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https://www.readbyqxmd.com/read/29330546/older-mothers-and-increased-impact-of-prenatal-screening-stable-livebirth-prevalence-of-trisomy-21-in-the-netherlands-for-the-period-2000-2013
#1
Maurike D de Groot-van der Mooren, Saskia Tamminga, Dick Oepkes, Michel E Weijerman, Martina C Cornel
In the Netherlands, there is no registry system regarding the livebirth prevalence of trisomy 21 (T21). In 2007, a national screening programme was introduced for all pregnant women, which may have changed the livebirth prevalence of T21. The aim of this study is to analyse trends in factors that influence livebirth prevalence of T21 and to estimate the livebirth prevalence of T21 for the period of 2000-2013. National data sets were used on the following: (1) livebirths according to maternal age and (2) prenatal testing and termination of pregnancy (ToP) following diagnosis of T21...
January 12, 2018: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/29325624/sex-chromosome-aneuploidies
#2
David Skuse, Frida Printzlau, Jeanne Wolstencroft
Sex chromosome aneuploidies comprise a relatively common group of chromosome disorders characterized by the loss or gain of one or more sex chromosomes. We discuss five of the better-known sex aneuploidies: Turner syndrome (XO), Klinefelter syndrome (XXY), trisomy X (XXX), XYY, and XXYY. Despite their prevalence in the general population, these disorders are underdiagnosed and the specific genetic mechanisms underlying their phenotypes are poorly understood. Although there is considerable variation between them in terms of associated functional impairment, each disorder has a characteristic physical, cognitive, and neurologic profile...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324645/esophageal-web-in-a-down-syndrome-infant-a-rare-case-report
#3
Nirmala Thomas, Roy J Mukkada, Muhammed Jasim Abdul Jalal, Nisha Narayanankutty
We describe the rare case of an infant with trisomy 21 who presented with recurrent vomiting and aspiration pneumonia and a failure to thrive. Infants with Down's syndrome have been known to have various problems in the gastrointestinal tract. In the esophagus, what have been described are dysmotility, gastroesophageal reflux and strictures. This infant on evaluation was found to have an esophageal web and simple endoscopic dilatation relieved the infant of her symptoms. No similar case has been reported in literature...
January 11, 2018: Children
https://www.readbyqxmd.com/read/29313983/erratum-to-effect-of-extended-oral-contraception-use-on-the-prevalence-of-fetal-trisomy-21-in-women-aged-at-least-35-years-int-j-gynecol-obstet-138-2017-261-266
#4
Dániel Horányi, Lilla Éva Babay, János Rigó, Balázs Győrffy, Gyula R Nagy
No abstract text is available yet for this article.
February 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29311684/a-severely-short-statured-girl-with-47-xx-%C3%A2-%C3%A2-14-46-xx-upd-14-mat-mosaicism
#5
Kikumi Ushijima, Syuichi Yatsuga, Takako Matsumoto, Akie Nakamura, Maki Fukami, Masayo Kagami
The predominant symptoms of trisomy 14 mosaicism are prenatal and postnatal growth failure, ear abnormalities, congenital heart disease, developmental delay, and genitourinary abnormalities. Maternal uniparental disomy of chromosome 14 (upd(14)mat) presents discernible clinical features such as prenatal and postnatal growth failure, hypotonia, precocious puberty, and obesity. Given the small number of previously reported patients with a combination of trisomy 14 mosaicism and upd(14)mat, the detailed clinical features of these patients remain to be elucidated...
January 9, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29310616/partial-trisomy-16q21%C3%A2-qter-due-to-an-unbalanced-segregation-of-a-maternally-inherited-balanced-translocation-46-xx-t-15-16-p13-q21-a-case-report-and-review-of-literature
#6
R Mishra, C S Paththinige, N D Sirisena, S Nanayakkara, U G I U Kariyawasam, V H W Dissanayake
BACKGROUND: Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic features, and systemic malformations with limited post-natal survival. Most of the cases of partial trisomy 16q described in the scientific literature have reported only one, or less frequently two cardiac defects in the affected babies. Herein, we report a case of partial trisomy 16q21➔qter with multiple and complex cardiac defects that have not previously been reported in association with this condition...
January 8, 2018: BMC Pediatrics
https://www.readbyqxmd.com/read/29303233/high-percentages-of-embryos-with-21-18-or-13-trisomy-are-related-to-advanced-paternal-age-in-donor-egg-cycles
#7
Javier García-Ferreyra, Roly Hilario, Julio Dueñas
OBJECTIVE: Advanced paternal age is related to poor sperm quality; however, little is known on its effect on aneuploidy embryo rates and, more importantly, on chromosomal abnormalities like trisomy 21, 18 and 13. The objective of this study was to evaluate the effect of advanced paternal age on the trisomy rates of the chromosomes 21, 18 or 13 in embryos obtained from donated oocytes. METHODS: A total of 378 embryos, obtained from 52 IVF/ICSI cycles with donated oocytes in conjunction with PGD, were allocated according to paternal age in three groups: Group A: ≤39 years (n=115 embryos), Group B: 40-49 years (n=157 embryos) and Group C: ≥50 year (n=106 embryos)...
January 5, 2018: JBRA Assisted Reproduction
https://www.readbyqxmd.com/read/29300981/chromosome-screening-using-noninvasive-prenatal-testing-beyond-trisomy-21-what-to-screen-for-and-why-it-matters
#8
Kristien Hens
With the new and highly accurate noninvasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation and that there are different points to consider before any chromosomal or subchromosomal condition is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman's reproductive autonomy...
December 29, 2017: Journal of Medicine and Philosophy
https://www.readbyqxmd.com/read/29296929/red-blood-cell-metabolism-in-down-syndrome-hints-on-metabolic-derangements-in-aging
#9
Rachel Culp-Hill, Connie Zheng, Julie A Reisz, Keith Smith, Angela Rachubinski, Travis Nemkov, Eric Butcher, Ross Granrath, Kirk C Hansen, Joaquín M Espinosa, Angelo D'Alessandro
Red blood cells (RBCs) are the most abundant cell in the human body. During their ∼120-day life span in the circulatory system, RBCs release oxygen to all human tissues while being exposed to tissue metabolic activity. Owing to the relative simplicity of their intrinsic metabolism and the abundance of metabolite transporters in RBC membranes, the metabolism of mature erythrocytes indirectly mirrors systemic metabolic homeostasis and its alterations as a function of physiological factors, such as aging. Trisomy 21 (T21), the etiological factor of Down syndrome (DS), has been shown to cause chronic autoinflammation, promoting alterations in RBC life span, size (macrocytosis), and redox homeostasis...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29287853/musculo-mucous-web-velum-and-velopharyngeal-dysfunction-associated-with-8q22-1-22-2-microduplication
#10
Mathieu Trudel, Rachel Laframboise, Jacques E Leclerc
This report presents a rare case of isolated non-cleft velopharyngeal dysfunction (VPD). An eight-year-old child presented 1. a phenotypically unique band-gap pattern of the velar musculature with anteroposterior insertion; 2. a mosaic partial trisomy on chromosome 19 as well as microduplications on chromosomes 8 and 22. Following cytogenetic analysis, microduplication on chromosome 8 was found in another member of her family. A family history of VPI with hypernasality and nasal regurgitation was reported over three different generations on the patient's maternal side...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29285825/targeted-copy-number-screening-highlights-an-intragenic-deletion-of-wdr63-as-the-likely-cause-of-human-occipital-encephalocele-and-abnormal-cns-development-in-zebrafish
#11
Wolfgang Hofmeister, Maria Pettersson, Deniz Kurtoglu, Miriam Armenio, Jesper Eisfeldt, Nikos Papadogiannakis, Peter Gustavsson, Anna Lindstrand
Congenital malformations affecting the neural tube can present as isolated malformations or occur in association with other developmental abnormalities and syndromes. Using high resolution copy number screening in 66 fetuses with neural tube defects we identified 6 fetuses with likely pathogenic mutations, three aneuploidies (one trisomy 13 and two trisomy 18) and three deletions previously reported in NTDs (one 22q11.2 deletion and two 1p36 deletions) corresponding to 9% of the cohort. In addition, we identified five rare deletions and two duplications of uncertain significance including a rare intragenic heterozygous in-frame WDR63 deletion in a fetus with occipital encephalocele...
December 28, 2017: Human Mutation
https://www.readbyqxmd.com/read/29278889/erythromyeloid-derived-trem2-a-major-determinant-of-alzheimer-s-disease-pathology-in-down-syndrome
#12
Ruma Raha-Chowdhury, James W Henderson, Animesh Alexander Raha, Simon R W Stott, Romina Vuono, Simona Foscarin, Liam Wilson, Tiina Annus, Robert Fincham, Kieren Allinson, Vinod Devalia, Robert P Friedland, Anthony Holland, Shahid H Zaman
BACKGROUND: Down syndrome (DS; trisomy 21) individuals have a spectrum of hematopoietic and neuronal dysfunctions, and by the time they reach the age of 40 years, almost all develop Alzheimer's disease (AD) neuropathology which includes senile plaques and neurofibrillary tangles. Inflammation and innate immunity are key players in AD and DS. Triggering receptor expressed in myeloid cells-2 (TREM2) variants have been identified as risk factors for AD and other neurodegenerative diseases...
December 16, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29278735/expanding-the-fanco-rad51c-associated-phenotype-cleft-lip-and-palate-and-lobar-holoprosencephaly-two-rare-findings-in-fanconi-anemia
#13
Adeline Jacquinet, Lindsay Brown, Jessica Sawkins, Pengfei Liu, Denise Pugash, Margot I Van Allen, Millan S Patel
Fanconi anemia is a rare chromosome instability disorder with a highly variable phenotype. In the antenatal and neonatal periods, the diagnosis is usually suggested by the presence of typical congenital abnormalities such as intrauterine growth retardation, microcephaly and radial ray defects. We report a newborn female with a prenatal diagnosis of Fanconi anemia, complementation group O (FANCO). Antenatal ultrasounds identified symmetrical intrauterine growth retardation, complex heart defect as well as brain anomalies, overlapping fingers and cleft lip and palate...
December 23, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29274935/does-low-papp-a-predict-adverse-placenta-mediated-outcomes-in-a-low-risk-nulliparous-population-the-great-obstetrical-syndromes-gos-study
#14
Amélie Boutin, Cédric Gasse, Suzanne Demers, Geneviève Blanchet, Yves Giguère, Emmanuel Bujold
OBJECTIVE: First-trimester low concentration of pregnancy-associated plasma protein A (PAPP-A) has been associated with adverse perinatal outcomes in high-risk populations. This study aimed to estimate the ability of PAPP-A to identify adverse outcomes in a low-risk population. METHODS: The study investigators recruited nulliparous women with singleton pregnancy at their 11-13-week ultrasound scan. Serum samples were collected, and maternal PAPP-A concentration was measured using the B ⋅ R ⋅ A ⋅ H ⋅ M ⋅ S PAPP-A KRYPTOR (ThermoFisher Scientific, Hennigsdorf, Germany) automated assay...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29250894/vacterl-phenotype-with-mosaic-trisomy-5-and-uniparental-disomy-5
#15
Samuel Hwang, Mary Katharine Rudd, Lisa Finch, Suzanne E Peterson, Raj P Kapur
No abstract text is available yet for this article.
December 18, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29249362/-miliary-tuberculosis
#16
N Zaghba, K El Hachimi, H Benjelloun, N Yassine
INTRODUCTION: Tuberculosis miliary is a severe and rare form of tuberculosis. It is often due to a haematogenous spread of the bacillus of Koch and represents less than 2 % of tuberculosis. PATIENTS AND METHODS: We conducted a retrospective study of 81 cases of tuberculous miliary collected at the Department of respiratory diseases of the Ibn Rochd university hospital in Casablanca between September 2003 and November 2016. RESULTS: A female predominance was noted with 58 % of the cases...
December 14, 2017: Revue de Pneumologie Clinique
https://www.readbyqxmd.com/read/29249015/cost-effectiveness-of-cell-free-dna-in-maternal-blood-testing-for-prenatal-detection-of-trisomy-21-18-and-13-a-systematic-review
#17
Lidia García-Pérez, Renata Linertová, Margarita Álvarez-de-la-Rosa, Juan Carlos Bayón, Iñaki Imaz-Iglesia, Jorge Ferrer-Rodríguez, Pedro Serrano-Aguilar
The aim of this paper was to conduct a systematic review of the cost-effectiveness of the analysis of cell-free DNA in maternal blood, often called the non-invasive prenatal test (NIPT), in the prenatal screening of trisomy in chromosomes 21, 18 and 13. MEDLINE, MEDLINE in process, EMBASE, and Cochrane Library were searched in April 2017. We selected: (1) economic evaluations that estimated the costs and detected cases of trisomy 21, 18 or 13; (2) comparisons of prenatal screening with NIPT (universal or contingent strategies) and the usual screening without NIPT, (3) in pregnant women with any risk of foetal anomalies...
December 16, 2017: European Journal of Health Economics: HEPAC: Health Economics in Prevention and Care
https://www.readbyqxmd.com/read/29247566/application-of-the-bacs-on-beadstm-assay-for-rapid-prenatal-detection-of-aneuploidies-and-microdeletions
#18
Hailong Huang, Min Zhang, Yan Wang, Na Lin, Deqin He, Meihuan Chen, Lingji Chen, Yuan Lin, Liangpu Xu
Prenatal diagnosis focuses on the detection of anatomic and physiologic problems with a foetus before birth. Karyotyping is currently considered the gold standard for prenatal diagnosis of chromosomal abnormalities, but this method can be time consuming. This study evaluated the diagnostic accuracy of the BACs-on-BeadsTM (BoBsTM ) assay for the rapid diagnosis of aneuploidies and microdeletions. A total of 625 samples from pregnant women in Fujian province, in southeastern China - including 3 chorionic villus biopsies, 523 amniotic fluid samples, and 99 umbilical-cord centesis samples - were assessed for chromosomal abnormalities by karyotyping and by the BoBsTM assay...
December 16, 2017: Molecular Reproduction and Development
https://www.readbyqxmd.com/read/29246465/resource-use-and-morbidities-in-pediatric-cardiac-surgery-patients-with-genetic-conditions
#19
Jamie Furlong-Dillard, David Bailly, Venugopal Amula, Jacob Wilkes, Susan Bratton
OBJECTIVE: To evaluate and describe resource use and perioperative morbidities among those patients with genetic conditions undergoing cardiac surgery. STUDY DESIGN: Using the Pediatric Health Information System database, we identified patients ≤18 years old with cardiac surgery classified by Risk Adjustment for Congenital Heart Surgery (RACHS) during 2003-2014. A total of 95 253 patients met study criteria and included no genetic conditions (84.6%), trisomy 21 (9...
December 12, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/29245059/proteomic-analysis-of-six-and-twelve-month-hippocampus-and-cerebellum-in-a-murine-down-syndrome-model
#20
Guido N Vacano, David S Gibson, Abdullah Arif Turjoman, Jeremy W Gawryluk, Jonathan D Geiger, Mark Duncan, David Patterson
This study was designed to investigate the brain proteome of the Ts65Dn mouse model of Down syndrome. We profiled the cerebellum and hippocampus proteomes of 6- and 12-month-old trisomic and disomic mice by difference gel electrophoresis. We quantified levels of 2082 protein spots and identified 272 (170 unique UniProt accessions) by mass spectrometry. Four identified proteins are encoded by genes trisomic in the Ts65Dn mouse. Three of these (CRYZL11, EZR, and SOD1) were elevated with p-value <0.05, and 2 proteins encoded by disomic genes (MAPRE3 and PHB) were reduced...
November 26, 2017: Neurobiology of Aging
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