915/termination-of-pregnancy-due-to-fetal-abnormalities-performed-after-32-weeks-gestation-survey-of-57-fetuses-from-a-single-medical-center
#8
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/28271621/first-characterization-of-human-amniotic-fluid-stem-cell-extracellular-vesicles-as-a-powerful-paracrine-tool-endowed-with-regenerative-potential
#9
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/28268196/prenatal-ultrasound-diagnosis-and-outcome-of-placenta-previa-accreta-after-caesarean-delivery-a-systematic-review-and-meta-analysis
#10
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/28261902/estimates-of-live-birth-prevalence-of-children-with-down-syndrome-in-the-period-1991-2015-in-the-netherlands
#11
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
#12
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
#13
EDITORIAL
F Vialard, E Quarello
No abstract text is available yet for this article.
March 1, 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28258854/-analysis-of-prenatal-follow-up-strategies-for-trisomy-21-affected-pregnancies-in-france
#14
J-M Dupont, B Simon-Bouy, A Zebina, F Pessione, D Royère, M Doco-Fenzy
OBJECTIVE: The main objective of this study was to screen the prenatal follow-up of women with live birth trisomy 21 child in order to evaluate the proportion of prenatal screening failure versus cases where the women refused either the screening or the prenatal diagnosis of Down syndrome. This study covers the period of time from 2009 to 2012 when the national prenatal screening policy changed from second to first trimester and allows for a comparative assessment of the nationwide efficiency of the various maternal serum marker based strategies...
February 28, 2017: Gynecol Obstet Fertil Senol
https://www.readbyqxmd.com/read/28252309/-influence-of-hcg-glycosylation-on-its-functions-in-female-reproduction
#15
I Oborná, H Fingerová
OBJECTIVE: To review contemporary knowledge of the hCG molecule, its isoforms and the importance of glycosylation. Biologic variants and glycoforms of hCG have different biological activities and functions related to the control of menstrual cycle, conception, gestation as well as gynaecologic and non-gynaecologic malignancies. DESIGN: A review. SETTING: Department of Obstetrics and Gynaecology, University Hospital Olomouc. METHODS: To present own experience and an overview of recent literature in molecular biology, clinical biochemistry and clinical practice...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28249853/non-invasive-prenatal-screening-should-be-banned-for-sex-selection-says-ethics-report
#16
Anne Gulland
No abstract text is available yet for this article.
February 28, 2017: BMJ: British Medical Journal
https://www.readbyqxmd.com/read/28248967/improving-the-positive-predictive-value-of-non-invasive-prenatal-screening-nips
#17
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies with known aneuploidy status were used for assay development, verification, and validation. Assay verification studies using 2,085 known samples (1873 unaffected, 69 trisomy 21, 20 trisomy 18, 17 trisomy 13) demonstrated complete discrimination between autosomal trisomy (Z scores >8) and unaffected (Z scores <4) singleton pregnancies...
2017: PloS One
https://www.readbyqxmd.com/read/28219116/prevalence-timing-of-diagnosis-and-pregnancy-outcome-of-abdominal-wall-defects-after-the-introduction-of-a-national-prenatal-screening-program
#18
Hanneke Fleurke-Rozema, Karline van de Kamp, Marian Bakker, Eva Pajkrt, Caterina Bilardo, Rosalinde Snijders
OBJECTIVE: To examine prevalence, time of diagnosis and outcome of fetuses with an exomphalos or gastroschisis, diagnosed since the introduction of a national prenatal screening program in 2007. METHODS: A prospective cohort study was undertaken in two fetal medicine units in the Netherlands. Cases were included if the estimated due date was between 2009 and 2013. Outcome measures were gestational age at diagnosis, presence of additional anomalies, and pregnancy outcome...
February 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28214469/cost-benefit-analysis-of-chlamydia-trachomatis-screening-in-pregnant-women-in-a-high-burden-setting-in-the-united-states
#19
Jared Ditkowsky, Khushal H Shah, Margaret R Hammerschlag, Stephan Kohlhoff, Tamar A Smith-Norowitz
BACKGROUND: Chlamydia trachomatis is the most common bacterial sexually transmitted infection (STI) in the United States (U.S.) [1] and remains a major public health problem. We determined the cost- benefit of screening all pregnant women aged 15-24 for Chlamydia trachomatis infection compared with no screening. METHODS: We developed a decision analysis model to estimate costs and health-related effects of screening pregnant women for C. trachomatis in a high burden setting (Brooklyn, NY)...
February 18, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28213577/economic-evaluation-of-universal-prenatal-hiv-screening-compared-with-current-at-risk-policy-in-a-very-low-prevalence-country
#20
Michal Chowers, Oren Shavit
OBJECTIVES: Our objective was to economically evaluate universal HIV prenatal screening in Israel, a very low prevalence country (0.1%), compared with the current policy of testing only women belonging to high-risk (HR) groups. DESIGN: A cost-effectiveness analytical model was constructed. Life expectancies, direct medical costs and utility weights of an HIV-positive newborn and a healthy newborn were derived from the literature. Screening was assessed using fourth-generation combo tests...
March 2017: Sexually Transmitted Infections
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