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https://www.readbyqxmd.com/read/28409863/the-influence-of-snp-based-chromosomal-microarray-and-nipt-on-the-diagnostic-yield-in-10-000-fetuses-with-and-without-fetal-ultrasound-anomalies
#1
Malgorzata I Srebniak, Maarten F C M Knapen, Marike Polak, Marieke Joosten, Karin E M Diderich, Lutgarde C P Govaerts, Marjan Boter, Joan N R Kromosoeto, Daniella Aloysia C M van Hassel, Gido Huijbregts, Wilfred F J van Ijcken, Roger Heydanus, Anneke Dijkman, Toon Toolenaar, Femke A T de Vries, Jeroen Knijnenburg, Attie T J I Go, Robert-Jan H Galjaard, Diane Van Opstal
Prenatal diagnostics has been impacted by technological changes in the past decade, which have affected the diagnostic yield. The aim of this study was to evaluate the impact of SNP array and non-invasive prenatal testing (NIPT) on the diagnostic yield and the number of invasive tests in our center. The frequency of pathogenic fetal unbalanced chromosome aberrations was studied in 10,005 cases referred for prenatal testing in 2009-2015. Chromosomal SNP microarray analysis replaced karyotyping in all invasively tested pregnancies and since 2014 a choice between NIPT and diagnostic testing with microarray was offered to women with an increased risk for common aneuploidy...
April 14, 2017: Human Mutation
https://www.readbyqxmd.com/read/28399816/ploidy-elicits-a-whole-genome-dosage-effect-growth-of-triploid-atlantic-salmon-is-linked-to-the-genetic-origin-of-the-second-maternal-chromosome-set
#2
A C Harvey, P G Fjelldal, M F Solberg, T Hansen, K A Glover
BACKGROUND: The Atlantic salmon aquaculture industry is investigating the feasibility of using sterile triploids to mitigate genetic interactions with wild conspecifics, however, studies investigating diploid and triploid performance often show contrasting results. Studies have identified dosage and dosage-compensation effects for gene expression between triploid and diploid salmonids, but no study has investigated how ploidy and parent-origin effects interact on a polygenic trait in divergent lines of Atlantic salmon (i...
April 11, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28396697/efficient-and-cost-effective-genetic-analysis-of-products-of-conception-and-fetal-tissues-using-a-qf-pcr-array-cgh-strategy-five-years-of-data
#3
Celia Donaghue, Nada Davies, Joo Wook Ahn, Helen Thomas, Caroline Mackie Ogilvie, Kathy Mann
BACKGROUND: Traditional testing of miscarriage products involved culture of tissue followed by G-banded chromosome analysis; this approach has a high failure rate, is labour intensive and has a resolution of around 10 Mb. G-banded chromosome analysis has been replaced by molecular techniques in some laboratories; we previously introduced a QF-PCR/MLPA testing strategy in 2007. To improve diagnostic yield and efficiency we have now updated our testing strategy to a more comprehensive QF-PCR assay followed by array CGH...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/28391132/antenatal-prognostic-factor-of-fetal-echogenic-bowel
#4
Candice Ronin, Pierre Mace, Fabien Stenard, Anderson Loundou, Marianne Capelle, Isabelle Mortier, Marie Christine Pellissier, Sabine Sigaudy, Annie Levy, Claude D'ercole, Pascale Hoffmann, Thierry Merrot, Jonathan Lopater, Pascal De Lagausie, Nicole Philip, Florence Bretelle
OBJECTIVE: The aim of this study was to identify antenatal prognostic factors of neonatal outcomes in cases of fetal echogenic bowel (FEB). STUDY DESIGN: A retrospective study in three tertiary referral centers including fetal echogenic bowel over a 10-year period (from January 2003 to December 2013). The echogenicity of the fetal bowel was graded from 1 to 3, according to Slotnick's definition. Associated echographic findings such as bowel dilations, gallbladder abnormalities, calcifications, extra-abdominal abnormalities, intrauterine growth restriction (IUGR) and a decrease in amniotic fluid volume, if present were also recorded...
March 3, 2017: European Journal of Obstetrics, Gynecology, and Reproductive Biology
https://www.readbyqxmd.com/read/28236314/non-visualization-of-choroid-plexus-of-the-fourth-ventricle-as-a-first-trimester-predictor-of-posterior-fossa-anomalies-and-chromosomal-defects-a-three-dimensional-ultrasound-study
#5
P Martinez-Ten, T Illescas, B Adiego, M Estevez, C Bermejo, A E Wong, W Sepulveda
OBJECTIVE: To assess non-visualization of the choroid plexus of the fourth ventricle (CP-IVV) as a simple, qualitative, and reproducible first-trimester ultrasound feature of the posterior fossa that predicts brain anomalies and chromosomal defects. METHODS: Three-dimensional (3D) ultrasound datasets of the fetal brain were prospectively obtained from 65 consecutive singleton, normal first-trimester fetuses and retrospectively from 27 fetuses identified as having an abnormal fetal posterior fossa on the first-trimester scan, which were randomly included in the final study group...
February 25, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28188115/differential-mantle-transcriptomics-and-characterization-of-growth-related-genes-in-the-diploid-and-triploid-pearl-oyster-pinctada-fucata
#6
Yunyan Guan, Maoxian He, Houbo Wu
To explore the molecular mechanism of triploidy effect in the pearl oyster Pinctada fucata, two RNA-seq libraries were constructed from the mantle tissue of diploids and triploids by Roche-454 massive parallel pyrosequencing. The identification of differential expressed genes (DEGs) between diploid and triploid may reveal the molecular mechanism of triploidy effect. In this study, 230 down-regulated and 259 up-regulated DEGs were obtained by comparison between diploid and triploid libraries. The gene ontology and KEGG pathway analysis revealed more functional activation in triploids and it may due to the duplicated gene expression in transcriptional level during whole genome duplication (WGD)...
February 7, 2017: Marine Genomics
https://www.readbyqxmd.com/read/28181037/de-novo-transcriptome-characterization-and-growth-related-gene-expression-profiling-of-diploid-and-triploid-bighead-catfish-clarias-macrocephalus-g%C3%A3-nther-1864
#7
Satid Chatchaiphan, Prapansak Srisapoome, Jin-Hyoung Kim, Robert H Devlin, Uthairat Na-Nakorn
To enhance understanding of triploid gene expression, the transcriptome information from bighead catfish (Clarias macrocephalus Günther, 1864) was studied using the paired-end Illumina HiSeq™ 2000 sequencing platform. In total, 68,227,832 raw reads were generated from liver tissues and 53,149 unigenes were assembled, with an average length of 765 bp and N50 length of 1283 bp. Of these unigenes, 33,428 (62.89%) could be annotated according to their homology with matches in the NCBI non-redundant (Nr), NCBI nucleotide (Nt), Swiss-Prot, Clusters of Orthologous Groups (COG), gene ontology (GO), or Kyoto Encyclopedia of Genes and Genomes (KEGG) databases...
February 2017: Marine Biotechnology
https://www.readbyqxmd.com/read/28144636/comparative-study-of-growth-and-gonad-maturation-in-diploid-and-triploid-marine-medaka-oryzias-dancena
#8
In-Seok Park, Hyun Woo Gil, Tae Ho Lee, Yoon Kwon Nam, Dong Soo Kim
The marine medaka, Oryzias dancena is a suitable sample as a laboratory animal because it has a small size and clearly distinguishes between female and male. Data on the growth and maturity of the diploid and triploid sea cucurbit species suitable for laboratory animals are very useful for studying other species. Triploidy was induced in the marine medaka by cold shock treatment (0°C) of fertilized eggs for 45 min, applied two minutes after fertilization. The diploid and triploid male fish were larger than their female counterparts (P<0...
December 2016: Balsaeng'gwa Saengsig
https://www.readbyqxmd.com/read/28008737/first-mixoploid-infant-with-full-triploidy-in-blood-cells
#9
Miki Ono, Tomoki Maeda, Kenji Ihara
No abstract text is available yet for this article.
December 2016: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/27913926/maxillary-length-in-euploid-and-aneuploid-fetuses
#10
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
#11
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
#12
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...
December 6, 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
#13
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 22, 2016: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/27793311/women-should-decide-which-conditions-matter
#14
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
#15
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
#16
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.
March 2017: 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
#17
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
#18
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
#19
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...
February 1, 2017: 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
#20
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...
November 2016: Fertility and Sterility
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