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https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#1
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/27848040/modifications-in-the-proteome-of-rainbow-trout-oncorhynchus-mykiss-embryo-and-fry-as-an-effect-of-triploidy-induction
#2
Samad Bahrami Babaheydari, Saeed Keyvanshokooh, Salar Dorafshan, Seyed Ali Johari
Two-dimensional gel electrophoresis (2-DE), matrix-assisted laser desorption/ionization tandem time-of-flight (MALDI-TOF/TOF) mass spectrometry, and database searching were used to analyze the effects of triploidization heat shock treatment on protein expression in rainbow trout eyed embryo and fry. After fertilization, the eggs were incubated at 10 °C for 10 min. Half of the eggs were then subjected to heat shock for 10 min submerged in a 28 °C water bath to induce triploidy. The remainder was incubated normally and used as diploid controls...
November 15, 2016: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/27833086/comparative-study-of-single-nucleotide-polymorphism-array-and-next-generation-sequencing-based-strategies-on-triploid-identification-in-preimplantation-genetic-diagnosis-and-screen
#3
Jiawei Xu, Wenbin Niu, Zhaofeng Peng, Xiao Bao, Meixiang Zhang, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27806655/screening-for-trisomies-21-and-18-in-a-spanish-public-hospital-from-the-combined-test-to-the-cell-free-dna-test
#4
M M Gil, M Brik, C Casanova, R Martin-Alonso, M Verdejo, E Ramírez, B Santacruz
OBJECTIVE: To describe our experience in first-trimester screening for trisomies 21 and 18 firstly by the combined test alone and secondly by cell-free (cf)DNA testing contingent on the results from a previously performed combined test. METHODS: Women with singleton pregnancies attending Torrejon University Hospital in Madrid, Spain, from November 2011 to January 2016, were screened for trisomy (T)21 and T18 by the combined test at 11-13 weeks. Before the introduction of cfDNA testing, women at high risk (>1 in 250) were offered invasive testing (IT) and from January 2015 they were offered cfDNA test as well as IT...
November 2, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#5
EDITORIAL
Mary E Norton, Miriam Kuppermann
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27793310/where-have-all-the-trisomies-gone
#6
EDITORIAL
Glenn E Palomaki, Geralyn M Lambert-Messerlian, James E Haddow
Providing reliable prenatal screening performance estimates is critical for patient counseling and policy-making. Women who choose prenatal screening for aneuploidy are likely to be concerned not only with the common aneuploidies but with all causes of intellectual disability and serious birth defects. Sequential prenatal screening (combined serum and ultrasound testing) for aneuploidy detection commonly is offered as a primary screening test. Among women identified as screen positive, cell-free (cf)DNA has been added recently as a secondary, noninvasive screening option, before the consideration of invasive diagnostic testing (eg, amniocentesis and karyotype)...
November 2016: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27757578/paternity-calculations-in-a-di-spermy-case
#7
Bruce Budowle, Christina Capt, Ranajit Chakraborty, Jianye Ge
In a criminal paternity case, which involved analysis of the product of conception, a rare circumstance was observed. The product of conception was triploidy, apparently due to an egg fertilized by two sperm. Since there is little guidance on how to calculate the probability of the DNA evidence given some basic hypotheses, the formulae were derived and are presented herein. These approaches could provide guidance for similar situations if they arise.
October 18, 2016: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/27725027/the-value-and-role-of-non-invasive-prenatal-testing-in-a-select-south-african-population
#8
C N Mnyani, E Nicolaou, S Bister
BACKGROUND: Concerns have been raised about the injudicious use of non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA), which often leads to inaccuracies in interpretation of the role and value of cfDNA in prenatal screening. OBJECTIVES:  To determine the value and role of NIPT in a select South African (SA) population. METHODS:  A retrospective review of patients who elected to have NIPT between 1 October 2013 and 30 June 2015 at the Morningside Mediclinic Maternal and Fetal Medicine Centre in Johannesburg, SA...
September 9, 2016: South African Medical Journal, Suid-Afrikaanse Tydskrif Vir Geneeskunde
https://www.readbyqxmd.com/read/27706771/detection-of-aneuploidies-in-spontaneous-abortions-by-quantitative-fluorescent-pcr-with-short-tandem-repeat-markers-a-retrospective-study
#9
F F Coelho, F K Marques, M S Gonçalves, V C O Almeida, E C C Mateo, A C S Ferreira
Approximately 10-15% of all pregnancies end in spontaneous abortions. Many factors can lead to embryonic loss; however, it has been well established that over 50% of all miscarriages result from chromosomal abnormalities, primarily aneuploidies (>96%). Identifying the cause of miscarriage can significantly reduce the psychological stress in women, and enable better genetic counseling for a future pregnancy. Quantitative fluorescent polymerase chain reaction (QF-PCR) has been previously used in the study of chromosomal abnormalities...
September 23, 2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/27696391/prognostic-impact-of-pretreatment-cytogenetics-in-adult-philadelphia-chromosome-negative-acute-lymphoblastic-leukemia-in-the-era-of-minimal-residual-disease
#10
Ghayas C Issa, Hagop M Kantarjian, C Cameron Yin, Wei Qiao, Farhad Ravandi, Deborah Thomas, Nicholas J Short, Koji Sasaki, Guillermo Garcia-Manero, Tapan M Kadia, Jorge E Cortes, Naval Daver, Gautam Borthakur, Nitin Jain, Marina Konopleva, Issa Khouri, Partow Kebriaei, Richard E Champlin, Sherry Pierce, Susan M O'Brien, Elias Jabbour
BACKGROUND: The introduction of novel prognostic factors such as minimal residual disease (MRD) and genomic profiling has led to the reevaluation of the role of cytogenetics and other conventional factors in risk stratification for acute lymphoblastic leukemia (ALL). METHODS: This study assessed the impact of baseline cytogenetics on the outcomes of 428 adult patients with Philadelphia chromosome-negative ALL who were receiving frontline chemotherapy. Three hundred thirty patients (77%) were treated with hyperfractionated cyclophosphamide, vincristine, doxorubicin, and dexamethasone-based regimens, and 98 (23%) were treated with the augmented Berlin-Frankfurt-Munster regimen...
October 3, 2016: Cancer
https://www.readbyqxmd.com/read/27692437/why-do-euploid-embryos-miscarry-a-case-control-study-comparing-the-rate-of-aneuploidy-within-presumed-euploid-embryos-that-resulted-in-miscarriage-or-live-birth-using-next-generation-sequencing
#11
Susan M Maxwell, Pere Colls, Brooke Hodes-Wertz, David H McCulloh, Caroline McCaffrey, Dagan Wells, Santiago Munné, James A Grifo
OBJECTIVE: To determine whether undetected aneuploidy contributes to pregnancy loss after transfer of euploid embryos that have undergone array comparative genomic hybridization (aCGH). DESIGN: Case-control study. SETTING: University-based fertility center. PATIENT(S): Cases included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in miscarriage. Controls included 38 patients who underwent frozen euploid ET as determined by aCGH, resulting in a live birth...
September 27, 2016: Fertility and Sterility
https://www.readbyqxmd.com/read/27677482/characterization-of-pax3a-and-pax3b-genes-in-artificially-induced-polyploid-and-gynogenetic-olive-flounder-paralichthys-olivaceus-during-embryogenesis
#12
Shuang Jiao, Zhihao Wu, Xungang Tan, Yulei Sui, Lijuan Wang, Feng You
Although chromosome set manipulation techniques including polyploidy induction and gynogentic induction in flatfish are becoming increasingly mature, there exists a poor understanding of their effects on embryonic development. PAX3 plays crucial roles during embryonic myogenesis and neurogenesis. In olive flounder (Paralichthys olivaceus), there are two duplicated pax3 genes (pax3a, pax3b), and both of them are expressed in the brain and muscle regions with some subtle regional differences. We utilized pax3a and pax3b as indicators to preliminarily investigate whether chromosome set manipulation affects embryonic neurogenesis and myogenesis using whole-mount in situ hybridization...
September 27, 2016: Fish Physiology and Biochemistry
https://www.readbyqxmd.com/read/27636887/dna-genotyping-of-suspected-partial-hydatidiform-moles-detects-clinically-significant-aneuploidy
#13
Terence J Colgan, Martin C Chang, Shabin Nanji, Elena Kolomietz
The diagnosis of partial hydatidiform mole (PM) is especially difficult early in gestation as the morphology of nonmolar abortus (NMA) may mimic PM. Molecular genotyping analysis can definitively identify diandric triploidy, the genetic basis for PM, whereas NMA cases show a biparental inheritance. This 4-year retrospective study sought to determine what proportion of NMA cases which were initially suspected as being PM was aneuploid, and whether this knowledge of aneuploidy status is clinically useful. Cases with atypical villous morphology on histopathology suggestive of PM were subjected to molecular genotyping...
September 15, 2016: International Journal of Gynecological Pathology
https://www.readbyqxmd.com/read/27614356/correlation-between-chromosomal-distribution-and-embryonic-findings-on-ultrasound-in-early-pregnancy-loss-after-ivf-embryo-transfer
#14
Yan Ouyang, Yueqiu Tan, Yan Yi, Fei Gong, Ge Lin, Xihong Li, Guangxiu Lu
STUDY QUESTION: Do early pregnancy losses (EPLs) with and without embryos differ in chromosomal distributions? SUMMARY ANSWER: The chromosomal abnormality rate is significantly higher in miscarriages with embryos than without after in vitro fertilization (IVF)-embryo transfer. WHAT IS KNOWN ALREADY: Chromosomal abnormalities are the main causes of EPLs, the rate of which is up to 24-30% in the IVF population. Little research has been conducted on the correlations between the chromosomal distributions of EPL and the existence of an embryo or with the postmortem embryonic pole length, and the existing results have been inconsistent...
October 2016: Human Reproduction
https://www.readbyqxmd.com/read/27610202/enlarged-nt-%C3%A2-3-5%C3%A2-mm-in-the-first-trimester-not-all-chromosome-aberrations-can-be-detected-by-nipt
#15
Malgorzata I Srebniak, Merel C de Wit, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Maarten F C M Knapen, Marnix J Bos, Gerda A G Looye-Bruinsma, Mieke Koningen, Attie T J I Go, Robert Jan H Galjaard, Diane Van Opstal
BACKGROUND: Since non-invasive prenatal testing (NIPT) in maternal blood became available, we evaluated which chromosome aberrations found in our cohort of fetuses with an enlarged NT in the first trimester of pregnancy (tested with SNP microarray) could be detected by NIPT as well. METHOD: 362 fetuses were referred for cytogenetic testing due to an enlarged NT (≥3.5 mm). Chromosome aberrations were investigated using QF-PCR, karyotyping and whole genome SNP array...
2016: Molecular Cytogenetics
https://www.readbyqxmd.com/read/27606664/normal-newborn-with-prenatal-suspicion-of-x-chromosome-monosomy-due-to-confined-placental-mosaicism
#16
Danielius Serapinas, Daiva Bartkeviciene, Emilija Valantinaviciene, Egle Machtejeviene
The recent introduction of cell-free DNA (cfDNA)-based noninvasive prenatal testing (NIPT) offers pregnant women a more accurate method than traditional serum screening methods for detecting fetal aneuploidies. Clinical trials have demonstrated the efficacy of NIPT for Down, Edwards and Patau syndromes. However NIPT approaches that take advantage of single-nucelotide polymorphism (SNP) information potentially allow the identification of triploidy, chromosomal microdeletion syndromes and other unusual genetic variants...
October 1, 2016: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/27596393/triploidy-does-not-decrease-contents-of-eicosapentaenoic-and-docosahexaenoic-acids-in-filets-of-pink-salmon-oncorhynchus-gorbuscha
#17
Michail I Gladyshev, Valentina S Artamonova, Alexander A Makhrov, Nadezhda N Sushchik, Galina S Kalachova, Yury Y Dgebuadze
Triploid fish has become an important item of commercial aquaculture, but data on its fatty acid (FA) composition are still controversial, especially regarding essential polyunsaturated fatty acids, eicosapentaenoic acid (20:5n-3, EPA) and docosahexaenoic acid (22:6n-3, DHA). We studied FA composition and content of diploid and triploid pink salmon Oncorhynchus gorbuscha, reared in aquaculture in a bay of the White Sea (Russia). FA composition, measured as percentages of total FA of triploids and immature diploid females significantly differed from that of mature diploid fish...
February 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/27594580/the-clinical-utility-of-genetic-testing-of-tissues-from-pregnancy-losses
#18
C A Waterman, P Batstone, N Bown, L Cresswell, C Delmege, C J English, G Fews, L Grimsley, S Imrie, A Kulkarni, K Mann, R Johnson, S M Morgan, P Roberts, I Simonic, S Trueman, M Wall, D McMullan
OBJECTIVE: To map the current testing being undertaken following pregnancy loss across the UK and to examine the clinical utility in terms of identifying a cause for the loss and in identifying couples at risk of an unbalanced liveborn child. DESIGN: Retrospective audit. SETTING: UK, for the year 2014. POPULATION: An audit of 6465 referrals for genetic testing of tissue samples following pregnancy loss. METHODS: Data were obtained by questionnaire from 15 UK regional genetics laboratories...
September 5, 2016: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/27550089/the-sphenoid-frontal-distance-in-euploid-and-aneuploid-fetuses
#19
Harald Abele, Jiri Sonek, Dominik Goldschmid, Philipp Wagner, Markus Hoopmann, Karl Oliver Kagan
OBJECTIVE: To examine the spheno-frontal distance (SFD) in a large series of aneuploid fetuses in the second and third trimesters and compare it with euploid population. METHODS: First, we searched the database for pregnancies with the diagnosis of trisomy 21, 18, 13, triploidy or Turner syndrome after 15 weeks' gestation. Whenever possible, we selected images that were obtained between 19 and 22 weeks. For the normal population, we randomly selected two euploid fetuses for each aneuploid case and matched them for gestational age...
August 23, 2016: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/27424362/comparison-between-pathological-diagnosis-and-cytogenetic-diagnosis-by-short-tandem-repeat-polymorphism-analysis-of-suspected-molar-pregnancies
#20
Hirokazu Usui, Takako Kiyokawa, Jia Qu, Kyoko Nishikimi, Shinichi Tate, Akira Mitsuhashi, Yukio Nakatani, Makio Shozu
OBJECTIVE: To elucidate the diagnostic accuracy of macroscopic and histopathological diagnoses of molar pregnancy as compared with cytogenetic diagnosis as the gold standard. STUDY DESIGN: Patients were recruited for the molecular diagnostic study of suspected molar pregnancy at Chiba University Hospital between 2007 and 2011. Gynecologists performed macroscopic diagnoses immediately after the evacuation. Pathological diagnoses were then made by pathologists in routine bases without performing p57Kip2 immunostaining...
May 2016: Journal of Reproductive Medicine
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