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"Trisomy 13"

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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/28301894/transitions-in-care-for-infants-with-trisomy-13-or-18
#2
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/28285557/trisomy-13-with-prenatally-diagnosed-congenital-cystic-adenomatoid-malformation-and-hernia-of-the-umbilical-cord-a-case-report
#3
Kohei Nakamura, Showa Aoki, Tomoko Ishihara, Kentaro Nakayama, Haruhiko Kanasaki, Satoru Kyo
No abstract text is available yet for this article.
March 13, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28266126/the-outcomes-of-31-cases-of-trisomy-13-diagnosed-in-utero-with-various-management-options
#4
Ken Takahashi, Aiko Sasaki, Seiji Wada, Yuka Wada, Keiko Tsukamoto, Rika Kosaki, Yushi Ito, Haruhiko Sago
There are few reports on the prognosis of prenatally diagnosed trisomy 13 in relation to postnatal management. The aim of this study was to report on the prenatal and postnatal outcomes and postnatal management of trisomy 13 fetuses that were prenatally diagnosed at our center between 2003 and 2015. The data were retrospectively reviewed from medical records. Of the 31 cases of trisomy 13, 12 patients were diagnosed before 22 weeks of gestation, and 19 were diagnosed at or after 22 weeks of gestation. Nine families opted for termination of the pregnancy, 14 fetuses died, and 8 were born alive...
March 7, 2017: American Journal of Medical Genetics. Part A
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
#5
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/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/28195512/neuroradiological-findings-of-trisomy-13-in-a-rare-long-term-survivor
#9
Ryan D Goff, Bruno P Soares
Patau syndrome remains a difficult diagnosis for parents and a challenging conversation for clinicians due to the overall poor prognosis. Previous population-based reports have documented the sobering life expectancies of these patients, with few surviving to 1 year of age. Despite the high mortality rate in infants born with trisomy 13, there are several reports of survival into late childhood and early adulthood. While clinical outcomes have been well documented, there has been a paucity of literature describing postnatal imaging findings in long-term survivors...
January 1, 2017: Neuroradiology Journal
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/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
#12
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/28126630/automatic-detection-and-measurement-of-nuchal-translucency
#13
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/28089975/in-vitro-fertilization-in-37-women-with-systemic-lupus-erythematosus-or-antiphospholipid-syndrome-a-series-of-97-procedures
#14
Pauline Orquevaux, Agathe Masseau, Véronique Le Guern, Vanessa Gayet, Danièle Vauthier, Gaelle Guettrot-Imbert, Du Le Thi Huong, Bertrand Wechsler, Nathalie Morel, Patrice Cacoub, Jean-Loup Pennaforte, Jean-Charles Piette, Nathalie Costedoat-Chalumeau
OBJECTIVE: To compile and assess data about complication and success rates for in vitro fertilization (IVF) of women with systemic lupus erythematosus (SLE) and/or antiphospholipid syndrome (APS). To date, such data are sparse. METHODS: This retrospective study described women with SLE and/or APS who have had at least 1 IVF cycle. RESULTS: Thirty-seven women with SLE (n = 23, including 8 with antiphospholipid antibodies), SLE with APS (n = 4), or primary APS (n = 10) underwent 97 IVF procedures...
January 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28079873/major-anomalies-and-birth-weight-influence-nicu-interventions-and-mortality-in-infants-with-trisomy-13-or-18
#15
K Acharya, S Leuthner, R Clark, T H Nghiem-Rao, A Spitzer, J Lagatta
OBJECTIVE: To describe neonatal intensive care unit (NICU) medical interventions and NICU mortality by birth weight and major anomaly types for infants with trisomy 13 (T13) or 18 (T18). STUDY DESIGN: Retrospective cohort analysis of infants with T13 or T18 from 2005 to 2012 in the Pediatrix Medical Group. We classified infants into three groups by associated anomaly type: neonatal surgical, non-neonatal surgical and minor. Outcomes were NICU medical interventions and mortality...
January 12, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28056858/the-impact-of-national-prenatal-screening-on-the-time-of-diagnosis-and-outcome-of-pregnancies-affected-with-common-trisomies-a-cohort-study-in-the-northern-netherlands
#16
Katelijne Bouman, Marian K Bakker, Erwin Birnie, Lies Ter Beek, Caterina M Bilardo, Irene M van Langen, Hermien E K de Walle
BACKGROUND: To evaluate the impact of the introduction of prenatal screening on time of detection and pregnancy outcome for trisomy 21 (T21), trisomy 18 (T18) and trisomy 13 (T13). METHODS: We performed a retrospective, population-based cohort study in the Northern Netherlands including 503 trisomy cases born between 2005 and 2012. Screening tests and invasive procedures, timing of diagnosis and pregnancy outcome were compared between the period before (2005-2006) and after introduction (2007-2012) using X (2) tests...
January 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28026791/intelligent-non-invasive-diagnosis-of-aneuploidy-raw-values-and-highly-imbalanced-dataset
#17
Andreas Neocleous, Kypros Nicolaides, Christos Schizas
The objective of this work is to introduce a noninvasive diagnosis procedure for aneuploidy and minimize the social and financial cost of prenatal diagnosis tests that are performed for fetal aneuploidies in an early stage of pregnancy. We propose a method using artificial neural networks trained with data from singleton pregnancy cases, while undergoing first trimester screening. Three different datasets1 with a total of 122362 euploid and 967 aneuploid cases were used in this study. The data for each case contained markers collected from the mother and the fetus...
December 22, 2016: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28019075/surviving-with-trisomy-13-provider-and-parent-perspectives-and-the-role-of-the-pediatric-palliative-care-program
#18
Duc Chung, Kristina Haynes, Russell Haynes
Trisomy 13 typically denotes an overall poor prognosis in the setting of multisystem anomalies. Through a provider and parent perspective, this case illustrates the benefit of hope, communication, and teamwork through the integration of a palliative care team in the care of a medically complex child with trisomy 13, resulting in enhance survival and perceived quality of life for patient and family. © 2016 Wiley Periodicals, Inc.
December 25, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28010042/should-we-open-the-kimono-to-release-the-results-of-rare-autosomal-aneuploidies-following-noninvasive-prenatal-whole-genome-sequencing
#19
Diana W Bianchi
The metaphor 'open kimono' has been applied in the business world to connote transparency via the release of all available data to an external party. Here, the author uses this term to discuss the relative advantages and disadvantages of reporting on the presence of rare autosomal aneuploidies detected by massively parallel sequencing of placental cell-free DNA in the plasma of pregnant women. Newly presented data sets from multiple laboratories suggest that autosomal aneuploidies such as trisomies 7, 15, 16, 22, and 8 are easily detectable and are potentially associated with fetal growth restriction, pregnancy loss, and maternal preeclampsia...
December 23, 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27981672/performance-evaluation-of-the-neobona-test-a-new-paired-end-massive-parallel-shotgun-sequencing-approach-for-cfdna-based-aneuploidy-screening
#20
Vincenzo Cirigliano, Elena Ordoñez, Laura Rueda, Argyro Syngelaki, Kypros H Nicolaides
OBJECTIVE: To assess the performance of screening for fetal trisomies 21, 18 and 13 by cell-free DNA (cfDNA) analysis of maternal blood using a new method based on paired-end massive parallel shotgun sequencing (MPSS). METHODS: Blind study of 1000 plasma samples (1 mL) obtained from women undergoing screening for trisomies 21, 18 and 13 at 11-13 weeks' gestation. The study included 50 cases with confirmed fetal trisomy 21, 30 with trisomy 18, 10 with trisomy 13 and 910 unaffected pregnancies...
December 15, 2016: Ultrasound in Obstetrics & Gynecology
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