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Trisomy 18

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https://www.readbyqxmd.com/read/29781076/first-trimester-combined-screening-for-fetal-aneuploidies-enhanced-with-additional-ultrasound-markers-an-8-year-prospective-study
#1
Dragos Nemescu, Adina Bratie, Alexandra Mihaila, Dan Navolan, Adina Tanase
OBJECTIVES: To describe our screening population and audit of the performance of first-trimester screening for Down syndrome, based on a combined test, enhanced with additional ultrasound markers, over the whole period of the study. MATERIAL AND METHODS: We performed a prospective study from 2009 to 2016, which included 1358 singleton fetuses with a crown-rump length of 45-84 mm. The risk of aneuploidy was calculated using nuchal translucency, fetal heart rate (FHR), and additional markers, such as nasal bone (NB), tricuspid flow (TF) and ductus venosus (DV), combined with maternal serum free β-human chorionic gonadotropin (fβ-hCG) and pregnancy-associated plasma protein-A (PAPP-A)...
2018: Ginekologia Polska
https://www.readbyqxmd.com/read/29779347/-clinical-analysis-of-70-chronic-lymphocytic-leukemia-patients-with-trisomy-12-detected-by-fish
#2
R Lyu, Z J Li, H Li, S H Yi, W Liu, T Y Wang, W J Xiong, L G Qiu
Objective: To summarize and investigate the characteristics, prognosis and treatments of chronic lymphocytic leukemia (CLL) patients with trisomy 12 by using FISH (CEP12). Methods: Clinical data of 330 CLL patients were analyzed retrospectively by using FISH (CEP12) to detect trisomy 12 from May 2003 to April 2015. The clinical data and laboratory characteristics of CEP12 positive patients (70 cases) were compared with those CEP12 negative patients (260 cases). Results: Compared with CEP12 negative CLL patients, the proportion of hepatomegaly (13...
May 14, 2018: Zhonghua Xue Ye Xue za Zhi, Zhonghua Xueyexue Zazhi
https://www.readbyqxmd.com/read/29770994/syndromes-associated-with-holoprosencephaly
#3
Paul Kruszka, Maximilian Muenke
Holoprosencephaly (HPE) is partial or complete failure of the forebrain to divide into hemispheres and can be an isolated finding or associated with a syndrome. Most cases of HPE are associated with a syndrome and roughly 40%-60% of fetuses with HPE have trisomy 13 which is the most common etiology of HPE. Other syndromes associated with HPE include additional aneuploidies like trisomy 18 and single gene disorders such as Smith-Lemli-Opitz syndrome. There are a number of syndromes such as pseudotrisomy 13 which do not have a known molecular etiology; therefore, this review has two parts: syndromes with a molecular diagnosis and syndromes where the etiology is yet to be found...
May 17, 2018: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/29767679/recurrent-cytogenetic-abnormalities-in-intravascular-large-b-cell-lymphoma
#4
Matthew M Klairmont, Jinjun Cheng, Mike G Martin, Joel F Gradowski
Objectives: Data characterizing the cytogenetic landscape of intravascular large B-cell lymphoma (ILBCL) are limited. Here, we developed a comprehensive karyotypic data set to identify recurrent cytogenetic abnormalities in ILBCL. Methods: Cases of ILBCL with complete cytogenetic analysis were identified from an institutional database and the literature. The combined data were systematically reviewed for the presence of recurrent abnormalities. Results: Four new cases were identified and combined with 25 karyotypes previously published in the literature...
May 14, 2018: American Journal of Clinical Pathology
https://www.readbyqxmd.com/read/29740195/prenatal-counseling-and-parental-decision-making-following-a-fetal-diagnosis-of-trisomy-13-or-18
#5
Phoebe Winn, Krishna Acharya, Erika Peterson, Steven Leuthner
OBJECTIVES: To evaluate parental decisions following a prenatal diagnosis of trisomy 13 (T13) or trisomy 18 (T18), prenatal counseling received, and pregnancy outcomes. STUDY DESIGN: Single-center, retrospective cohort study of families with a prenatal diagnosis of T13 or T18 from 2000 to 2016. RESULTS: Out of 152 pregnancies, 55% were terminated. Twenty percent chose induction with palliative care, 20% chose expectant management, 2% chose full interventions, and 3% were lost to follow-up...
May 8, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29734982/prevalence-of-obstructive-sleep-apnea-in-children-with-down-syndrome-a-meta-analysis
#6
Chia-Fan Lee, Chia-Hsuan Lee, Wan-Yi Hsueh, Ming-Tzer Lin, Kun-Tai Kang
STUDY OBJECTIVES: To estimate the prevalence of obstructive sleep apnea (OSA) in children with Down syndrome. METHODS: Two authors independently searched databases, namely PubMed, MEDLINE, EMBASE, and the Cochrane Review database. The keywords used were "Down syndrome," "Trisomy 21," "OSA," "sleep apnea syndromes," "polysomnography" and "polygraphy." The prevalence of OSA based on apnea-hypopnea index (AHI) greater than 1, 1...
April 30, 2018: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/29732662/survival-in-double-aneuploidy-involving-trisomy-18-and-sex-chromosome-trisomy-a-case-report-of-a-27-month-old-child-and-a-review-of-the-literature
#7
Takahide Watabe, Hiroshi Koga
Maternal meiotic nondisjunction can cause autosomal trisomy, such as trisomy 13, 18, and 21, and parental meiotic nondisjunction or post-zygotic nondisjunction can cause sex chromosome trisomy, such as XXX (triple X syndrome), XXY (Klinefelter syndrome), and XYY (XYY syndrome).
May 7, 2018: Congenital Anomalies
https://www.readbyqxmd.com/read/29715697/epidemiology-and-outcome-of-major-congenital-malformations-in-a-large-german-county
#8
Boris Wittekindt, Rolf Schloesser, Nora Doberschuetz, Emilia Salzmann-Manrique, Jasmin Grossmann, Bjoern Misselwitz, Udo Rolle
INTRODUCTION:  Congenital malformations are associated with substantial neonatal morbidity and mortality. Furthermore, only sparse data are available on the modalities of care provided to and the associated clinical outcomes in affected neonates. In this study, we focused on five malformations that require surgery during the neonatal period: duodenal stenosis and atresia (DA), gastroschisis (GA), omphalocele (OM), congenital diaphragmatic herniation (CDH), and esophageal atresia (EA)...
May 1, 2018: European Journal of Pediatric Surgery
https://www.readbyqxmd.com/read/29712489/sensitivity-of-prenatal-ultrasound-for-detection-of-trisomy-18
#9
David A Becker, Ying Tang, Adam P Jacobs, Joseph R Biggio, Rodney K Edwards, Akila Subramaniam
OBJECTIVES: To evaluate the sensitivity of prenatal ultrasound (US) for trisomy (T18) diagnosis and describe US findings in a large tertiary care institution in the USA. MATERIALS AND METHODS: This was a retrospective cohort of all T18 cases diagnosed at our institution from October 2004-October 2014 based on prenatal or postnatal genetic diagnostic testing. We included all women with a fetus affected by T18 who had a comprehensive US by a maternal-fetal medicine specialist performed at our institution...
April 30, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29707399/placental-histomorphology-in-a-case-of-double-trisomy-48-xxx-18
#10
Sujal I Shah, Lisa Dyer, Jerzy Stanek
Background: Approximately 50% of early spontaneous abortions are found to have chromosomal abnormalities. In these cases, certain histopathologic abnormalities are suggestive of, although not diagnostic for, the presence of chromosomal abnormalities. However, placental histomorphology in cases of complex chromosomal abnormalities, including double trisomies, is virtually unknown. Case Report: We present the case of a 27-year-old G3P22002 female presenting at 19 weeks and 1 day of gestation by last menstrual period for scheduled prenatal visit...
2018: Case Reports in Pathology
https://www.readbyqxmd.com/read/29701292/therapeutic-experience-with-hepatoblastoma-associated-with-trisomy-18
#11
Akiko Inoue, Ryo Suzuki, Keisuke Urabe, Yutaro Kawamura, Midori Masuda, Kanta Kishi, Kimitaka Takitani, Hiroshi Katayama, Hideki Tomiyama, Michihiro Hayashi, Shintaro Nemoto, Kazuhisa Uchiyama, Hiroshi Tamai
Trisomy 18 is often fatal, but patients with this disease can now have longer survival due to proactive treatment intervention. However, hepatoblastomas may develop in these patients. In this study, we report four cases of hepatoblastoma associated with trisomy 18. All of the patients had congenital heart disease and three had undergone intracardiac surgical repair. Tumor growth was relatively slow in all cases, and there were no problems with chemotherapy tolerability and surgical resection. Three of the patients are currently disease-free and the fourth is alive with remaining of the tumor...
April 27, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29697672/-intrahepatic-bile-duct-hyperplasia-in-a-baby-with-partial-trisomy-of-the-long-arm-of-17-chromosome
#12
K V Rastoltsev, D S Lantsov, N V Kishchenko, A L Karpova, A V Mostovoy, I A Kuzmicheva, M V Nikulina
The paper describes a clinical and anatomical case of partial trisomy of the long arm of 17 chromosome in a baby aged 1 month and 4 days with the karyotype 46,XY, dup(17)(q21q24) from a dichorionic diamniotic twin born after in vitro fertilization. Intrahepatic bile duct hyperplasia was first detected in the patient with this chromosomal abnormality. Histological and immunohistochemical examinations of the liver were conducted using antibodies to Ki-67, CK-pan, CK8, CK 18, Vim, SMA, CD31, CD34, HER-2/neu.
2018: Arkhiv Patologii
https://www.readbyqxmd.com/read/29681208/maternal-serum-laeverin-aminopeptidase-q-measured-in-the-first-trimester-of-pregnancy-does-not-predict-preeclampsia
#13
Kasper Pihl, Steen Sørensen, Mona Nystad, Ganesh Acharya, Finn S Jørgensen
OBJECTIVE: The aim of this study was to compare the laeverin level in maternal serum from first trimester (11-14 weeks) of pregnancy between normal pregnancies and pregnancies that later developed preeclampsia (PE). MATERIAL AND METHODS: This was a case-cohort study. The laeverin concentration was measured in cases with preterm PE (n = 55), term PE (n = 95), and a reference group of randomly selected women with normal pregnancy outcome (n = 200) in stored serum samples collected from the double-test as part of the combined first trimester trisomy 21 screening program...
April 22, 2018: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/29657712/recent-advances-in-understanding-the-biology-of-marginal-zone-lymphoma
#14
REVIEW
Francesco Bertoni, Davide Rossi, Emanuele Zucca
There are three different marginal zone lymphomas (MZLs): the extranodal MZL of mucosa-associated lymphoid tissue (MALT) type (MALT lymphoma), the splenic MZL, and the nodal MZL. The three MZLs share common lesions and deregulated pathways but also present specific alterations that can be used for their differential diagnosis. Although trisomies of chromosomes 3 and 18, deletions at 6q23, deregulation of nuclear factor kappa B, and chromatin remodeling genes are frequent events in all of them, the three MZLs differ in the presence of recurrent translocations, mutations affecting the NOTCH pathway, and the transcription factor Kruppel like factor 2 ( KLF2) or the receptor-type protein tyrosine phosphatase delta ( PTPRD )...
2018: F1000Research
https://www.readbyqxmd.com/read/29587261/high-frequency-of-copy-neutral-loss-of-heterozygosity-in-patients-with-myelofibrosis
#15
Milton Rego de Paula Junior, Alexandre Nonino, Juliana Minuncio Nascimento, Raphael S Bonadio, Aline Pic-Taylor, Silviene F de Oliveira, Rinaldo Wellerson Pereira, Cintia do Couto Mascarenhas, Juliana Forte Mazzeu
Myelofibrosis is the rarest and most severe type of Philadelphia-negative classical myeloproliferative neoplasms. Although mutually exclusive driver mutations in JAK2, MPL, or CALR that activate JAK-STAT pathway have been related to the pathogenesis of the disease, chromosome abnormalities have also been associated with the phenotype and prognosis of the disease. Here, we report the use of a chromosomal microarray platform consisting of both oligo and SNP probes to improve the detection of chromosome abnormalities in patients with myelofibrosis...
March 22, 2018: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/29573438/clinical-application-of-chromosomal-microarray-analysis-for-the-prenatal-diagnosis-of-chromosomal-abnormalities-and-copy-number-variations-in-fetuses-with-congenital-heart-disease
#16
Yu Xia, Yongchao Yang, Shufang Huang, Yueheng Wu, Ping Li, Jian Zhuang
OBJECTIVES: This study aimed to determine chromosomal abnormalities and copy number variations (CNVs) in fetuses with congenital heart disease (CHD) by chromosomal microarray analysis (CMA). METHODS: One hundred ten cases with CHD detected by prenatal echocardiography were enrolled in the study; 27 cases were simple CHDs and 83 were complex CHDs. CMA was performed on the Affymetrix CytoScan HD platform. All annotated CNVs were validated by qPCR. RESULTS: CMA identified 6 cases with chromosomal abnormalities, including 2 cases with trisomy 21, 2 cases with trisomy 18, 1 case with trisomy 13, and 1 unusual case of mosaic trisomy 21...
March 24, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29571945/trophoblast-cd200-expression-in-successful-human-pregancies-and-missed-abortions
#17
David A Clark, M Elizabeth McCready, Kate Harris, Leslie Malloy, Jorge L Arredondo
Presence of the CD200 immune check-point inhibitor at the feto-maternal interface is linked to prevention of spontaneous abortion in mice and humans. In human missed abortions (MA), absence of Th17-driven inflammation has been attributed to expression of villus trophoblast CD200 quantified using immunohistochemistry. While rapid aneuploidy (QF-PCR) testing linked low CD200 to pregnancy failure, data showing normal VT CD200 in first trimester normal pregnancy and in abortion of chromosomally abnormal embryos has not been demonstrated...
March 16, 2018: Journal of Reproductive Immunology
https://www.readbyqxmd.com/read/29541814/identification-of-de-novo-and-rare-inherited-copy-number-variants-in-children-with-syndromic-congenital-heart-defects
#18
Ibtessam R Hussein, Rima S Bader, Adeel G Chaudhary, Randa Bassiouni, Maha Alquaiti, Fai Ashgan, Hans-Juergen Schulten, Mohammad H Al Qahtani
Congenital heart defects (CHDs) are the most common birth defects in neonatal life. CHDs could be presented as isolated defects or associated with developmental delay (DD) and/or other congenital malformations. A small proportion of cardiac defects are caused by chromosomal abnormalities or single gene defects; however, in a large proportion of cases no genetic diagnosis could be achieved by clinical examination and conventional genetic analysis. The development of genome wide array-Comparative Genomic Hybridization technique (array-CGH) allowed for the detection of cryptic chromosomal imbalances and pathogenic copy number variants (CNVs) not detected by conventional techniques...
June 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29530134/new-screen-on-the-block-non-invasive-prenatal-testing-for-fetal-chromosomal-abnormalities
#19
Sara Filoche, Beverley Lawton, Angela Beard, Anthony Dowell, Peter Stone
Non-invasive prenatal testing (NIPT) is a new screen for fetal chromosomal abnormalities. It is a screening test based on technology that involves the analysis of feto-placental DNA that is present in maternal blood. This DNA is then analysed for abnormalities of specific chromosomes (eg 13, 18, 21, X, Y). NIPT has a much higher screening capability for chromosomal abnormalities than current combined first trimester screening, with ~99% sensitivity for trisomy 21 (Down syndrome) and at least a 10-fold higher positive predictive value...
December 2017: Journal of Primary Health Care
https://www.readbyqxmd.com/read/29517144/utility-of-fetal-anteroposterior-to-transverse-cerebellar-diameter-ratio-to-exclude-cerebellar-hypoplasia-in-trisomy-18
#20
Mayumi Takano, Masahiko Nakata, Ayako Oji, Sumito Nagasaki, Nahomi Umemura, Toshimitsu Maemura, Mineto Morita
AIM: This study was aimed to determine reference ranges for fetal cerebellar hemisphere biometry, including the transverse cerebellar diameter (TCD), anteroposterior cerebellar diameter (APCD) and APCD/TCD ratio in normal fetuses. In addition, we investigated which parameter would be useful for cerebellar hypoplasia in trisomy 18. METHODS: This retrospective study included 340 normal singleton pregnancies and 15 cases of trisomy 18, in all of which fetal cerebellar biometry was performed between 14 and 40 weeks of gestational age (GA)...
March 8, 2018: Journal of Obstetrics and Gynaecology Research
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