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Trisomy 18

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https://www.readbyqxmd.com/read/28079901/the-clinical-utility-of-dna-based-screening-for-fetal-aneuploidy-by-primary-obstetrical-care-providers-in-the-general-pregnancy-population
#1
Glenn E Palomaki, Edward M Kloza, Barbara M O'Brien, Elizabeth E Eklund, Geralyn M Lambert-Messerlian
OBJECTIVE: To assess the clinical utility of cell-free DNA (cfDNA)-based screening for aneuploidies offered through primary obstetrical care providers to a general pregnancy population. METHODS: Patient educational materials were developed and validated and providers were trained. Serum was collected for reflexive testing of cfDNA failures. Providers and patients were surveyed concerning knowledge, decision making, and satisfaction. Pregnancy outcome was determined by active or passive ascertainment...
January 12, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28079873/major-anomalies-and-birth-weight-influence-nicu-interventions-and-mortality-in-infants-with-trisomy-13-or-18
#2
K Acharya, S Leuthner, R Clark, T H Nghiem-Rao, A Spitzer, J Lagatta
OBJECTIVE: To describe neonatal intensive care unit (NICU) medical interventions and NICU mortality by birth weight and major anomaly types for infants with trisomy 13 (T13) or 18 (T18). STUDY DESIGN: Retrospective cohort analysis of infants with T13 or T18 from 2005 to 2012 in the Pediatrix Medical Group. We classified infants into three groups by associated anomaly type: neonatal surgical, non-neonatal surgical and minor. Outcomes were NICU medical interventions and mortality...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
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/28041665/should-extracorporeal-membrane-oxygenation-be-offered-an-international-survey
#4
Kevin W Kuo, Ryan P Barbaro, Samir K Gadepalli, Matthew M Davis, Robert H Bartlett, Folafoluwa O Odetola
OBJECTIVES: To assess the current attitudes of extracorporeal membrane oxygenation (ECMO) program directors regarding eligibility for ECMO among children with cardiopulmonary failure. STUDY DESIGN: Electronic cross-sectional survey of ECMO program directors at ECMO centers worldwide within the Extracorporeal Life Support Organization directory (October 2015-December 2015). RESULTS: Of 733 eligible respondents, 226 (31%) completed the survey, 65% of whom routinely cared for pediatric patients...
December 30, 2016: Journal of Pediatrics
https://www.readbyqxmd.com/read/28040147/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-18-associated-with-a-favorable-fetal-outcome
#5
Chih-Ping Chen, Fang-Yu Hung, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Meng-Shan Lee, Chien-Wen Yang, Wayseen Wang
No abstract text is available yet for this article.
December 2016: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#6
Andreas Neocleous, Kypros Nicolaides, Christos Schizas
The objective of this work is to introduce a noninvasive diagnosis procedure for aneuploidy and minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus...
December 22, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28010042/should-we-open-the-kimono-to-release-the-results-of-rare-autosomal-aneuploidies-following-noninvasive-prenatal-whole-genome-sequencing
#7
Diana W Bianchi
The metaphor "open kimono" has been applied in the business world to connote transparency via the release of all available data to an external party. Here the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented datasets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss and maternal preeclampsia...
December 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27987078/heterogeneous-diagnoses-underlying-radial-ray-anomalies
#8
Rosalba Sevilla-Montoya, Mónica Aguinaga, Alejandro Martínez, Guadalupe Razo, Bertha Molina, Sara Frías, Patricia Grether
OBJECTIVE: To review perinatal Radial Ray Anomaly (RRA) cases born at the National Institute of Perinatology, Mexico, and to reveal the heterogeneous diagnoses of these patients. METHODS: All patients with RRA over a 18 mo period were included; 4/15 were detected prenatally and 11/15 postnatally. Karyotype was performed for all patients with bilateral RRA; and chromosomal breakage analysis, when the karyotype was normal. RESULTS: Fifteen RRA patients were identified: one with trisomy 18, three with an isolated defect, six with monogenic disease, four with a genetic association and one with diabetic embryopathy...
December 17, 2016: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27981672/performance-evaluation-of-the-neobona-test-a-new-paired-end-massive-parallel-shotgun-sequencing-approach-for-cfdna-based-aneuploidy-screening
#9
Vincenzo Cirigliano, Elena Ordoñez, Laura Rueda, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To assess the performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using a new method based on paired-end massive parallel shotgun sequencing (MPSS). METHODS: Blind study of 1000 plasma samples (1 mL) obtained from women undergoing screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation. The study included 50 cases with confirmed fetal trisomy 21, 30 with trisomy 18, 10 with trisomy 13 and 910 unaffected pregnancies...
December 15, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27915499/first-trimester-contingent-screening-for-trisomies-21-18-13-is-this-model-cost-efficient-and-feasible-in-pubblic-health-system
#10
Enrico Colosi, Valentina D'Ambrosio, Enrico Periti
PURPOSE: To evaluate the effectiveness of three different first trimester screening models for trisomies 21, 18 and 13, in terms of detection rate, invasive test rate and final costs. MATERIAL AND METHODS: We analyzed the distribution of risk for trisomies 21, 18 and 13 in a population of 20.831 singleton pregnancies based on maternal age, fetal heart rate, nuchal translucency, free beta human chorionic gonadotropin and pregnancy associated plasma protein A (Combined test)...
December 5, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#11
Markus Hoopmann, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Harald Abele, Karl Oliver Kagan
PURPOSE: To examine the maxillary length of euploid and aneuploid fetuses in the second and third trimester. METHODS: Retrospective study utilizing stored 2D images of second and third trimester fetal profiles obtained at the University of Tuebingen, Germany. The length of the maxilla was measured as a straight line between the anterior ventral and posterior ventral edges of the maxilla. RESULTS: The study population consisted of 347 euploid fetuses and 122, 36, 5, 8, and 4 fetuses with trisomy 21, 18, and 13, Turner syndrome, and triploidy...
December 2, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27900408/prevalence-and-risk-factors-for-pericardial-effusions-requiring-readmission-after-pediatric-cardiac-surgery
#12
Matthew D Elias, Andrew C Glatz, Matthew J O'Connor, Susan Schachtner, Chitra Ravishankar, Christoper E Mascio, Meryl S Cohen
Pericardial effusion (PE) may require readmission after cardiac surgery and has been associated with postoperative morbidity and mortality. We sought to identify the prevalence and risk factors for postoperative PE requiring readmission in children. A retrospective analysis of the Pediatric Health Information System database was performed between January 1, 2003, and September 30, 2014. All patients ≤18 years old who underwent cardiac surgery were identified by ICD-9 codes. Those readmitted within 1 year with an ICD-9 code for PE were identified...
November 30, 2016: Pediatric Cardiology
https://www.readbyqxmd.com/read/27900229/patient-perception-of-negative-noninvasive-prenatal-testing-results
#13
A Theresa Wittman, S Shahrukh Hashmi, Hector Mendez-Figueroa, Salma Nassef, Blair Stevens, Claire N Singletary
Objective To determine patient perception of residual risk after receiving a negative non-invasive prenatal testing result. Introduction Recent technological advances have yielded a new method of prenatal screening, non-invasive prenatal testing (NIPT), which uses cell-free fetal DNA from the mother's blood to assess for aneuploidy. NIPT has much higher detection rates and positive predictive values than previous methods however, NIPT is not diagnostic. Past studies have demonstrated that patients may underestimate the limitations of prenatal screening; however, patient perception of NIPT has not yet been assessed...
October 2016: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/27896246/quantitative-fluorescent-polymerase-chain-reaction-for-rapid-prenatal-diagnosis-of-fetal-aneuploidies-in-chorionic-villus-sampling-in-a-single-institution
#14
You Jung Shin, Jin Hoon Chung, Do Jin Kim, Hyun Mee Ryu, Moon Young Kim, Jung Yeol Han, June Seek Choi
OBJECTIVE: To validate quantitative fluorescent polymerase chain reaction (QF-PCR) via chorionic villus sampling (CVS) for the diagnosis of fetal aneuploidies. METHODS: We retrospectively reviewed the medical records of consecutive pregnant women who had undergone CVS at Cheil General Hospital between December 2009 and June 2014. Only cases with reported QF-PCR before long-term culture (LTC) for conventional cytogenetic analysis were included, and the results of these two methods were compared...
November 2016: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/27889902/establishment-and-characterization-of-a-novel-uterine-carcinosarcoma-cell-line-tu-ecs-1-with-mutations-of-tp53-and-kras
#15
Yohei Chiba, Seiya Sato, Hiroaki Itamochi, Yasuko Suga, Tomoyuki Fukagawa, Nao Oumi, Tetsuro Oishi, Tasuku Harada, Tamotsu Sugai, Toru Sugiyama
A new human uterine carcinosarcoma (UCS) cell line, TU-ECS-1, was established and characterized. The morphological appearance of the cultured cells was an insular of epithelial-like cells arranged in the form of a jigsaw puzzle and mesenchymal-like cells with a spindle-shaped or fibroblast-like morphology. A relatively high proliferation rate was observed with a doubling time of 18.2 h. The chromosome number ranged from 44 to 49 and had an extra chromosome 12 (trisomy 12). The respective half-maximal inhibitory concentrations of cisplatin, paclitaxel, and doxorubicin were 2...
November 26, 2016: Human Cell
https://www.readbyqxmd.com/read/27889224/fetal-megacystis-a-systematic-review
#16
REVIEW
K Taghavi, C Sharpe, M D Stringer
: Fetal megacystis is variably defined and understood. The literature on fetal megacystis was systematically reviewed, focusing on prenatal diagnosis, associations and outcomes. This yielded a total of 18 primary references and eight secondary references. Fetal megacystis has an estimated first-trimester prevalence of between 1:330 and 1:1670, with a male to female ratio of 8:1. In the first trimester, megacystis is most commonly defined as a longitudinal bladder dimension of ≥7 mm...
October 8, 2016: Journal of Pediatric Urology
https://www.readbyqxmd.com/read/27870946/conserved-hierarchical-gain-of-chromosome-4-is-an-independent-prognostic-factor-in-high-hyperdiploid-pediatric-acute-lymphoblastic-leukemia
#17
Á Vojcek, G Pajor, D Alpár, R Mátics, L Pótó, K Szuhai, L Pajor
BACKGROUND: High hyperdiploid (HeH) pre-B pediatric acute lymphoblastic leukemia (B-pALL) is known to be heterogeneous by prognosis, but the stratification principals according to conventional cytogenetic analysis (CCA) are equivocal. PROCEDURE: Untreated bone marrow samples of 214 B-pALL patients were previously classified according to the modal numbers (iMN8) based on the gains of the chromosomes 4, 6, 10, 14, 17, 18, 21, and X as revealed by consecutive and correlated 2×4 color interphase fluorescence in situ hybridization, and at least five years of follow up data were analyzed...
January 2017: Leukemia Research
https://www.readbyqxmd.com/read/27847281/identification-of-pediatric-patients-with-celiac-disease-based-on-serology-and-a-classification-and-regression-tree-analysis
#18
Anna Ermarth, Matthew Bryce, Stephanie Woodward, Gregory Stoddard, Linda Book, M Kyle Jensen
BACKGROUND & AIMS: Celiac disease is detected using serology and endoscopy analyses. We used multiple statistical analyses of a geographically isolated population in the United States to determine whether a single serum screening can identify individuals with celiac disease. METHODS: We performed a retrospective study of 3555 pediatric patients (18 years old or younger) in the intermountain West region of the United States from January 1, 2008 through September 30, 2013...
November 12, 2016: Clinical Gastroenterology and Hepatology
https://www.readbyqxmd.com/read/27842993/diagnosis-and-clinical-management-of-embryonic-mosaicism
#19
REVIEW
Nidhee M Sachdev, Susan M Maxwell, Andria G Besser, James A Grifo
Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births. Mosaic embryos may represent a third category between normal (euploidy) and abnormal (aneuploidy). This category of mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27818252/associated-anomalies-in-cases-with-anotia-and-microtia
#20
Claude Stoll, Yves Alembik, Beatrice Dott, Marie-Paule Roth
Infants with anotia and microtia (AM) often have other non-AM associated congenital anomalies. The purpose of this investigation was to assess the prevalence and the types of these associated anomalies in a defined population. The associated anomalies in infants with AM were collected in all livebirths, stillbirths and terminations of pregnancy during 29 years in 387,067 consecutive births in the area covered by our population-based registry of congenital malformations. Of the 146 cases with AM registered during this period, representing a prevalence of 3...
December 2016: European Journal of Medical Genetics
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