keyword
MENU ▼
Read by QxMD icon Read
search

"Trisomy 21"

keyword
https://www.readbyqxmd.com/read/29125628/genomics-based-non-invasive-prenatal-testing-for-detection-of-fetal-chromosomal-aneuploidy-in-pregnant-women
#1
REVIEW
Mylène Badeau, Carmen Lindsay, Jonatan Blais, Leon Nshimyumukiza, Yemisi Takwoingi, Sylvie Langlois, France Légaré, Yves Giguère, Alexis F Turgeon, William Witteman, François Rousseau
BACKGROUND: Common fetal aneuploidies include Down syndrome (trisomy 21 or T21), Edward syndrome (trisomy 18 or T18), Patau syndrome (trisomy 13 or T13), Turner syndrome (45,X), Klinefelter syndrome (47,XXY), Triple X syndrome (47,XXX) and 47,XYY syndrome (47,XYY). Prenatal screening for fetal aneuploidies is standard care in many countries, but current biochemical and ultrasound tests have high false negative and false positive rates. The discovery of fetal circulating cell-free DNA (ccfDNA) in maternal blood offers the potential for genomics-based non-invasive prenatal testing (gNIPT) as a more accurate screening method...
November 10, 2017: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/29121006/origin-and-clinical-relevance-of-chromosomal-aberrations-other-than-the-common-trisomies-detected-by-genome-wide-nips-results-of-the-trident-study
#2
Diane Van Opstal, Merel C van Maarle, Klaske Lichtenbelt, Marjan M Weiss, Heleen Schuring-Blom, Shama L Bhola, Mariette J V Hoffer, Karin Huijsdens-van Amsterdam, Merryn V Macville, Angelique J A Kooper, Brigitte H W Faas, Lutgarde Govaerts, Gita M Tan-Sindhunata, Nicolette den Hollander, Ilse Feenstra, Robert-Jan H Galjaard, Dick Oepkes, Stijn Ghesquiere, Rutger W W Brouwer, Lean Beulen, Sander Bollen, Martin G Elferink, Roy Straver, Lidewij Henneman, Godelieve C Page-Christiaens, Erik A Sistermans
PurposeNoninvasive prenatal screening (NIPS) using cell-free DNA in maternal blood is highly sensitive for detecting fetal trisomies 21, 18, and 13. Using a genome-wide approach, other chromosome anomalies can also be detected. We report on the origin, frequency, and clinical significance of these other chromosome aberrations found in pregnancies at risk for trisomy 21, 18, or 13.MethodsWhole-genome shallow massively parallel sequencing was used and all autosomes were analyzed.ResultsIn 78 of 2,527 cases (3...
October 2, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29120460/prenatal-reflex-dna-screening-for-trisomies-21-18-and-13
#3
Nicholas J Wald, Wayne J Huttly, Jonathan P Bestwick, Robert Old, Joan K Morris, Ray Cheng, Joe Aquilina, Elisabeth Peregrine, Devender Roberts, Zarko Alfirevic
PurposeThe purpose of the study was to determine the screening performance of prenatal reflex DNA screening for trisomies 21 (T21), 18 (T18), and 13 (T13) as part of a routine service at five hospitals.MethodsWomen who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free β-human chorionic gonadotropin, nuchal translucency interpreted with maternal age). Those with a risk of having an affected pregnancy ≥1 in 800 were reflexed to a DNA sequencing test using stored plasma from the original blood sample, thereby avoiding the need to recall them...
November 9, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29118296/mismatch-between-fetal-sexing-and-birth-phenotype-a%C3%A2-case-of-complete-androgen-insensitivity-syndrome
#4
Keisuke Yoshii, Yasuhiro Naiki, Yumiko Terada, Maki Fukami, Reiko Horikawa
With advancing maternal age, the number of prenatal genetic tests is increasing in many countries. Prenatal genetic tests, such as amniocentesis, chorionic villus sampling and non-invasive prenatal testing, can disclose fetal chromosomal sex, although these tests were originally designed to prenatally diagnose chromosomal aneuploidies, such as trisomy 21, 18 and 13. Complete androgen insensitivity syndrome (CAIS) is an X-linked recessive disorder caused by an androgen receptor dysfunction leading to hormone resistance...
November 9, 2017: Endocrine Journal
https://www.readbyqxmd.com/read/29108162/fetal-therapy-for-down-syndrome-report-of-three-cases-and-a-review-of-the-literature
#5
Patrick James Baggot, Rocel Medina Baggot
BACKGROUND: Down syndrome (trisomy 21) is a well-known cause of mental retardation. It can be diagnosed in early pregnancy. Scientists have made great strides in outlining the pathophysiologic mechanisms of mental retardation in Down syndrome. Much less has been published on human therapy. To our knowledge, these are the first published cases of fetal therapy for Down syndrome. METHODOLOGY: Reports of three cases. In all cases, treatment was both biochemical (e...
2017: Issues in Law & Medicine
https://www.readbyqxmd.com/read/29093756/a-case-of-placental-trisomy-18-mosaicism-causing-a-false-negative-nipt-result
#6
Jiexia Yang, Yiming Qi, Fangfang Guo, Yaping Hou, Haishan Peng, Dongmei Wang, Haoxin Oy, Aihua Yin
Background: The non-invasive prenatal testing that evaluates circulating cell free DNA, and has been established as an additional pregnancy test for detecting the common fetal trisomies 21, 18 and 13 is rapidly revolutionizing prenatal screening as a result of its increased sensitivity and specificity. However, false positive and false negative results still exist. Case presentation: We presented a case in which the non-invasive prenatal testing results were normal at 15 gestational age (GA), but an ultrasound examination at 30GA showed that the fetus had heart abnormalities, and the third trimester ultrasound at 33GA noted multiple anomalies including a 3...
2017: Molecular Cytogenetics
https://www.readbyqxmd.com/read/29093484/trisomy-21-causes-changes-in-the-circulating-proteome-indicative-of-chronic-autoinflammation
#7
Kelly D Sullivan, Donald Evans, Ahwan Pandey, Thomas H Hraha, Keith P Smith, Neil Markham, Angela L Rachubinski, Kristine Wolter-Warmerdam, Francis Hickey, Joaquin M Espinosa, Thomas Blumenthal
Trisomy 21 (T21) causes Down syndrome (DS), but the mechanisms by which T21 produces the different disease spectrum observed in people with DS are unknown. We recently identified an activated interferon response associated with T21 in human cells of different origins, consistent with overexpression of the four interferon receptors encoded on chromosome 21, and proposed that DS could be understood partially as an interferonopathy. However, the impact of T21 on systemic signaling cascades in living individuals with DS is undefined...
November 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29089484/systematic-proteome-and-proteostasis-profiling-in-human-trisomy-21-fibroblast-cells
#8
Yansheng Liu, Christelle Borel, Li Li, Torsten Müller, Evan G Williams, Pierre-Luc Germain, Marija Buljan, Tatjana Sajic, Paul J Boersema, Wenguang Shao, Marco Faini, Giuseppe Testa, Andreas Beyer, Stylianos E Antonarakis, Ruedi Aebersold
Down syndrome (DS) is mostly caused by a trisomy of the entire Chromosome 21 (Trisomy 21, T21). Here, we use SWATH mass spectrometry to quantify protein abundance and protein turnover in fibroblasts from a monozygotic twin pair discordant for T21, and to profile protein expression in 11 unrelated DS individuals and matched controls. The integration of the steady-state and turnover proteomic data indicates that protein-specific degradation of members of stoichiometric complexes is a major determinant of T21 gene dosage outcome, both within and between individuals...
October 31, 2017: Nature Communications
https://www.readbyqxmd.com/read/29080223/comparison-of-first-tier-cell-free-dna-screening-for-common-aneuploidies-with-conventional-publically-funded-screening
#9
Sylvie Langlois, JoAnn Johnson, François Audibert, Jean Gekas, Jean Claude Forest, André Caron, Keli Harrington, Melanie Pastuck, Hasna Meddour, Amélie Tétu, Julian Little, François Rousseau
OBJECTIVE: This study evaluates the impact of offering cfDNA screening as a first tier test for trisomies 21 and 18. METHODS: This is a prospective study of pregnant women undergoing conventional prenatal screening who were offered cfDNA screening in the first trimester with clinical outcomes obtained on all pregnancies. RESULTS: 1198 pregnant women were recruited. The detection rate of trisomy 21 with standard screening was 83% with a false positive rate of 5...
October 28, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29072700/the-spontaneous-differentiation-and-chromosome-loss-in-ipscs-of-human-trisomy-18-syndrome
#10
Ting Li, Hanzhi Zhao, Xu Han, Jiaying Yao, Lingling Zhang, Ying Guo, Zhen Shao, Ying Jin, Dongmei Lai
Aneuploidy including trisomy results in developmental disabilities and is the leading cause of miscarriages in humans. Unlike trisomy 21, pathogenic mechanisms of trisomy 18 remain unclear. Here, we successfully generated induced pluripotent stem cells (iPSCs) from human amniotic fluid cells (AFCs) with trisomy 18 pregnancies. We found that trisomy 18 iPSCs (18T-iPSCs) were prone to differentiate spontaneously. Intriguingly, 18T-iPSCs lost their extra 18 chromosomes and converted to diploid cells after 10 generations...
October 26, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/29062709/encapsulated-pleural-effusion-due-to-haemophilus-influenzae-biotype-ii-in-a-child-with-trisomy-21-a-case-report-and-literature-review
#11
Masanori Kaneko, Yuki Bando, Tomohiro Fujita, Yoneji Hirose, Eisuke Suganuma, Masahiro Ishii, Takashi Takahashi
Haemophilus influenzae (Hi) can colonize in the upper respiratory tract and cause severe pulmonary infections, especially among immunocompromised children. Herein, we report a case of left encapsulated pleural effusion (EPE) due to Hi in a 24-month-old girl with trisomy 21. She was already vaccinated against Hi type b. The Hi biotype II was isolated from both the blood and aspirated sputum obtained upon admission. Ampicillin/sulbactam 180 mg/kg/day was administered intravenously for 34 days with oxygen supplementation for 4 days...
2017: IDCases
https://www.readbyqxmd.com/read/29059452/first-trimester-crown-rump-length-and-risk-of-chromosomal-aberrations-a-systematic-review-and-meta-analysis
#12
Lena Sagi-Dain, Amir Peleg, Shlomi Sagi
Importance: Lower than expected first-trimester crown-rump length (CRL) is a common sonographic finding, usually leading to reassessment of gestational age. Objective: The aim of this study was to perform a meta-analysis defining the risk of chromosomal aberrations in pregnancies with decreased first-trimester CRL. Evidence Acquisition: A search was conducted by a research librarian in 5 databases, with no time or language restrictions. Original researches examining the risk of chromosomal aberrations in pregnancies with low CRL were selected...
October 2017: Obstetrical & Gynecological Survey
https://www.readbyqxmd.com/read/29058300/trisomy-21-with-t-5-11-chromosomal-translocation-as-new-unfavorable-cytogenetic-abnormalities-in-pediatric-acute-myeloid-leukemia-type-m2-one-case-report-of-nine-year-follow-up-and-literature-review
#13
Lin Wang, Xiao-Yan Wu, Run-Ming Jin, Bing-Yu Zhang, Yi-Ning Qiu
We report one case of pediatric acute myeloid leukemia type 2 (AML-M2) who presented with karyotypic aberration of trisomy 21 with the t(5;11) chromosomal translocation. The patient achieved complete remission after two cycles of chemotherapy of daunorubicin, cytarabine and etoposide. Then, follow-up cytogenetic analysis from bone marrow cell cultures demonstrated a normal karyotype of 46, XY. After 9 years, the patient relapsed and the karyotypic abnormalities of trisomy 21 with t(5;11) reappeared. It was concluded that trisomy 21 with t(5; 11) is a new unfavorable cytogenetic aberration in AML-M2...
October 2017: Journal of Huazhong University of Science and Technology. Medical Sciences
https://www.readbyqxmd.com/read/29057435/influence-of-first-trimester-biochemistry-methodology-on-detection-rate-in-screening-for-trisomy-21
#14
Bartosz Czuba, Dariusz Borowski, Piotr Węgrzyn, Wojciech Cnota, Anna Kubaty, Mirosław Wielgoś, Krzysztof Sodowski
OBJECTIVES: The purpose of the study was to compare detection rates (DR) of FMF-certified and non-certified biochemical tests (BC) in trisomy 21 screening at 11-13 + 6 weeks. MATERIAL AND METHODS: In 2267 singleton pregnancies FMF-certified doctors measured crown to rump length (CRL) and nuchal translucency (NT). Serum samples were tested for free β-hCG and the PAPP-A using 2 analysers (Delfia - Perkin Elmer and Immulite 2000 - DPC), the results were expressed in MoM values and used for computer calculation of the risk for trisomy 21...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29057433/screening-for-trisomy-21-based-on-maternal-age-nuchal-translucency-measurement-first-trimester-biochemistry-and-quantitative-and-qualitative-assessment-of-the-flow-in-the-dv-the-assessment-of-efficacy
#15
Bartosz Czuba, Dariusz Zarotyński, Mariusz Dubiel, Dariusz Borowski, Piotr Węgrzyn, Wojciech Cnota, Małgorzata Reska-Nycz, Marek Mączka, Mirosław Wielgoś, Krzysztof Sodowski, Dawid Serafin, Anna Kubaty, Grzegorz H Bręborowicz
OBJECTIVES: The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative - the assessment of shape of the A-wave (positive or negative), and quantitative - based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy. MATERIAL AND METHODS: The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11- -13 + 6 wks, as a part of a routine screening for chromosomal defects...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/29049012/transcriptome-profiling-uncovers-potential-common-mechanisms-in-fetal-trisomies-18-and-21
#16
Marija Volk, Aleš Maver, Alenka Hodžić, Luca Lovrečić, Borut Peterlin
Human trisomies have recently been investigated using transcriptomics approaches to identify the gene expression (GE) signatures characteristic of each of these specific aneuploidy conditions. We hypothesized that the viability of cells with gross genomic imbalances might be associated with the activation of resilience mechanisms that are common to different trisomies and that are reflected by specific shared GE patterns. We report in this article our microarray GE analyses of amniocytes from fetuses with viable trisomy conditions, trisomy 21 or trisomy 18, to detect such common expression signatures...
October 2017: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29048729/beyond-down-syndrome-phenotype-paternally-derived-isodicentric-chromosome-21-with-partial-monosomy-21q22-3
#17
Manesha Putra, Urvashi Surti, Jie Hu, Deana Steele, Michele Clemens, Devereux N Saller, Svetlana A Yatsenko, Aleksandar Rajkovic
Inverted isodicentric chromosome 21 is a rare form of chromosomal rearrangement that may result in trisomy 21; sometimes this rearrangement may also lead to segmental monosomy of the terminal long arm of chromosome 21. In this report, we describe the prenatal diagnosis and neonatal follow-up of a child with a paternally derived, de novo isodicentric chromosome 21 and a concurrent ∼1.2 Mb deletion of the 21q22.3 region [46,XX,idic(21)(q22.3)]. This child presented with unusual phenotype of Down syndrome and additional defects including esophageal atresia and tethered cord syndrome...
December 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29039166/-detection-of-cell-free-fetal-dna-in-maternal-plasma-for-noninvasive-prenatal-screening-of-fetal-chromosomal-aneuploidies-in-women-of-advanced-maternal-age
#18
Hui Zhu, Zhengyou Miao, Yeqing Qian, Hongge Li, Jinglei Jin, Jing He, Minyue Dong
OBJECTIVE: To evaluate the efficiency of cell-free fetal DNA detection as a non-invasive prenatal screening (NIPS) method for women of advanced maternal age. METHODS: A total of 10 584 women of advanced maternal age who received NIPS were recruited from the Women's Hospital, Zhejiang University School of Medicine and Jiaxing Maternal and Child Health Hospital during February 2015 and September 2016. The pregnancy outcome was followed-up. The sensitivity, specificity, positive and negative predictive value of fetal chromosomal aneuploidy detected in NIPS were analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037564/prenatal-diagnosis-of-low-level-mosaicism-for-trisomy-21-with-rare-karyotype-detected-by-noninvasive-prenatal-testing
#19
Hong Wu, Zong-Yu Miao, Xiao-Fei Hou, Xiao-Yan Liu, Hui-Yuan Shao
No abstract text is available yet for this article.
October 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29037558/monozygotic-twins-discordant-for-trisomy-21-discussion-of-etiological-events-involved
#20
Yao-Lung Chang, Wu-Pei Yi, An-Shine Chao, Kuan-Ju Chen, Po-Jen Cheng, Tzu-Hao Wang, Shuenn-Dyh Chang
OBJECTIVE: To elucidate the etiologies of discordant trisomy 21 in monozygotic twin pregnancy. CASE REPORT: A monochorionic diamniotic twin pregnancy with hydrops and cleft lip (twin 1) found in one fetus presented at gestational age of 17 weeks. Amniotic fluid karyotyping showed nonmosaic trisomy 21 in twin 1 (47, XY, +21 [20]) and a normal karyotype in twin 2 (46, XY [20]). Short tandem repeat (STR) polymorphism markers revealed that the two fetuses were monozygotic, and the two chromosomes 21 were maternal isodisomy in the trisomy fetus...
October 2017: Taiwanese Journal of Obstetrics & Gynecology
keyword
keyword
16031
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"