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Faten Moassass, Abdulsamad Wafa, Thomas Liehr, Ayman Al-Ablog, Walid Al Achkar
Background: Children with constitutional trisomy 21, i.e. Down syndrome (DS, OMIM #190685) have a 10 to 20-fold increased risk for a hematopoietic malignancy. They may suffer from acute lymphoblastic leukemia or acute myeloid leukemia (AML). AML referred to as myeloid leukemia of Down syndrome (ML-DS) is observed especially after birth at an early gestational age and characterized by enhanced white blood cell count, failure of spontaneous remission, liver fibrosis or liver dysfunction, and is significantly associated with early death...
2018: Molecular Cytogenetics
Hai-Shen Tang, De-Gang Wang, Lv-Yin Huang, Dong-Zhi Li
No abstract text is available yet for this article.
March 21, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Melih Velipasaoglu, Metin Sentürk, Reyhan Ayaz, Barbaros Atesli, H Mete Tanir
This study aimed to elucidate the diagnostic process, the associated anomalies and the perinatal outcomes of right aortic arch (RAA) in a group of low-risk patients. The obstetric imaging database and digital patient files were reviewed between January 2015 and June 2016. There were 12 RAA cases detected prenatally. Seven foetuses had an aberrant left subclavian artery and one foetus had mirror image branching. The prevalence of RAA was 1.8 in 1000. Invasive prenatal diagnosis was offered to patients and seven tests were performed...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Chitra Andrew, Teena Koshy, Shivani Gopal, Solomon Franklin Durairaj Paul
This is a retrospective analysis of the patient demographics and cytogenetic results of patients who underwent prenatal invasive testing for genetic analysis at the Foetal Medicine Division of the Department of Obstetrics and Gynecology, Sri Ramachandra Medical College and Research Institute. The main objective of this study was to characterise the changing trends in indications of pregnant women for foetal karyotyping in a 7-year period. A total of 257 procedures were performed in this period, and there was a significant change in the trend of indications for invasive prenatal diagnosis from an advanced maternal age in 2009 to a positive screen test by 2014...
March 19, 2018: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
Yan Du, Lanting Chen, Jing Lin, Jun Zhu, Na Zhang, Xuemin Qiu, Dajin Li, Ling Wang
Recurrent spontaneous abortion (RSA) is a multifactorial disease of which the exact causes are still unknown. In the current study, we aimed to analyze the distribution of abnormal embryonic karyotypes in RSA. 781 RSA patients of 17 hospitals in Shanghai from January 2014 to September 2016 were enrolled. Fetal villus tissues were collected during uterine curettage and then cultured in situ for karyotyping. All of the 781 cases were successfully cultured. There were 393 cases of abnormal karyotypes, accounting for 50...
2018: Bioscience Trends
Naoki Masaki, Yuriko Saiki, Masato Endo, Kay Maeda, Osamu Adachi, Masatoshi Akiyama, Shunsuke Kawamoto, Yoshikatsu Saiki
BACKGROUND: Pulmonary hypertension (PH) is more progressive in trisomy 21 patients. However, pulmonary arteriopathic lesions in these patients have not been fully characterized histopathologically.Methods and Results:A retrospective review of a lung biopsy registry identified 282 patients: 188 patients with trisomy 21 (Group D) and 94 without (Group N). The mean age at lung biopsy was 3 and 7 months (P<0.0001). Pulmonary arterial pressure (PAP) and pulmonary vascular resistance were similar between the 2 groups...
March 16, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
Erol Arslan, Selim Büyükkurt, Mete Sucu, Mehmet Özsürmeli, Selahattin Mısırlıoğlu, S Cansun Demir, I Cüneyt Evrüke
OBJECTIVE: Fetal structural malformations affect approximately 2-3% of all pregnancies. Only focusing on trisomy screening in first trimester and deferring the anatomical screening to second trimester may result with late detection of major anomalies that can be diagnosed earlier with a careful examination. MATERIAL AND METHODS: This was a descriptive study retrospective data that was obtained from all terminated single pregnancies due to ultrasonographic findings of major anomalies from 2011 to 2016 in our department...
March 16, 2018: Journal of the Turkish German Gynecological Association
Mio Noma, Muneaki Matsubara, Chiho Tokunaga, Tomomi Nakajima, Bryan James Mathis, Hiroaki Sakamoto, Yuji Hiramatsu
BACKGROUND: Although pulmonary artery banding (PAB) is a common palliative procedure for pediatric heart malformation, there are concerns of pressure overload and concomitant immune reactions in the right ventricle causing postsurgical complications such as pericardial effusion. At this time, no clear guidelines as to potential risk factors or procedural contraindications have been widely disseminated. Therefore, a study was undertaken to examine wide-ranging factors to find potential biomarkers for postsurgical pericardial effusion formation risk...
March 2018: World Journal for Pediatric & Congenital Heart Surgery
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...
March 14, 2018: Pediatric Cardiology
Fredrik Dahl, Olle Ericsson, Olof Karlberg, Filip Karlsson, Mathias Howell, Fredrik Persson, Fredrik Roos, Johan Stenberg, Tarja Ahola, Ida Alftrén, Björn Andersson, Emelie Barkenäs, Birgit Brandner, Jenny Dahlberg, Sara Elfman, Magnus Eriksson, Per-Ola Forsgren, Niels Francois, Anna Gousseva, Faizan Hakamali, Åsa Janfalk-Carlsson, Henrik Johansson, Johanna Lundgren, Atefeh Mohsenchian, Linus Olausson, Simon Olofsson, Atif Qureshi, Björn Skarpås, Anna Sävneby, Eva Åström, Ove Öhman, Magnus Westgren, Helena Kopp-Kallner, Aino Fianu-Jonasson, Argyro Syngelaki, Kypros Nicolaides
Cell-free DNA analysis is becoming adopted for first line aneuploidy screening, however for most healthcare programs, cost and workflow complexity is limiting adoption of the test. We report a novel cost effective method, the Vanadis NIPT assay, designed for high precision digitally-enabled measurement of chromosomal aneuploidies in maternal plasma. Reducing NIPT assay complexity is achieved by using novel molecular probe technology that specifically label target chromosomes combined with a new readout format using a nanofilter to enrich single molecules for imaging and counting without DNA amplification, microarrays or sequencing...
March 14, 2018: Scientific Reports
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
Hong Qi, Zhao-Ling Xuan, Yang Du, Li-Rong Cai, Han Zhang, Xiao-Hui Wen, Xiang-Dong Kong, Kai Yang, Yang Mi, Xin-Xin Fu, Shan-Bo Cao, Juan Wang, Chong-Jian Chen, Jun-Bin Liang
OBJECTIVE: Chromosome aberrations are generally considered as one of the most substantial causative factors contributing to spontaneous miscarriages. Cytogenetic analyses like G-banded karyotype and chromosomal microarray analyses are often performed to further investigate the chromosome status of a miscarried fetus. STUDY DESIGN: Here, we describe a novel method, AnnoCNV, to detect DNA copy number variations (CNVs) using low coverage whole genome sequencing (WGS)...
March 8, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Khadega A Abuelgasim, Hinna Rehan, Maha Alsubaie, Nasser Al Atwi, Mohammed Al Balwi, Saeed Alshieban, Areej Almughairi
BACKGROUND: Chronic lymphocytic leukemia and chronic myeloid leukemia are the most common types of adult leukemia. However, it is rare for the same patient to suffer from both. Richter's transformation to diffuse large B-cell lymphoma is frequently observed in chronic lymphocytic leukemia. Purine analog therapy and the presence of trisomy 12, and CCND1 gene rearrangement have been linked to increased risk of Richter's transformation. The coexistence of chronic myeloid leukemia and diffuse large B-cell lymphoma in the same patient is extremely rare, with only nine reported cases...
March 11, 2018: Journal of Medical Case Reports
Bradley Pawlikowski, Nicole Dalla Betta, Tiffany Elston, Darian A Williams, Bradley B Olwin
Down syndrome, caused by trisomy 21, is characterized by a variety of medical conditions including intellectual impairments, cardiovascular defects, blood cell disorders and pre-mature aging phenotypes. Several somatic stem cell populations are dysfunctional in Down syndrome and their deficiencies may contribute to multiple Down syndrome phenotypes. Down syndrome is associated with muscle weakness but skeletal muscle stem cells or satellite cells in Down syndrome have not been investigated. We find that a failure in satellite cell expansion impairs muscle regeneration in the Ts65Dn mouse model of Down syndrome...
March 9, 2018: Scientific Reports
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
Chun Feng, Zhaobo He, Bo Cai, Jianhong Peng, Jieping Song, Xuechen Yu, Yue Sun, Jing Yuan, Xingzhong Zhao, Yuanzhen Zhang
Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral blood may serve as a prospective testing method competing with the cell-free DNA, in non-invasive prenatal testing (NIPT). Methods: Herein, we introduce a facile and effective lab-on-a-chip method of fNRBCs detection using a capture-releasing material that is composed of biotin-doped polypyrrole nanoparticles. To enhance local topographic interactions between the nano-components and fNRBC, a specific antibody, CD147, coated on the nanostructured substrate led to the isolation of fNRBCs from maternal peripheral blood...
2018: Theranostics
Gabriele Cipriani, Sabrina Danti, Cecilia Carlesi, Mario Di Fiorino
BACKGROUND: People with Down syndrome (DS) enjoy a longer life expectancy now than they ever have before and are therefore at greater risk of developing conditions associated with aging, including dementia. OBJECTIVES: To explore the phenomenon of dementia in DS. METHODS: Medline and Google Scholar searches were conducted for relevant articles, chapters, and books published until 2017. Search terms included Alzheimer's disease, cognitive impairment, dementia, DS, and trisomy 21...
January 1, 2018: American Journal of Alzheimer's Disease and Other Dementias
Danielle P Thurtle, Michael B Huck, Kristen A Zeller, Tamison Jewett
BACKGROUND: Trisomy 13 is one of the most common autosomal trisomies, and although increasing in number, patients surviving past the neonatal period remain rare. The natural history and expected complications in these patients as they age remains unknown. Despite the rarity of this condition, unusual malignancies have been reported in the medical literature for decades. It is clear that providers should suspect unusual malignancies in these patients, particularly as they age. CASE PRESENTATION: We report a 20-year-old Caucasian woman with Trisomy 13 who presented with colonic volvulus, found to have colonic polyposis and adenocarcinoma of the colon...
March 4, 2018: Journal of Medical Case Reports
Jean-Marc Costa, Alexandra Letourneau, Romain Favre, Laurent Bidat, Joelle Belaisch-Allart, Jean-Marie Jouannic, Edwin Quarello, Marie-Victoire Senat, Bernard Broussin, Vassilis Tsatsaris, Adèle Demain, Pascale Kleinfinger, Laurence Lohmann, Hélène Agostini, Jean Bouyer, Alexandra Benachi
PurposeCell-free DNA (cfDNA) as a primary screening test has been available for years but few studies have addressed this option in a prospective manner. The question is of interest after reports that maternal serum screening (MSS) is less accurate for pregnancies resulting from assisted reproduction technologies (ART) than for spontaneous pregnancies (SP).MethodsA prospective interventional study was designed to address the performances of cfDNA compared with MSS in pregnancies with or without ART. Each patient was offered both MSS and cfDNA testing...
March 1, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Svetlana O Sharapova, Alena V Valochnik, Irina E Guryanova, Inga S Sakovich, Olga V Aleinikova
Ataxia-telangiectasia (AT) is a rare neurodegenerative disease characterized by an early onset ataxia, oculocutaneous telangiectasia, immunodeficiency, recurrent infections, radio-sensitivity, and a predisposition to malignancy. We present the case of a child with coexistent AT and trisomy X (47,XXX). We used fluorescent in situ hybridization (FISH) to confirm that this person had 47,XXX karyotype in blood cells, bone marrow, fibroblasts, and buccal smear. Standard cytogenetic studies (not banded) were conducted on blood cells...
February 28, 2018: Immunogenetics
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