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Trisomy 13

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https://www.readbyqxmd.com/read/28737006/unrecognized-viral-infections-and-chromosome-abnormalities-as-a-cause-of-fetal-death-examination-with-fluorescence-in%C3%A2-situ-hybridization-immunohistochemistry-and-polymerase-chain-reaction
#1
Bente Ediassen Opsjøn, Svein Arne Nordbø, Christina Vogt
Fifteen to 50% of fetal deaths remain unexplained after post-mortem examination depending on inclusion criteria and classification systems. Our aim was to examine a selection of unexplained fetal deaths in order to investigate whether any common chromosome aberrations or viral infections were present. Reports from 351 fetal autopsies performed at the Department of Pathology and Medical Genetics at St. Olavs University Hospital from 2001 through 2010 were reviewed. Of these, 105 fetal deaths were classified as unexplained...
July 24, 2017: APMIS: Acta Pathologica, Microbiologica, et Immunologica Scandinavica
https://www.readbyqxmd.com/read/28728213/performance-of-non-invasive-prenatal-screening-for-fetal-aneuploidy-in-twin-pregnancies-a-meta-analysis
#2
Hong Liao, Shanling Liu, He Wang
OBJECTIVE: The objective of this study was to review the published studies of non-invasive prenatal screening (NIPS) in twin pregnancies and to evaluate the performance for screening fetal trisomies 21, 18, and 13 in twin pregnancies. METHOD: Ten eligible studies were included in this meta-analysis. Data analysis, heterogeneity exploring, meta-regression and subgroup analysis were all conducted with Meta-DiSc 1.4. Quality assessments were carried out with the Quality Assessment Tool for Diagnostic Accuracy Studies (QUADAS-2)...
July 20, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28727976/monozygotic-twins-discordant-for-trisomy-13-a-case-of-trisomic-rescue-supporting-the-continued-need-for-first-trimester-ultrasound
#3
Patrick McFadden, Sarah Smithson, Robert Massaro, Jialing Huang, Gail T Prado, Wendy Shertz
Monozygotic twins with discordant karyotypes for trisomy 13 are rare. We report a case of a spontaneously conceived pregnancy who presented with first-trimester ultrasound finding of umbilical cord cyst and increased nuchal translucency in Twin A and no abnormalities in Twin B. Amniocentesis revealed 47,XY,+13 karyotype in Twin A and 46,XY karyotype in Twin B. Selective fetal reduction was performed for Twin A. Twin B was delivered at 32 weeks gestation with normal phenotype. Peripheral blood karyotype revealed 15% mosaicism for trisomy 13 and skin fibroblast revealed 46,XY karyotype...
July 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/28682865/overall-evaluation-of-the-clinical-value-of-prenatal-screening-for-fetal-free-dna-in-maternal-blood
#4
Bin Yu, Bei-Yi Lu, Bin Zhang, Xiao-Qing Zhang, Ying-Ping Chen, Qin Zhou, Jian Jiang, Hui-Yan Wang
OBJECTIVE: To explore the clinical value of prenatal screening for fetal-free DNA in maternal blood. METHODS: A total of 10,275 maternal blood samples were collected from October 2012 to May 2016 at the prenatal diagnosis center of Changzhou Woman and Children Health Hospital. RESULTS: Among 10,275 pregnant women accepted noninvasive prenatal testing (NIPT), 9 cases could not get the results after collected the blood second times. The rate of NIPT failure was 0...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28671725/trisomy-13-confined-placental-mosaicism-is-there-an-increased-risk-of-gestational-hypertensive-disorders
#5
Sarah K Dotters-Katz, Emily Hardisty, Erin Campbell, Neeta Vora
No abstract text is available yet for this article.
July 3, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28662500/overview-of-chromosome-abnormalities-in-first-trimester-miscarriages-a-series-of-1-011-consecutive-chorionic-villi-sample-karyotypes
#6
Anna Soler, Carme Morales, Irene Mademont-Soler, Ester Margarit, Antoni Borrell, Virginia Borobio, Miriam Muñoz, Aurora Sánchez
In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed...
June 30, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28656700/chromosomal-abnormalities-of-high-grade-mucinous-tubular-and-spindle-cell-carcinoma-of-the-kidney
#7
Evita T Sadimin, Ying-Bei Chen, Lu Wang, Pedram Argani, Jonathan I Epstein
INTRODUCTION: Mucinous tubular and spindle cell carcinoma (MTSC) of the kidney is a distinct entity characterized by bland tightly packed elongated tubules and spindle cells with low nucleolar grade in a basophilic mucinous stroma. Several case studies have reported MTSC with high grade features and have brought into question whether they represented MTSC or a variant of papillary renal cell carcinoma. MATERIALS AND METHODS: We searched our pathology database and identified seven cases: six MTSC with high International Society of Urological Pathology (ISUP) nucleolar grade, and one MTSC with overall low nucleolar grade but extensive necrosis...
June 28, 2017: Histopathology
https://www.readbyqxmd.com/read/28640470/contingent-first-trimester-screening-for-aneuploidies-with-cell-free-dna-in-a-danish-clinical-setting
#8
Caroline Borregaard Miltoft, Line Rode, Charlotte Kvist Ekelund, Karin Sundberg, Susanne Kjaergaard, Helle Zingenberg, Ann Tabor
OBJECTIVES: The primary aim was to compare the screening performance for Trisomy 21, of standard combined first trimester screening with referral to invasive testing at a cut-off at 1 in 300, with a contingent testing, consisting of referral to invasive testing at a 1 in 100 cut-off and referral to cell-free DNA (cfDNA) testing for a risk between 1 in 100 and 1 in 1000. METHODS: Singleton pregnant women with a combined first trimester risk ≥ 1 in 1000 were consecutively recruited from two Danish hospitals between August 2014 and May 2015...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28640401/two-stage-approach-for-risk-estimation-of-fetal-trisomy-21-and-other-aneuploidies-using-computational-intelligence-systems
#9
A C Neocleous, A Syngelaki, K H Nicolaides, C N Schizas
OBJECTIVE: To estimate the risk for fetal trisomy 21 (T21) and other chromosomal abnormalities at 11-13 week's gestation using computational intelligence classification methods. METHODS: As a first step, we train the artificial neural networks with 72054 euploid pregnancies, 295 cases of T21 and 305 of other chromosomal abnormalities (OCA). Then, we sort the cases into two categories of "no-risk" and "risk". The cases of "no-risk" are no further examined, while the cases with "risk" are forwarded in Stage 2 for further examination where we classify them in three types of risk, namely "no-risk", "moderate-risk" and "high-risk"...
June 22, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28638969/introduction-childhood-and-disability
#10
EDITORIAL
Erica K Salter
From growth attenuation therapy for severely developmentally disabled children to the post-natal management of infants with trisomy 13 and 18, pediatric treatment decisions regularly involve assessments of the probability and severity of a child's disability. Because these decisions are almost always made by surrogate decision-makers (parents and caregivers) and because these decision-makers must often make decisions based on both prognostic guesses and potentially biased quality of life judgments, they are among the most ethically complex in pediatric care...
June 21, 2017: HEC Forum: An Interdisciplinary Journal on Hospitals' Ethical and Legal Issues
https://www.readbyqxmd.com/read/28629247/obstetric-practice-patterns-in-pregnancies-complicated-by-fetal-trisomy-13-or-18
#11
Sarah K Dotters-Katz, Marcela C Smid, Cora Mcelwain, Jeffrey A Kuller, Jay Schulkin
PURPOSE: Describe practice patterns among obstetrician/gynecologists (OB/GYNs) when caring for women with pregnancy complicated by fetal trisomy 13(T13) or 18(T18), and compare these between maternal-fetal-medicine (MFM) and non-MFM providers. MATERIALS AND METHODS: We conducted an electronic survey using the American College of Obstetricians and Gynecologists database. Using simple statistics, we describe demographics and practice patterns among respondents, and compare those of MFM practitioners with non-MFM providers...
June 19, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28627098/effect-of-concomitant-birth-defects-and-genetic-anomalies-on-infant-mortality-in-tetralogy-of-fallot
#12
Eric G Jernigan, Paula D Strassle, Rebecca C Stebbins, Robert E Meyer, Jennifer S Nelson
BACKGROUND: A substantial proportion of infants born with tetralogy of Fallot (TOF) die in infancy. A better understanding of the heterogeneity associated with TOF, including extracardiac malformations and chromosomal anomalies is vital to stratifying risk and optimizing outcomes during infancy. METHODS: Using the North Carolina Birth Defects Monitoring Program, infants diagnosed with TOF and born between 2003 and 2012 were included. Kaplan-Meier survival curves were used to estimate cumulative 1-year mortality, stratified by the presence of concomitant birth defects (BDs) and chromosomal anomalies...
June 19, 2017: Birth defects research
https://www.readbyqxmd.com/read/28621052/10p15-3p13-duplication-inherited-from-paternal-balance-translocation-46-xy-t-5-10-q35-1-p13-identified-on-non-invasive-prenatal-testing
#13
Jin Mei, Hao Wang, Liyong Zhan
Balanced reciprocal translocations are relatively common human genetic abnormalities that involve the exchange of the terminal segments between different chromosomes and have an approximately 5-80% chance of generating an embryo with chromosomal abnormalities. Non-invasive prenatal testing (NIPT) has been increasingly used in clinical practice to detect fetal trisomies 21, 18 and 13 with a sensitivity and specificity of up to 99%. In this report, we describe a duplication on chromosome 10 and a deletion on chromosome 5 that were first detected on NIPT...
June 2017: Journal of Obstetrics and Gynaecology Research
https://www.readbyqxmd.com/read/28617416/genome-wide-cfdna-screening-clinical-laboratory-experience-with-the-first-10-000-cases
#14
Mathias Ehrich, John Tynan, Amin Mazloom, Eyad Almasri, Ron McCullough, Theresa Boomer, Daniel Grosu, Jason Chibuk
PurposeInvasive diagnostic prenatal testing can provide the most comprehensive information about the genetic status of a fetus. Noninvasive prenatal screening methods, especially when using cell-free DNA (cfDNA), are often limited to reporting only on trisomies 21, 18, and 13 and sex chromosome aneuploidies. This can leave a significant number of chromosomal and subchromosomal copy-number variations undetected. In 2015, we launched a new genome-wide cfDNA screening test that has the potential to narrow this detection gap...
June 15, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28616926/-clinical-application-of-chromosomal-microarray-analysis-in-karyotyping-with-uncertain-genomic-rearrangement
#15
Ting Hu, Zhu Zhang, Jia-Min Wang, Hong-Qian Liu, Zhi-Ying Liu, He Wang, Shan-Ling Liu
OBJECTIVES: To apply chromosomal microarray analysis (CMA) in the diagnosis of karyotyping with uncertain genomic rearrangement. METHODS: We retrospectively reviewed 48 samples (34 samples of amniotic fluid, 14 samples of peripheral blood) of karyotype analyses with uncertain genomic rearrangement in patients admitted to our department from September 2014 to April 2016. The CMA results were compared with those of karyotyping. RESULTS: The 48 samples consisted of 13 samples with marker chromosomes, 19 samples with derivative chromosomes, and 16 samples with balanced translocation...
May 2017: Sichuan da Xue Xue Bao. Yi Xue Ban, Journal of Sichuan University. Medical Science Edition
https://www.readbyqxmd.com/read/28608970/effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years
#16
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
OBJECTIVE: To study factors influencing the number of ovulations in reproductive life as risk factors for common trisomies. METHODS: The present observational study examined data from genetic counseling sessions performed at the 1st Department of Obstetrics and Gynecology, Semmelweis University, Budapest, Hungary, between September 1, 2013, and September 1, 2015, and retrieved data on patients of advanced maternal age (≥35 years) who had fetal trisomy 21, 18, or 13 confirmed...
June 13, 2017: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28608362/chromosomal-microarray-as-a-primary-diagnostic-genomic-tool-for-pregnancies-defined-as-being-at-increased-risk-within-a-population-based-combined-first-trimester-screening-program
#17
Ida Vogel, Olav Bjørn Petersen, Rikke Christensen, Jon Hyett, Stina Lou, Else Marie Vestergaard
OBJECTIVE: To evaluate the impact of using high-resolution chromosomal microarray (CMA) as the standard diagnostic approach to examine for genomic imbalances in pregnancies with increased risk (≥1 in 300) defined through combined first trimester screening (cFTS). METHODS: A cohort of 575 consecutive pregnancies that had cFTS risk ≥1:300 through a publicly funded population based screening program in the Central and Northern Regions of Denmark between September 2015 and September 2016...
June 13, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28604948/-clinical-significance-of-secondary-results-from-non-invasive-prenatal-testing
#18
Weilin Ke, Weihua Zhao, Shenqiu Jie, Qingqing Chen, Qing Li
OBJECTIVE: To assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes. METHODS: From October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA)...
June 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28604574/use-of-extracorporeal-membrane-oxygenation-and-mortality-in-pediatric-cardiac-surgery-patients-with-genetic-conditions-a-multicenter-analysis
#19
Jamie M Furlong-Dillard, Venugopal Amula, David K Bailly, Steven B Bleyl, Jacob Wilkes, Susan L Bratton
OBJECTIVE: Congenital heart disease is commonly a manifestation of genetic conditions. Surgery and/or extracorporeal membrane oxygenation were withheld in the past from some patients with genetic conditions. We hypothesized that surgical care of children with genetic conditions has increased over the last decade, but their cardiac extracorporeal membrane oxygenation use remains lower and mortality greater. DESIGN: Retrospective cohort study. SETTING: Patients admitted to the Pediatric Health Information System database 18 years old or younger with cardiac surgery during 2003-2014...
June 9, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28603073/rapid-prenatal-diagnosis-of-aneuploidy-for-chromosomes-21-18-13-x-and-y-using-segmental-duplication-quantitative-fluorescent-pcr-sd-qf-pcr
#20
Lei Sun, Zuqian Fan, Ju Long, Xunjin Weng, Weijun Tang, Wanrong Pang
BACKGROUND: In our previous studies, the rapid diagnosis of aneuploidy has been achieved using the segmental duplication molecular markers-based SD-QF-PCR technique. However, it is also insufficient due to the drawbacks including less detection loci and incompetence in single-tube detection. METHODS: In this paper, we developed 13 new segmental duplications as molecular markers, as well as designed 13 pairs of primers and 1 fluorescence-labeled universal primer, which could detect chromosome aneuploidies in one PCR tube...
June 9, 2017: Gene
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