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"Prenatal Screening"

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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
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/28198030/confined-placental-mosaicism-for-22q11-2-deletion-as-the-etiology-for-discordant-positive-nipt-results
#4
M Bunnell, C Zhang, C Lee, D W Bianchi, L Wilkins-Haug
22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000-6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11...
February 14, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#5
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28192554/using-patient-centered-care-after-a-prenatal-diagnosis-of-trisomy-18-or-trisomy-13-a-review
#6
Shelly Haug, Mitchell Goldstein, Denise Cummins, Elba Fayard, T Allen Merritt
Importance: Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants...
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28185830/children-with-type-1-gaucher-disease-changing-profiles-in-the-21st-century
#7
Deborah Elstein, Gheona Altarescu, Aya Abrahamov, Ari Zimran
Gaucher disease (GD) has phenotypic variability. Increased GD awareness especially among at-risk Ashkenazi Jews (AJ) and availability of non-invasive diagnosis induced trend to prenatal screening. We retrospectively assessed pediatric (<16years) Israeli AJ GD patients to ascertain demographics and phenotype at presentation and over-time because many were identified by large-scale screening. 55/67 patients born since 01/01/2000 are AJ with non-neuronopathic GD: 28 (50.9%) are N370S/N370S; 24 (43.6%) are N370S/other; 3 (3...
December 19, 2016: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#8
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28164510/the-status-of-quality-control-investigation-and-analysis-for-maternal-serum-marker-of-prenatal-screening-laboratories-in-china
#9
Falin He, Wei Wang, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. METHODS: Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD)...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28153665/infant-outcomes-among-women-with-zika-virus-infection%C3%A2-during-pregnancy-results-of-a-large-prenatal%C3%A2-zika%C3%A2-screening-program
#10
Emily H Adhikari, David B Nelson, Kathryn A Johnson, Sara Jacobs, Vanessa L Rogers, Scott Roberts, Taylor Sexton, Donald D McIntire, Brian Casey
BACKGROUND: Zika virus infection during pregnancy is a known cause of congenital microcephaly and other neurologic morbidities. OBJECTIVE: We present the results of a large-scale prenatal screening program in place at a single-center health care system since March 14, 2016. Our aims were to report the baseline prevalence of travel-associated Zika infection in our pregnant population, determine travel characteristics of women with evidence of Zika infection, and evaluate maternal and neonatal outcomes compared to women without evidence of Zika infection...
January 30, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28129970/counselling-considerations-for-chromosomal-mosaicism-detected-by-preimplantation-genetic-screening
#11
Andria G Besser, Emily L Mounts
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos...
January 16, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28124379/nuchal-translucency-measurement-in-the-era-of-prenatal-screening-for-aneuploidy-using-cell-free-cf-dna
#12
Barbara M O'Brien, Jacquelyn Halliday, Geralyn Lambert-Messerlian, Elizabeth E Eklund, Edward Kloza, Glenn E Palomaki
No abstract text is available yet for this article.
January 26, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28109006/attitudes-towards-non-invasive-prenatal-diagnosis-among-obstetricians-in-pakistan-a-developing-islamic-country
#13
Shenaz Ahmed, Hussain Jafri, Yasmin Rashid, Gerald Mason, Yasmin Ehsan, Mushtaq Ahmed
OBJECTIVES: Stakeholders' views are essential for informing implementation strategies for non-invasive prenatal testing (NIPT). Little is known about such views in developing countries. We explored attitudes toward NIPT among obstetricians in Pakistan, a developing Islamic country. METHODS: A 35-item questionnaire was distributed and collected at eight events (a national conference and seven workshops in five cities) for obstetric professionals on advances in fetal medicine...
January 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28076705/improving-the-accuracy-of-prenatal-screening-with-dna-copy-number-analysis
#14
LETTER
Charles M Strom, Megan D Maxwell, Renius Owen
No abstract text is available yet for this article.
12, 2017: New England Journal of Medicine
https://www.readbyqxmd.com/read/28063574/interventions-et-techniques-de-diagnostic-pr%C3%A3-natal-visant-l-obtention-d-un-pr%C3%A3-l%C3%A3-vement-f%C3%A5-tal-%C3%A3-des-fins-diagnostiques-risques-et-avantages-pour-la-m%C3%A3-re-et-le-f%C3%A5-tus
#15
R Douglas Wilson, Alain Gagnon, François Audibert, Carla Campagnolo, June Carroll
OBJECTIF: Offrir aux fournisseurs de soins de maternité et à leurs patientes des lignes directrices factuelles contemporaines en ce qui concerne les services de counseling traitant des risques et des avantages maternels propres à la tenue des interventions diagnostiques prénatales orientées par échographie (et/ou des techniques permettant l'établissement d'un diagnostic génétique) nécessaires dans les cas où il a été établi pendant la période prénatale que la grossesse serait exposée à des risques, ainsi qu'en ce qui concerne la prise de décisions subséquentes quant à la prise en charge de la grossesse (questions abordant des aspects tels que le niveau du fournisseur de soins obstétricaux, la surveillance prénatale, le lieu où devraient se dérouler les soins et l'accouchement, et la décision de poursuivre ou d'interrompre la grossesse)...
December 2016: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28056858/the-impact-of-national-prenatal-screening-on-the-time-of-diagnosis-and-outcome-of-pregnancies-affected-with-common-trisomies-a-cohort-study-in-the-northern-netherlands
#16
Katelijne Bouman, Marian K Bakker, Erwin Birnie, Lies Ter Beek, Caterina M Bilardo, Irene M van Langen, Hermien E K de Walle
BACKGROUND: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). METHODS: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy cases born between 2005 and 2012. Screening tests and invasive procedures, timing of diagnosis and pregnancy outcome were compared between the period before (2005-2006) and after introduction (2007-2012) using X (2) tests...
January 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28056555/a-prospective-clinical-trial-to-compare-the-performance-of-dried-blood-spots-prenatal-screening-for-down-s-syndrome-with-conventional-non-invasive-testing-technology
#17
Huiying Hu, Yulin Jiang, Minghui Zhang, Shanying Liu, Na Hao, Jing Zhou, Juntao Liu, Xiaojin Zhang, Liangkun Ma
To evaluate, side by side, the efficiency of dried blood spots (DBSs) against serum screening for Down's syndrome, and then, to construct a two-tier strategy by topping up the fetal cell-free DNA (cfDNA) secondary screening over the high-risk women marked by the primary blood testing to build a practical screening tactic to identify fetal Down's syndrome. One thousand eight hundred and thirty-seven low-risk Chinese women, with singleton pregnancy, were enrolled for the study. Alpha-fetoprotein and free beta human chorionic gonadotropin were measured for the serum as well as for the parallel DBS samples...
January 1, 2017: Experimental Biology and Medicine
https://www.readbyqxmd.com/read/28039875/first-trimester-isolated-maternal-hypothyroxinemia-adverse-maternal-metabolic-profile-and-impact-on-the-obstetrical-outcome
#18
Raluca Maria Furnica, Damien Gruson, John H Lazarus, Dominique Maiter, Pierre Bernard, Chantal Daumerie
BACKGROUND: Isolated maternal hypothyroxinemia (IH) is defined as low maternal FT4 (<5(th) percentile) and normal TSH. There is concern on its potential negative effects on the mother and offspring. OBJECTIVE: We aimed to evaluate the prevalence of IH and to assess the consequences of hypothyroxinemia on the maternal and foetal outcomes. SUBJECTS AND METHODS: From a total of 1300 consecutive pregnant women recruited during the prenatal screen (mean gestational age, 11...
December 31, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/28017427/the-economic-impact-of-prenatal-varicella-immunity-among-pregnant-women-in-alberta
#19
Amrit Passi, Sabrina S Plitt, Florence Y Lai, Kimberley Simmonds, Carmen L Charlton
In light of the changing epidemiology of varicella, we sought to examine varicella antibody levels in the prenatal population in the Canadian province of Alberta. All prenatal varicella screening tests performed between August 1, 2002 and February 2, 2014 (454,592) were included in this study. Test results, demographics and vaccination status were examined to identify varicella seroprevalence and correlates for being seronegative. An overall seroprevalence for varicella of 95.8% was found across all pregnancy screenings...
December 22, 2016: Vaccine
https://www.readbyqxmd.com/read/28009332/effect-of-intrahepatic-cholestasis-of%C3%A2-pregnancy-on-maternal-serum-screening%C3%A2-tests
#20
G G Türkmen, H Timur, Z Yilmaz, A Kirbas, K Daglar, A Tokmak, D Uygur, N Danişman
OBJECTIVE: In this study, we aimed to evaluate whether the changes in the first and second trimester maternal serum biochemical markers used for prenatal screening are associated with euploid pregnancies complicated by intrahepatic cholestasis of pregnancy (ICP). METHODS: A total of 94 pregnant women were included in this retrospective comparative study. Thirty-seven women whose pregnancy was complicated with ICP constituted the study group whereas 57 of them constituted the control group...
2016: Journal of Neonatal-perinatal Medicine
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