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"Edwards Syndrome"

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https://www.readbyqxmd.com/read/27617135/a-case-of-anterior-segment-dysgenesis-with-iridolenticular-adhesions-in-trisomy-18
#1
Paldeep S Atwal
Trisomy 18 (or Edwards syndrome) has an incidence of 1 in 6,000 to 8,000 live births, making it the second most common trisomy after trisomy 21. Ophthalmologic anomalies include epicanthal folds, hypertelorism, and hypoplastic supraorbital ridges, whereas corneal opacities, microcornea, congenital glaucoma, cataract, retinal depigmentation, retinal vascular tortuosity, colobomatous microphthalmia, and cyclopia are thought to be less common; iridolenticular adhesions have not been previously reported. Our patient was a female with confirmed trisomy 18 with ophthalmologic examination revealing corneal opacities and iridolenticular adhesions...
December 2015: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/27525073/anesthetic-management-of-a-patient-with-edwards-syndrome
#2
Stephanie Mifsud, Maureen Bezzina, Simon Paris
The use of suxamethonium in our case was uneventful and despite craniofacial anomalies, airway management was straightforward. This case illustrates that pediatric patients with trisomy 18, presenting with potentially acute life-threatening conditions and requiring emergency major surgery can be managed successfully with a multidisciplinary approach.
August 2016: Clinical Case Reports
https://www.readbyqxmd.com/read/27490343/microarray-based-analysis-of-methylation-of-1st-trimester-trisomic-placentas-from-down-syndrome-edwards-syndrome-and-patau-syndrome
#3
Lotte Hatt, Mads M Aagaard, Cathrine Bach, Jesper Graakjaer, Steffen Sommer, Inge E Agerholm, Steen Kølvraa, Anders Bojesen
Methylation-based non-invasive prenatal testing of fetal aneuploidies is an alternative method that could possibly improve fetal aneuploidy diagnosis, especially for trisomy 13(T13) and trisomy 18(T18). Our aim was to study the methylation landscape in placenta DNA from trisomy 13, 18 and 21 pregnancies in an attempt to find trisomy-specific methylation differences better suited for non-invasive prenatal diagnosis. We have conducted high-resolution methylation specific bead chip microarray analyses assessing more than 450,000 CpGs analyzing placentas from 12 T21 pregnancies, 12 T18 pregnancies and 6 T13 pregnancies...
2016: PloS One
https://www.readbyqxmd.com/read/27474103/a-tumor-profile-in-edwards-syndrome-trisomy-18
#4
Daniel Satgé, Motoi Nishi, Nicolas Sirvent, Michel Vekemans
Constitutional trisomy 18 causes Edwards syndrome, which is characterized by intellectual disability and a particular set of malformations. Although this condition carries high mortality during prenatal and early postnatal life, some of the rare infants who survive the first months develop benign and malignant tumors. To determine the tumor profile associated with Edwards syndrome, we performed a systematic review of the literature. This review reveals a tumor profile differing from those of Down (trisomy 21) and Patau (trisomy 13) syndromes...
September 2016: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/27366581/anaesthesia-management-for-edward-s-syndrome-trisomy-18
#5
Çağla Bali, Özlem Özmete, Pınar Ergenoğlu, Şule Akın, Anış Arıboğan
No abstract text is available yet for this article.
June 2016: Turkish Journal of Anaesthesiology and Reanimation
https://www.readbyqxmd.com/read/27323182/genetic-polymorphisms-of-loci-d18s53-d18s59-and-d18s488-in-fetuses-from-a-chinese-tianjin-han-population
#6
X Z Li, J Liu, Y F Shi, D Ju, Y Zhang, T F Yue
We investigated the genetic polymorphisms of three short tandem repeat (STR) loci, D18S53, D18S59, and D18S488, on chromosome 18 in fetuses from a Chinese Tianjin Han population. Sixty-four villus samples and 374 amniotic fluid samples were collected from fetuses. Quantitative fluorescence polymerase chain reaction was performed to amplify the STR loci, followed by scanned electrophoresis and quantitative analysis of the fluorescence signals. Hardy-Weinberg equilibrium (HWE) analysis was performed based on the genotype distributions of the STR loci to obtain the following population genetic data: genotype frequency, heterozygosity of observation (HO), polymorphism information content (PIC), probability of discrimination power (PD), and probability of exclusion (PE)...
2016: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26770846/aberrant-barbed-wire-nuclear-projections-of-neutrophils-in-trisomy-18-edwards-syndrome
#7
Basil M Kahwash, Nicholas B Nowacki, Samir B Kahwash
We discuss the significance of neutrophils with increased, aberrant nuclear projections mimicking "barbed-wire" in a newborn child with trisomy 18 (T18). Increased, aberrant nuclear projections have been previously reported in trisomy of the D group of chromosomes (chromosomes 13, 14, and 15), and we report similar findings in a patient with T18. The peripheral blood smear showed relative neutrophilia with the majority (37%) of neutrophils showing two or more thin, rod-shaped or spike-shaped, and often pedunculated aberrant nuclear projections...
2015: Case Reports in Hematology
https://www.readbyqxmd.com/read/26752631/two-dimensional-differential-gel-electrophoresis-to-identify-protein-biomarkers-in-amniotic-fluid-of-edwards-syndrome-trisomy-18-pregnancies
#8
Te-Yao Hsu, Hao Lin, Hsuan-Ning Hung, Kuender D Yang, Chia-Yu Ou, Ching-Chang Tsai, Hsin-Hsin Cheng, Su-Hai Chung, Bi-Hua Cheng, Yi-Hsun Wong, An Kuo Chou, Chang-Chun Hsiao
BACKGROUND: Edwards syndrome (ES) is a severe chromosomal abnormality with a prevalence of about 0.8 in 10,000 infants born alive. The aims of this study were to identify candidate proteins associated with ES pregnancies from amniotic fluid supernatant (AFS) using proteomics, and to explore the role of biological networks in the pathophysiology of ES. METHODS: AFS from six second trimester pregnancies with ES fetuses and six normal cases were included in this study...
2016: PloS One
https://www.readbyqxmd.com/read/26561224/phenotypic-extremes-in-liveborn-monozygotic-twins-with-mosaic-edwards-syndrome
#9
Neidin Bussmann, Katie Cunningham, Andrew Green, C Anthony Ryan
Mosaic trisomy 18 (Edwards syndrome) in monozygotic diamniotic liveborn twins is rare. We describe such a case involving preterm male infants. Although both infants had a low percentage of trisomy 18 cells in peripheral blood leucocytes, their varied phenotypic presentation of mosaic trisomy 18 resulted in one twin surviving, with the other twin's demise at 1 month of age. Despite the presence of trisomy 18 in peripheral leucocytes, further analysis of a buccal smear and skin biopsy of the surviving twin did not show evidence of trisomy 18...
2015: BMJ Case Reports
https://www.readbyqxmd.com/read/26530119/-non-invasive-prenatal-testing-challenges-for-future-implementation
#10
Lidewij Henneman, G C M L Lieve Page-Chrisiaens, Dick Oepkes
The non-invasive prenatal test (NIPT) is an accurate and safe test in which blood from the pregnant woman is used to investigate if the unborn child possibly has trisomy 21 (Down's syndrome), trisomy 18 (Edwards' syndrome) or trisomy 13 (Patau syndrome). Since April 2014 the NIPT has been available in the Netherlands as part of the TRIDENT implementation project for those in whom the first trimester combined test showed an elevated risk (> 1:200) of trisomy, or on medical indication, as an alternative to chorionic villous sampling or amniocentesis...
2015: Nederlands Tijdschrift Voor Geneeskunde
https://www.readbyqxmd.com/read/26507407/cytogenetic-studies-of-rwandan-pediatric-patients-presenting-with-global-developmental-delay-intellectual-disability-and-or-multiple-congenital-anomalies
#11
Annette Uwineza, Janvier Hitayezu, Mauricette Jamar, Jean-Hubert Caberg, Seraphine Murorunkwere, Ndinkabandi Janvier, Vincent Bours, Leon Mutesa
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA)...
February 2016: Journal of Tropical Pediatrics
https://www.readbyqxmd.com/read/26453443/an-analysis-of-cardiac-defects-and-surgical-interventions-in-84-cases-with-full-trisomy-18
#12
Deborah A Bruns, Alyssa Martinez
Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes...
February 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/26400291/systematic-review-of-noninvasive-prenatal-diagnosis-for-abnormal-chromosome-genetic-diseases-using-free-fetal-dna-in-maternal-plasma
#13
REVIEW
H Yang, H B Xu, T T Liu, X L He
We evaluated the system accuracy of noninvasive prenatal diagnosis for abnormal chromosome genetic diseases using cell-free fetal DNA in maternal plasma. Previous studies were searched in the MEDLINE database using the following keywords: "prenatal" and "aneuploidy" and "noninvasive or non-invasive" and "maternal". Identified studies were filtered using a QUADAS instrument. Four studies were identified and analyzed using QUADAS. The studies included 4167 cases of Down syndrome patients determined by noninvasive prenatal diagnosis with a sensitivity of 100% and specificity of 99...
2015: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/26324424/correction-of-down-syndrome-and-edwards-syndrome-aneuploidies-in-human-cell-cultures
#14
Tomokazu Amano, Emiko Jeffries, Misa Amano, Akihiro C Ko, Hong Yu, Minoru S H Ko
Aneuploidy, an abnormal number of chromosomes, has previously been considered irremediable. Here, we report findings that euploid cells increased among cultured aneuploid cells after exposure to the protein ZSCAN4, encoded by a mammalian-specific gene that is ordinarily expressed in preimplantation embryos and occasionally in stem cells. For footprint-free delivery of ZSCAN4 to cells, we developed ZSCAN4 synthetic mRNAs and Sendai virus vectors that encode human ZSCAN4. Applying the ZSCAN4 biologics to established cultures of mouse embryonic stem cells, most of which had become aneuploid and polyploid, dramatically increased the number of euploid cells within a few days...
October 2015: DNA Research: An International Journal for Rapid Publication of Reports on Genes and Genomes
https://www.readbyqxmd.com/read/26309618/detection-of-fetal-cell-free-dna-in-maternal-plasma-for-down-syndrome-edward-syndrome-and-patau-syndrome-of-high-risk-fetus
#15
Wei-Lin Ke, Wei-Hua Zhao, Xin-Yu Wang
OBJECTIVE: The study aimed to validate the efficacy of detection of fetal cell-free DNA in maternal plasma of trisomy 21, 18 and 13 in a clinical setting. METHODS: A total of 2340 women at high risk for Down syndrome based on maternal age, prenatal history or a positive sesum or sonographic screening test were offered prenatal noninvasive aneuploidy test. According to the prenatal noninvasive aneuploidy test, the pregnant women at high risk were offered amniocentesis karyotype analysis and the pregnant at low risk were followed up to make sure the newborn outcome...
2015: International Journal of Clinical and Experimental Medicine
https://www.readbyqxmd.com/read/26258091/screening-of-fetal-chromosome-aneuploidies-in-the-first-and-second-trimester-of-125-170-iranian-pregnant-women
#16
Elham Seyyed Kavoosi, Sarang Younessi, Dariush D Farhud
BACKGROUND: Aneuploidy is one of the main causes of congenital anomalies, mental and physical disabilities, in newborns. The aim of this study was to determine various chromosomal aneuploidies in the first and second trimester screening of pregnant women, in Iran. METHODS: A descriptive retrospective study was conducted on 125,170 pregnant women referred to a major referral medical diagnostic laboratory (Niloo Laboratory, Tehran) for prenatal screening tests (2010-2013)...
June 2015: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/26037359/-association-of-mthfr-and-mtrr-genes-polymorphisms-with-non-disjunctions-of-chromosomes-18-and-21
#17
Qiannan Guo, Hongdan Wang, Ke Yang, Bo Zhang, Tao Li, Shixiu Liao
OBJECTIVE: To explore the effect of MTHFR and MTRR genes polymorphisms on chromosomes 18 and 21 non-disjunction through investigation of Henan Han Chinese young females with a gestational history of trisomy 21 (Down syndrome, DS) or trisomy 18 (Edwards syndrome, ES). METHODS: Polymorphisms of MTHFR 677C/T, MTHFR 1298A/C and MTRR 66A/G were analyzed in 73 healthy females (controls group), 78 females with a gestational history of DS (DS group) and 54 females with a gestational history of ES (ES group) by direct sequencing of PCR products from amplification of peripheral blood lymphocyte DNA...
June 2015: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/26018729/genetically-induced-abnormal-cranial-development-in-human-trisomy-18-with-holoprosencephaly-comparisons-with-the-normal-tempo-of-osteogenic-neural-development
#18
Shaina N Reid, Janine M Ziermann, Marjorie C Gondré-Lewis
Craniofacial malformations are common congenital defects caused by failed midline inductive signals. These midline defects are associated with exposure of the fetus to exogenous teratogens and with inborn genetic errors such as those found in Down, Patau, Edwards' and Smith-Lemli-Opitz syndromes. Yet, there are no studies that analyze contributions of synchronous neurocranial and neural development in these disorders. Here we present the first in-depth analysis of malformations of the basicranium of a holoprosencephalic (HPE) trisomy 18 (T18; Edwards' syndrome) fetus with synophthalmic cyclopia and alobar HPE...
July 2015: Journal of Anatomy
https://www.readbyqxmd.com/read/26005269/combined-use-of-cytogenetic-and-molecular-methods-in-prenatal-diagnostics-of-chromosomal-abnormalities
#19
Meliha Stomornjak-Vukadin, Ilvana Kurtovic-Basic, Lejla Mehinovic, Rijad Konjhodzic
AIM: The aim of prenatal diagnostics is to provide information of the genetic abnormalities of the fetus early enough for the termination of pregnancy to be possible. Chromosomal abnormalities can be detected in an unborn child through the use of cytogenetic, molecular- cytogenetic and molecular methods. In between them, central spot is still occupied by cytogenetic methods. In cases where use of such methods is not informative enough, one or more molecular cytogenetic methods can be used for further clarification...
April 2015: Acta Informatica Medica: AIM
https://www.readbyqxmd.com/read/25593701/ultrasound-features-in-trisomy-13-patau-syndrome-and-trisomy-18-edwards-syndrome-in-a-consecutive-series-of-47-cases
#20
I Kroes, S Janssens, P Defoort
OBJECTIVE: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. MATERIALS AND METHODS: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology...
2014: Facts, Views & Vision in ObGyn
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