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"Prenatal Screening"

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https://www.readbyqxmd.com/read/28076705/improving-the-accuracy-of-prenatal-screening-with-dna-copy-number-analysis
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
https://www.readbyqxmd.com/read/28005161/-epidural-anesthesia-for-fetoscopy-retrospective-analysis-of-a%C3%A2-one-year-cohort
#8
N Kiefer, S F Suter, C Berg, U Gembruch, S U Weber
BACKGROUND: The introduction of routine prenatal screening using ultrasound has led to a substantial increase in diagnoses of fetal disorders that are amenable to intrauterine treatment. While an ultrasound guided insertion of small bore cannulas can be performed under local anesthesia, insertion of a fetoscope usually requires anesthetic management for the mother and the fetus. Additionally, the fetus' intrauterine position may have to be manipulated in order to enable access. Such manoeuvres depend on relaxation of the mother's abdominal wall...
December 22, 2016: Der Anaesthesist
https://www.readbyqxmd.com/read/28004394/fetal-therapy-for-down-syndrome-an-ethical-exploration
#9
Guido de Wert, Wybo Dondorp, Diana W Bianchi
BACKGROUND: Parallel to recent advances in prenatal screening for Down syndrome (DS), therapies for different aspects of the condition have become available. As intellectual disability is a key aspect, this is an active area for research. Several groups have hypothesized that prenatal interventions will give better chances at improving cognitive functioning in persons with DS than postnatal treatment. Clinical trials are being developed. METHOD: We first discuss the ethical pros and cons of trying to improve cognitive functioning in persons with DS to see if there are categorical objections to the general idea, and then move on to explore ethically relevant aspects of the prospect of developing fetal therapy for DS (FTDS)...
December 22, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28002974/proteomics-for-early-prenatal-screening-of-pregnancy-complications-a-2017-perspective
#10
Aggeliki Kolialexi, Danai Mavreli, Nikolas Papantoniou
No abstract text is available yet for this article.
February 2017: Expert Review of Proteomics
https://www.readbyqxmd.com/read/27990344/applicability-of-digital-pcr-to-the-investigation-of-pediatric-onset-genetic-disorders
#11
REVIEW
Matthew E R Butchbach
Early-onset rare diseases have a strong impact on child healthcare even though the incidence of each of these diseases is relatively low. In order to better manage the care of these children, it is imperative to quickly diagnose the molecular bases for these disorders as well as to develop technologies with prognostic potential. Digital PCR (dPCR) is well suited for this role by providing an absolute quantification of the target DNA within a sample. This review illustrates how dPCR can be used to identify genes associated with pediatric-onset disorders, to identify copy number status of important disease-causing genes and variants and to quantify modifier genes...
December 2016: Biomolecular Detection and Quantification
https://www.readbyqxmd.com/read/27977853/termination-of-pregnancy-due-to-renal-tract-abnormalities-survey-of-97-fetuses-from-a-single-medical-center
#12
Yaakov Melcer, Gaby Kaplan, Ido Ben-Ami, Hilla Bahat, Amos Neheman, Narine Galoyan, Ron Maymon
OBJECTIVE: The article aimed to assess the spectrum of fetal renal tract abnormalities as a major finding leading to termination of pregnancy (TOP). METHOD: The study population included all pregnant women with singleton pregnancy who underwent TOP in our institute because of fetal renal tract indications between 1998 and 2015. We specifically excluded TOPs performed because of multiple pregnancies, multisystem defects, abnormal karyotype and chromosomal or genetic defect not related to renal tract abnormalities...
December 15, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27959412/clinical-diagnosis-and-mutation-analysis-of-a-chinese-family-with-camurati-engelmann-disease
#13
Yong Chen, Wanqin Xie, Feng Hu, Jia Chen, Hexin Zheng, Haiyan Zhou, Bin Ni, Wanmeng Li, Jianda Zhou
Camurati-Engelmann disease (CED) is a rare autosomal dominant bone disorder caused by a mutation in transforming growth factor β1 (TGFβ1). The present study aimed to identify a Chinese family with suspected CED based on the clinical symptoms, including pain in extremities, waddling gait, muscle weakness, cortical thickening of the diaphysis of the long bones, and sclerosis of the skull, facial bone, and pelvis. Molecular analysis revealed the presence of the p.Glu169Lys (E169K) mutation in exon 2 of TGFβ1 in patients when compared with the controls...
January 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/27958633/nasal-bone-in-screening-for-t21-at-11-13-6-weeks-of-gestation-a-multicenter-study
#14
Piotr Węgrzyn, Bartosz Czuba, Dawid Serafin, Wojciech Cnota, Mariusz Dubiel, Marek Mączka, Dariusz Zarotyński, Aleksandra Ruci, Mirosław Wielgoś, Krzysztof Sodowski, Dariusz Borowski
OBJECTIVES: Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free β-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). MATERIAL AND METHODS: Ultrasound scan with NB evaluation was performed in 5814 fetuses during routine screening for chromosomal defects at 11 to 13 + 6 weeks of gestation...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27943041/gestational-di-n-butyl-phthalate-exposure-induced-developmental-and-teratogenic-anomalies-in-rats-a-multigenerational-assessment
#15
P Mahaboob Basha, M J Radha
With the limited but ongoing usage of di-n-butyl phthalate (DBP) as plasticizer, the health effects of both phthalate and its alternatives are far from being understood. Multigenerational effects of phthalates were evaluated in rats upon exposure to DBP, aiming to provide some evidences about its potential in causing developmental teratogenicity. Gestational rats were exposed to DBP (500 mg/kg bw/day) and control groups with olive oil. On the 18th day of gestation, fetuses (F1) isolated from a few dams were subjected to prenatal screening, and the other rats were allowed to litter, and later postnatal screening was made...
December 12, 2016: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/27942498/down-syndrome-current-status-challenges-and-future-perspectives
#16
REVIEW
Mohammad Kazemi, Mansoor Salehi, Majid Kheirollahi
Down syndrome (DS) is a birth defect with huge medical and social costs, caused by trisomy of whole or part of chromosome 21. It is the most prevalent genetic disease worldwide and the common genetic cause of intellectual disabilities appearing in about 1 in 400-1500 newborns. Although the syndrome had been described thousands of years before, it was named after John Langdon Down who described its clinical description in 1866. Scientists have identified candidate genes that are involved in the formation of specific DS features...
2016: International Journal of Molecular and Cellular Medicine
https://www.readbyqxmd.com/read/27931155/prenatal-paradox-an-integrative-review-of-women-s-experiences-with-prenatal-screening-for-fetal-aneuploidy-and-neural-tube-defects
#17
Tamra L Shea
BACKGROUND: As prenatal screening for fetal aneuploidy and neural tube defects evolves technologically and becomes increasingly utilized worldwide, an evaluation of the available evidence on women's experiences with prenatal screening is warranted. AIMS: To conduct an integrative review to enhance understanding of women's experiences with prenatal screening for fetal aneuploidy and neural tube defects. DESIGN: Systematic literature searches from January 2005 through January 2016, using the CINAHL, PubMed, and PsychInfo electronic databases and ancestry searches of included studies were performed to identify previously published, peer-reviewed quantitative and qualitative studies...
December 30, 2016: Contemporary Nurse
https://www.readbyqxmd.com/read/27931021/a-retrospective-analysis-of-neonatal-encephalocele-predisposing-factors-and-outcomes
#18
Seyho Cem Yucetas, Necati Uçler
OBJECTIVE: This study evaluates the predisposing factors and outcomes of surgical management of encephaloceles at our institution. MATERIALS AND METHODS: A retrospective analysis of 32 occipital encephaloceles managed operatively at the Neurosurgery Department Clinics of the Faculty of Medicine, Adıyaman University, was performed between 2011 and 2015. RESULTS: Among the study population, 19 mothers had been exposed to TORCH infections (toxoplasma, rubella, cytomegalovirus, herpes simplex virus), 18 were in consanguineous marriages, and 3 had regular prenatal screening...
December 9, 2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27929528/risk-of-preterm-birth-among-women-using-drugs-during-pregnancy-with-elevated-%C3%AE-fetoprotein
#19
R J Baer, C D Chambers, K K Ryckman, S P Oltman, M E Norton, L L Jelliffe-Pawlowski
OBJECTIVE: Examine the risk of preterm birth (PTB) among women who use drugs during pregnancy and have elevated α-fetoprotein (AFP). STUDY DESIGN: The sample included California singleton live births in 2005 to 2010 contained within a hospital discharge database linked to the Prenatal Screening Program. A selection of mothers who did not use drugs was selected at a ratio of 4:1. Risk of PTB was calculated using adjusted odds ratios and 95% confidence intervals (CIs) for women who did or did not use drugs by their AFP percentile...
December 8, 2016: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/27907018/pregnancy-outcome-following-prenatal-diagnosis-of-chromosomal-anomaly-a-record-linkage-study-of-26-261-pregnancies
#20
Myrthe Jacobs, Sally-Ann Cooper, Ruth McGowan, Scott M Nelson, Jill P Pell
Previous studies have demonstrated the influence of changes in the age at which women give birth, and of developments in prenatal screening and diagnosis on the number of pregnancies diagnosed and terminated with chromosomal anomalies. However, we are unaware of any population studies examining pregnancy terminations after diagnosis of chromosomal anomalies that has included all aneuploidies and the influence of maternal factors. The aims of this study were to examine the association between results of prenatal tests and pregnancy termination, and the proportion of foetuses with and without chromosomal anomalies referred for invasive diagnostic tests over time...
2016: PloS One
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