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Trisomy 21

Wawrzyniec Rieder, Scott White, George McGillivray, Lisa Hui
Cell-free DNA screening has quickly become established in Australia as an accurate - albeit costly - prenatal screening test for trisomy 21, 18 and 13. It is also commonly used for the detection of sex chromosome abnormalities. The increasing number of prenatal screening pathways available to women has increased the complexity of pretest counselling. Concurrent advances in diagnostic testing with the widespread use of chromosomal microarrays create further challenges for the continuing education of clinicians and health consumers...
June 13, 2018: Australian & New Zealand Journal of Obstetrics & Gynaecology
Karin Huijsdens-van Amsterdam, Lieve Page-Christiaens, Nicola Flowers, Michael D Bonifacio, Katie M Battese Ellis, Ida Vogel, Else Marie Vestergaard, Javier Miguelez, Mario Henrique Burlacchini de Carvalho, Erik A Sistermans, Mark D Pertile
False-negative cell-free DNA (cfDNA) screening results involving Down syndrome are rare, but have high clinical impact on patients and their healthcare providers. Understanding the biology behind these results may allow for improved diagnostic follow-up and counseling. In 5 different centers offering cfDNA prenatal screening, 9 false-negative results were documented in 646 confirmed cases of trisomy 21; a false-negative rate of 1.4% (95% CI, 0.7-2.6). False-negative results included 4 cases of classical trisomy 21 and 5 cases with a de novo 21q;21q rearrangement...
June 13, 2018: European Journal of Human Genetics: EJHG
Elisa Bevilacqua, Jacques C Jani, Alexandra Letourneau, Silvia F Duiella, Pascale Kleinfinger, Laurence Lohmann, Serena Resta, Teresa Cos Sanchez, Jean-François Fils, Marilyn Mirra, Alexandra Benachi, Jean-Marc Costa
OBJECTIVES: To evaluate the failure rate and performance of cell-free DNA (cfDNA) testing, mainly in terms of detection rates for trisomy 21, performed by 2 laboratories using different analytical methods. METHODS: cfDNA testing was performed on 2,870 pregnancies with the HarmonyTM Prenatal Test using the targeted digital analysis of selected regions (DANSR) method, and on 2,635 pregnancies with the "Cerba test" using the genome-wide massively parallel sequencing (GW-MPS) method, with available outcomes...
June 13, 2018: Fetal Diagnosis and Therapy
Wencheng Dai, Yulin Jiang, Mijiti Gulinazi, Xuan Liu, Zhen Yu, Ning Liu, Lixia Wang, Guangjuan Ma
OBJECTIVE: To assess the application value in prenatal diagnosis using karyotype analysis combined with BACs-on-Beads (BoBs) assay. METHODS: Nine hundred sixty five pregnant women were subjected to amniocentesis, chromosomal karyotype analysis and detection of BoBs were employed simultaneously for abnormal number of chromosomes and 9 chromosome microdeletion syndrome in prenatal diagnosis. RESULTS: Fifty cases common chromosome aneupoidies were successfully detected by both karyotype analysis and BoBs which included 31 cases of trisomy 21,10 cases of trisomy 18 and 9 cases with sex chromosome abnormality...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Bin Zhang, Cong Shen, Huiyan Wang, Zhengmao Cai, Beiyi Lu, Xiaoqing Zhang, Bin Yu, Ting Wang
OBJECTIVE: To explore the cause of failure of non-invasive prenatal testing (NIPT) using cell-free fetal DNA from peripheral maternal blood. METHODS: A total of 31 832 cases of NIPT were retrospectively analyzed. The clinical data of pregnant women were analyzed and the outcome of pregnancy was followed up. RESULTS: Among the 31 832 cases, 200 patients have failed for the first NIPT test. Second test has succeeded in 171 (85.9%) of 199 cases, while 28 cases (14...
June 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
Shane C Quinonez, Abate Yeshidinber, Michael A Lourie, Delayehu Bekele, Yemisrach Mekonnen, Balkachew Nigatu, Gesit Metaferia, Solomie Jebessa
PURPOSE: Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia. METHODS: A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period...
June 11, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
Anna Keravnou, Marios Ioannides, Charalambos Loizides, Kyriakos Tsangaras, Achilleas Achilleos, Petros Mina, Elena Kypri, Michael D Hadjidaniel, Maria Neofytou, Skevi Kyriacou, Carolina Sismani, George Koumbaris, Philippos C Patsalis
DNA methylation is the most characterized epigenetic process exhibiting stochastic variation across different tissues and individuals. In non-invasive prenatal testing (NIPT) fetal specific methylated regions can potentially be used as biomarkers for the accurate detection of fetal aneuploidies. The aim of this study was the investigation of inter-individual methylation variability of previously reported fetal-specific markers and their implementation towards the development of a novel NIPT assay for the detection of trisomies 13, 18, and 21...
2018: PloS One
Emily Lostchuck, Alice Poulton, Jane Halliday, Lisa Hui
OBJECTIVES: To assess trends in ultrasound-indicated prenatal diagnostic testing over the past two decades, in the context of rapidly-changing practices in aneuploidy screening and chromosome analysis. METHODS: Retrospective analysis of ultrasound-indicated amniocenteses and chorionic villus sampling from the Australian state of Victoria from 1994-2016. Ultrasound-indicated prenatal diagnostic testing included those performed for: fetal structural abnormality, fetal death, fetal growth restriction, abnormal amniotic fluid volume, genetic "soft marker", or unspecified ultrasound abnormality...
June 6, 2018: Ultrasound in Obstetrics & Gynecology
Jing Wang, Lin Chen, Cong Zhou, Li Wang, Hanbin Xie, Yuanyuan Xiao, Hongmei Zhu, Ting Hu, Zhu Zhang, Qian Zhu, Zhiying Liu, Shanlin Liu, He Wang, Mengnan Xu, Zhilin Ren, Fuli Yu, David S Cram, Hongqian Liu
BACKGROUND: Next generation sequencing (NGS) is emerging as a viable alternative to chromosome microarray analysis for the diagnosis of chromosome disease syndromes. One NGS methodology, copy number variation sequencing (CNV-Seq), has been shown to deliver high reliability, accuracy and reproducibility for detection of fetal CNVs in prenatal samples. However, its clinical utility as a first tier diagnostic method has yet to be demonstrated in a large cohort of pregnant women referred for fetal chromosome testing...
May 28, 2018: American Journal of Obstetrics and Gynecology
Takahiro Yamada, Akihiko Sekizawa, Yosuke Fujii, Tatsuko Hirose, Osamu Samura, Nobuhiro Suzumori, Kiyonori Miura, Hideaki Sawai, Fumiki Hirahara, Haruhiko Sago
The data collected by nation-wide study of noninvasive prenatal genetic testing (NIPT) for trisomy 21 from 21,610 pregnant women with advanced maternal age in Japan were reported. Among 188 NIPT-positive cases, 180 cases were true positive. The incidence of aneuploidy according to maternal age was estimated using a state-space model. Although, the frequency of trisomy increased exponentially with maternal age as previously reported, the maternal age-specific risk for trisomy 21 that was based on the clinical performance of NIPT was lower than the predicted risk in previous Western cohorts based on the data from invasive prenatal testing (Bayesian two-sided tail-area probability P = 0...
May 30, 2018: Journal of Human Genetics
Dena B Dubal
Tau, a microtubule-associated protein, is linked to many neurodegenerative diseases, including Alzheimer's disease (AD). A recent study uncovered a new pathway for its secretion, leading to its transcellular uptake, while another study found that tau secreted from human induced pluripotent stem cells (iPSCs) modeling trisomy 21-related AD caused synaptic impairment in rats. These findings could inform tau-directed therapies.
May 25, 2018: Trends in Molecular Medicine
Tanja S Hartwig, Louise Ambye, Lene Werge, Martin Kenneth Weiergang, Pernille Nørgaard, Steen Sørensen, Finn Stener Jørgensen
OBJECTIVES: We have established an open source platform for non-invasive prenatal testing (NIPT) based on massively parallel whole-genome sequencing in a public setting. The objective of this study was to investigate factors of importance for correct interpretation of NIPT results to ensure a high sensitivity and specificity. STUDY DESIGN: This investigation is a retrospective case-control study performed in a public NIPT center. The study included 108 aneuploid cases and 165 euploid controls...
May 1, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Shiv Sha, Hany Abdelsabour, Suganth J Vijimohan, Tim Board, Sattar Alshryda
INTRODUCTION: Trisomy 21 is the most common chromosomal disorders in humans; it is caused by an extra copy of chromosome number 21. This extra chromosomal material causes widespread abnormalities involving nearly every part of human body. Hip disorders are the second most serious musculoskeletal disorder in patients with T21 with a reported incidence between 2 and 28%. The outcomes of these hip disorders in patients with T21 are much less favorable than similar hip diagnoses in normal patients and a substantive number of these patients develop severe osteoarthritis that require total hip arthroplasty (THA)...
May 23, 2018: Surgeon: Journal of the Royal Colleges of Surgeons of Edinburgh and Ireland
Usman Bala, Melody Pui-Yee Leong, Chai Ling Lim, Hayati Kadir Shahar, Fauziah Othman, Mei-I Lai, Zhe-Kang Law, Khairunnisa Ramli, Ohnmar Htwe, King-Hwa Ling, Pike-See Cheah
BACKGROUND: Down syndrome (DS) is a genetic disorder caused by presence of extra copy of human chromosome 21. It is characterised by several clinical phenotypes. Motor dysfunction due to hypotonia is commonly seen in individuals with DS and its etiology is yet unknown. Ts1Cje, which has a partial trisomy (Mmu16) homologous to Hsa21, is well reported to exhibit various typical neuropathological features seen in individuals with DS. This study investigated the role of skeletal muscles and peripheral nerve defects in contributing to muscle weakness in Ts1Cje mice...
2018: PloS One
Sarah McAndrew, Krishna Acharya, T Hang Nghiem-Rao, Steven Leuthner, Reese Clark, Joanne Lagatta
OBJECTIVE: To describe how trisomy 21 affects neonatal intensive care management and outcomes of full-term infants without congenital anomalies. STUDY DESIGN: Retrospective cohort of full-term infants without anomalies with and without trisomy 21 admitted to Pediatrix NICUs from 2005 to 2012. We compared diagnoses, management, length of stay, and discharge outcomes. RESULTS: In all, 4623 infants with trisomy 21 and 606 770 infants without trisomy 21 were identified...
May 25, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
Venkataswamy Eshwarachary, Priya Kadam, Sireesha Movva, Shruthi Lingaiah, Riyaz M Akther, Franics X Kidangan, Kiran C Gowda, Rudra R K Golakoti, Meena Lall, Surbhi Mahajan, Pushpa Saviour, Ratna Puri, Ishwar C Verma, Ramprasad L Vedam
INTRODUCTION: Non invasive prenatal testing (NIPT) is a reliable screening method for fetal aneuploidy detection of trisomy 18, 13, 21 along with few sex chromosome abnormalities monosomy X, XXX, XXY (Klinefelter), XYY (Jacob) syndromes and certain microdeletions which include cri-du-chat, DiGeorge, 1p36, Angelman and Prader-Willi syndromes in comparison to the available screening methods. Prenatal screening of Turners syndrome is possible by ultrasound in certain conditions only if there is complete loss of X chromosome...
May 24, 2018: Journal of Maternal-fetal & Neonatal Medicine
Robbie Stewart, Donna Gallagher, Peter Leyden
AIM: The objective of this study is to review the prevalence and degree of hearing loss in children with trisomy 21, their response to intervention and the presence of concomitant pathologies. The project will also highlight the experiences of the children from their parents' and guardians' perspective and the link between perceived service quality and an objective improvement in their hearing after rehabilitation. METHODS: All patients with trisomy 21 who were referred to district general otolaryngology outpatient clinics between 2014 and 2016 were included...
May 22, 2018: Journal of Paediatrics and Child Health
Glenn A MacLean, Jennifer McEldoon, Jialiang Huang, Jeremy Allred, Matthew C Canver, Stuart H Orkin
Individuals with Trisomy 21 (T21) exhibit numerous hematological abnormalities, including reductions in numbers of circulating B and T lymphocytes. To elucidate molecular mechanisms underlying these phenotypes, we differentiated human isogenic disomic and trisomic pluripotent cells, and observed that trisomic cells showed defects in B cell, but not T cell differentiation. Global gene expression of differentiated, trisomic B cells revealed reduced expression of genes encoding endothelin signaling components, namely the Endothelin Receptor B (EDNRB), and its ligand Endothelin1 (EDN1)...
May 22, 2018: Scientific Reports
Ashley Kirkpatrick, Donna Ledlow, Eunice Dixon, Joseph B Philips
This case reports the findings and management of a late preterm female infant born with congenital bilateral eyelid eversion with chemosis. The pathogenic process remains unknown but typically presents at birth, predominantly affecting the upper eyelid of both eyes. Black males, patients with trisomy 21, and collodion infants have a higher incidence of eyelid eversion. Treatment modalities range from conservative therapy including eye patching with antibiotic and lubricating ointment to invasive surgical eyelid suturing...
May 1, 2018: Neonatal Network: NN
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
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