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Trisomy 18

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https://www.readbyqxmd.com/read/28328132/revised-estimates-of-the-risk-of-fetal-loss-following-a-prenatal-diagnosis-of-trisomy-13-or-trisomy-18
#1
Alana Cavadino, Joan K Morris
Edwards syndrome (trisomy 18) and Patau syndrome (trisomy 13) both have high natural fetal loss rates. The aim of this study was to provide estimates of these fetal loss rates by single gestational week of age using data from the National Down Syndrome Cytogenetic Register. Data from all pregnancies with Edwards or Patau syndrome that were prenatally detected in England and Wales from 2004 to 2014 was analyzed using Kaplan-Meier survival estimates. Pregnancies were entered into the analysis at the time of gestation at diagnosis, and were considered "under observation" until the gestation at outcome...
April 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28322033/prenatal-diagnosis-of-aberrant-right-subclavian-artery-in-an-unselected-population
#2
Mi Jin Song, Byoung Hee Han, Young-Hwa Kim, So Young Yoon, Yoo Mi Lee, Hye Su Jeon, Bo Kyung Park
Purpose: The purpose of this study was to determine the frequency of aberrant right subclavian artery (ARSA) among unselected fetuses and to evaluate its association with chromosomal abnormalities and other congenital anomalies. Methods: In all, 7,547 fetuses (gestational age, 20 to 34 weeks) were examined using routine antenatal sonography at our institution between April 2014 and September 2015. The right subclavian artery was assessed using grayscale and color Doppler ultrasonography in the transverse 3-vessel and tracheal view, and confirmed in the coronal plane...
February 20, 2017: Ultrasonography
https://www.readbyqxmd.com/read/28301894/transitions-in-care-for-infants-with-trisomy-13-or-18
#3
Jacquelyn Patterson, Genevieve Taylor, Melissa Smith, Sarah Dotters-Katz, Arlene M Davis, Wayne Price
Background and Objectives The scope of interventions offered to infants with trisomy 13 (T13) or trisomy 18 (T18) is increasing. We describe the spectrum of care provided, highlighting transitions in care for individual patients. Patients and Methods This is a single-center, retrospective cohort of infants with T13 or T18 born between 2004 and 2015. Initial care was classified as comfort care or intervention using prenatal counseling notes. Transitions in care were identified in the medical record. Results In this study, 25 infants were divided into two groups based on their care: neonates who experienced no transition in care and neonates who experienced at least one transition...
March 16, 2017: American Journal of Perinatology
https://www.readbyqxmd.com/read/28266009/a-detailed-musculoskeletal-study-of-a-fetus-with-anencephaly-and-spina-bifida-craniorachischisis-and-comparison-with-other-cases-of-human-congenital-malformations
#4
Malak A Alghamdi, Janine M Ziermann, Lydia Gregg, Rui Diogo
Few descriptions of the musculoskeletal system of humans with anencephaly or spina bifida exist in the literature. Even less is published about individuals in which both phenomena occur together, i.e. about craniorachischisis. Here we provide a detailed report on the musculoskeletal structures of a fetus with craniorachischisis, as well as comparisons with the few descriptions for anencephaly and with musculoskeletal anomalies found in other congenital malformations. We focused in particular on the comparison with trisomies 13, 18, and 21 because neural tube defects have been associated with such chromosomal defects...
March 7, 2017: Journal of Anatomy
https://www.readbyqxmd.com/read/28259368/practices-and-attitudes-of-canadian-cardiologists-caring-for-patients-with-trisomy-18
#5
Aisling A Young, Christy Simpson, Andrew E Warren
Trisomy 18 (T18) is a genetic disorder with cardiac lesions in up to 90% of patients. Cardiac surgery is not frequently offered because of the overall poor prognosis, although this has recently been challenged. Our study aimed to explore the practices and attitudes of Canadian pediatric cardiologists managing T18 patients. We administered a survey to pediatric cardiologists attending the Canadian Cardiovascular Congress, Canadian Pediatric Cardiology Association Business Meeting. There were 30 respondents. Most (67%) supported comfort care for affected patients with a heart lesion...
November 17, 2016: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28248967/improving-the-positive-predictive-value-of-non-invasive-prenatal-screening-nips
#6
Charles M Strom, Ben Anderson, David Tsao, Ke Zhang, Yan Liu, Kayla Livingston, Christopher Elzinga, Matthew Evans, Quoclinh Nguyen, David Wolfson, Charles Rowland, Paula Kolacki, Megan Maxwell, Jia-Chi Wang, Douglas Rabin, Joseph Catanese, Renius Owen, Corey Braastad, Weimin Sun
We evaluated performance characteristics of a laboratory-developed, non-invasive prenatal screening (NIPS) assay for fetal aneuploidies. This assay employs massively parallel shotgun sequencing with full automation. GC sequencing bias correction and statistical smoothing were performed to enhance discrimination of affected and unaffected pregnancies. Maternal plasma samples from pregnancies with known aneuploidy status were used for assay development, verification, and validation. Assay verification studies using 2,085 known samples (1873 unaffected, 69 trisomy 21, 20 trisomy 18, 17 trisomy 13) demonstrated complete discrimination between autosomal trisomy (Z scores >8) and unaffected (Z scores <4) singleton pregnancies...
2017: PloS One
https://www.readbyqxmd.com/read/28238454/moving-toward-a-shared-process-the-impact-of-parent-experiences-on-perinatal-palliative-care
#7
Susan L Hasegawa, Jessica T Fry
Perinatal palliative care programs seek to support parents expecting a baby diagnosed with a serious medical condition. Clinicians have increasingly recognized the importance of parental perspectives on the medical care mothers and their fetuses and live-born children receive, especially regarding factors influencing individual choices and knowledge of the medical community. We describe, using literature on trisomy 13 and trisomy 18, how information shared between parents and providers can improve perinatal counseling and family support...
February 23, 2017: Seminars in Perinatology
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
#8
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/28211984/prenatal-diagnosis-of-inverted-duplication-deletion-8p-syndrome-mimicking-trisomy-18
#9
Mehmet Ozgur Akkurt, Amanda Higgs, Ozerk T Turan, Ozhan M Turan, Sifa Turan
Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28192554/using-patient-centered-care-after-a-prenatal-diagnosis-of-trisomy-18-or-trisomy-13-a-review
#10
Shelly Haug, Mitchell Goldstein, Denise Cummins, Elba Fayard, T Allen Merritt
Importance: Patient-centered care (PCC) has been advocated by the Institute of Medicine to improve health care in the United States. Four concepts of PCC align with clinical ethics principles and are associated with enhanced patient/parent satisfaction. These concepts are dignity and respect, information sharing, participation, and collaboration. The objective of this article is to use the PCC approach as a framework for an extensive literature review evaluating the current status of counseling regarding prenatal diagnosis of trisomy 18 (T18) or trisomy 13 (T13) and to advocate PCC in the care of these infants...
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28192544/shared-decision-making-for-children-with-trisomy-13-and-18
#11
Jeffrey P Brosco, Chris Feudtner
No abstract text is available yet for this article.
February 13, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28190861/acute-undifferentiated-leukemia-stem-cell-acute-leukemia-showing-differentiation-to-langerhans-cell-like-cells-in-lymph-nodes
#12
Takanori Fukuta, Shu Nakamoto, Yoshinori Hashimoto, Takayuki Tanaka, Yusuke Tokuyasu, Junko Maruyama, Hiromi Omura, Norihiko Hino, Satoshi Kuwamoto, Ichiro Murakami
A 75-year-old woman was referred to our hospital with suspected leukemia. Complete blood count demonstrated WBC 3,810/µl with 26% blasts, Hb of 11.7 g/dl and Plt of 18.0×10(4)/µl. Bone marrow aspiration revealed blasts (86.3%) with expressions of CD34, CD7, TdT, CD33, and CD117. MPO was negative. Chromosomal analysis of the bone marrow showed isolated trisomy 10 in all leukemic cells (20/20). Swelling of superficial lymph nodes was also observed. Cervical lymph node biopsy revealed leukemic blasts which had the same phenotype as those in the bone marrow except that proliferation of Langerhans cell-like cells (LCs) was observed in the paracortex...
2017: [Rinshō Ketsueki] the Japanese Journal of Clinical Hematology
https://www.readbyqxmd.com/read/28185147/incompatible-with-care-examining-trisomy-18-medical-discourse-and-families-counter-discourse-for-recuperative-ethos
#13
Megan J Thorvilson, Adam J Copeland
Parents whose child is diagnosed with a serious disease such as trisomy 18 first rely on the medical community for an accurate description and prognosis. In the case of trisomy 18, however, many families are told the disease is "incompatible with life" even though some children with the condition live for several years. This paper considers parents' response to current medical discourse concerning trisomy 18 by examining blogs written by the parents of those diagnosed. Using interpretive humanistic reading and foregrounding Cathryn Molloy's recuperative ethos theory (2015), we find that parents demonstrate recuperative ethos in response to physicians' descriptions of trisomy 18, particularly in rhetoric addressing survival, medicalized language, and religious and/or spiritual rhetoric...
February 10, 2017: Journal of Medical Humanities
https://www.readbyqxmd.com/read/28177551/the-significance-of-a-prenatal-diagnosis-of-right-aortic-arch
#14
Anna Wójtowicz, Maria Respondek-Liberska, Maciej Słodki, Paulina Kordjalik, Joanna Płużańska, Anna Knafel, Hubert Huras
OBJECTIVES: To analyze a population of fetuses with prenatally diagnosed right aortic arch (RAA). METHODS: Retrospective study of fetuses with RAA diagnosed prenatally between 2011 and 2015 in 2 referral centers. RESULTS: RAA was found in 4.4% (46/1036) of fetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, RAA was present in 30.4% of cases; in 32.6%, other CVA were detected; in 23.9%, CVA and extracardiac anomalies; and in 13...
February 8, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28171857/the-iona%C3%A2-test-development-of-an-automated-cell-free-dna-based-screening-test-for-fetal-trisomies-13-18-and-21-that-employs-the-ion-proton-semiconductor-sequencing-platform
#15
Francesco Crea, Matthew Forman, Rachel Hulme, Robert W Old, Dan Ryan, Rosalyn Mazey, Michael D Risley
OBJECTIVE: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA from maternal blood with an automated workflow using the Ion Proton sequencing platform. METHODS: An automated next-generation sequencing workflow was developed using the Ion Proton sequencing platform and software developed for straightforward bioinformatic analysis. An algorithm was developed using 239 samples to determine the likelihood of trisomy, using DNA fragment counts and a fetal fraction validity check; the results were compared with those from invasive diagnostic procedures...
February 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28164510/the-status-of-quality-control-investigation-and-analysis-for-maternal-serum-marker-of-prenatal-screening-laboratories-in-china
#16
Falin He, Wei Wang, Kun Zhong, Shuai Yuan, Zhiguo Wang
BACKGROUND: This national survey was initiated to investigate the current status of quality control practice of prenatal screening by statistical analysis of the previous half year data of prenatal screening in 2015. METHODS: Data were sent to all Chinese prenatal screening centers via the National Quality Assessment Scheme. This covered the software used, the risk cutoffs, monthly sample throughput, monthly median MoM of AFP, HCG, β-HCG, free β-HCG and uE3, monthly screening positive rates for trisomy 21, trisomy 18, and Open Neural Tube Defect (ONTD)...
January 1, 2017: Clinical Laboratory
https://www.readbyqxmd.com/read/28152233/incidence-and-prognostic-significance-of-isolated-trisomies-in-adult-acute-myeloid-leukemia-a-population-based-study-from-the-swedish-aml-registry
#17
Vladimir Lazarevic, Aldana Rosso, Gunnar Juliusson, Petar Antunovic, Åsa Rangert Derolf, Stefan Deneberg, Lars Möllgård, Bertil Uggla, Lovisa Wennström, Anders Wahlin, Martin Höglund, Sören Lehmann, Bertil Johansson
To ascertain the incidence/clinical implications of isolated autosomal trisomies in adult acute myeloid leukemia (AML), all such cases were retrieved from the Swedish AML Registry RESULTS: Of the 3,179 cytogenetically informative AMLs diagnosed January 1997 - May 2015, 246 (7.7%) had isolated trisomies. The frequency increased by age (2.4% at age 18-60 years vs. 23% at >60 years; P < 0.0001); the median age was 69 years. The five most common were +8 (4.0%), +13 (0.9%), +11 (0.8%), +21 (0.7%), and +4 (0...
February 2, 2017: European Journal of Haematology
https://www.readbyqxmd.com/read/28126630/automatic-detection-and-measurement-of-nuchal-translucency
#18
Giuseppa Sciortino, Domenico Tegolo, Cesare Valenti
In this paper we propose a new methodology to support the physician both to identify automatically the nuchal region and to obtain a correct thickness measurement of the nuchal translucency. The thickness of the nuchal translucency is one of the main markers for screening of chromosomal defects such as trisomy 13, 18 and 21. Its measurement is performed during ultrasound scanning in the first trimester of pregnancy. The proposed methodology is mainly based on wavelet and multi resolution analysis. The performance of our method was analysed on 382 random frames, representing mid-sagittal sections, uniformly extracted from real clinical ultrasound videos of 12 patients...
March 1, 2017: Computers in Biology and Medicine
https://www.readbyqxmd.com/read/28105149/t-14-18-q32-q21-in-chronic-lymphocytic-leukemia-patients-report-of-two-cases-and-a-literature-review
#19
Weifeng Chen, Yi Miao, Rong Wang, Yujie Wu, Hairong Qiu, Wei Xu, Jianyong Li, Lei Fan, Xin Xu
The chromosomal abnormality t(14;18)(q32;q21) is most commonly associated with germinal center-derived B-cell lymphomas, particularly follicular lymphoma (FL). Generally, it is considered a hallmark of FL. The t(14;18)(q32;q21) translocation is rare in chronic lymphocytic leukemia (CLL) and its prognostic significance remains unclear. In the present study, two cases of CLL with t(14;18)(q32;q21) were diagnosed using conventional cytogenetic analysis and fluorescence in situ hybridization. Both patients presented with leukemia and the morphological features and immunophenotypes were typical of CLL...
December 2016: Oncology Letters
https://www.readbyqxmd.com/read/28100318/-clinical-characteristics-of-clonal-evolution-after-immunosuppressive-therapy-in-children-with-severe-very-severe-aplastic-anemia
#20
Jing-Liao Zhang, Tian-Feng Liu, Li-Xian Chang, Xia Chen, Yuan-Yuan Ren, Cong-Cong Sun, Chao Liu, Wen-Bin An, Yang Wan, Xiao-Juan Chen, Wen-Yu Yang, Shu-Chun Wang, Ye Guo, Yao Zou, Yu-Mei Chen, Xiao-Fan Zhu
OBJECTIVE: To evaluate the clinical characteristics and risk factors of clonal evolution after immunosuppressive therapy (IST) in children with severe/very severe aplastic anemia (SAA/VSAA). METHODS: The clinical data of 231 children with newly-diagnosed SAA/VSAA who received IST were retrospectively studied. The incidence and risk factors of clonal evolution after IST were analyzed. RESULTS: The 5-year overall survival rate of the 231 patients was 82...
January 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
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