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Aneuploidy

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https://www.readbyqxmd.com/read/28523762/a-retrospective-study-of-cytogenetic-results-from-amniotic-fluid-in-5328-fetuses-with-abnormal-obstetric-sonographic-findings
#1
Shuo Zhang, Caixia Lei, Junping Wu, Haiyan Sun, Yuezhou Yang, Yueping Zhang, Xiaoxi Sun
OBJECTIVES: The purpose of this study was to evaluate the diagnostic utility of karyotype analysis of amniotic fluid for fetuses with abnormal sonographic findings and to determine the detection rates of abnormal karyotypes. METHODS: We conducted a retrospective study of 5328 fetuses with abnormal sonographic findings in the first or second trimester enrolled from October 1998 and September 2015. Cytogenetic results from amniotic fluid were obtained in all of these pregnancies...
May 19, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28521575/high-frequency-of-de-novo-daz-microdeletion-in-sperm-nuclei-of-subfertile-men-possible-involvement-of-genome-instability-in-idiopathic-male-infertility
#2
Hossein Mozdarani, Pegah Ghoraeian, Sohail Mozdarani, Parvin Fallahi, Anahita Mohseni-Meybodi
The occurrence and diagnosis of Y-chromosome microdeletions, specifically deletions of the DAZ (Deleted in Azoospermia) genes are an important issue in male infertility. Screening Y chromosome microdeletion is mainly done using polymerase chain reaction (PCR) on blood leukocytes. However, there is some evidence indicating that presence of DAZ in somatic cells might not be indicative of its presence in the germ cell lineage. Therefore, a total of 130 men with poor semen quality were examined for presence of DAZ microdeletion in their leukocytes...
May 19, 2017: Human Fertility: Journal of the British Fertility Society
https://www.readbyqxmd.com/read/28518169/population-based-impact-of-noninvasive-prenatal-screening-on-screening-and-diagnostic-testing-for-fetal-aneuploidy
#3
Lisa Hui, Briohny Hutchinson, Alice Poulton, Jane Halliday
PurposeTo assess the population-wide impact of noninvasive prenatal screening (NIPS) on combined first-trimester screening (CFTS), early ultrasound (11-13 weeks), and invasive prenatal diagnosis in a state with over 73,000 births per year.MethodsAnalysis of population-based data from 2000 to 2015 including (i) invasive prenatal tests, (ii) CFTS uptake, and (iii) total births. Utilization of early ultrasound was analyzed before and after NIPS (2010-2015).ResultsInvasive testing decreased significantly by 39...
May 18, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28518085/analysis-of-chromosome-segregation-histone-acetylation-and-spindle-morphology-in-horse-oocytes
#4
Federica Franciosi, Irene Tessaro, Rozenn Dalbies-Tran, Cecile Douet, Fabrice Reigner, Stefan Deleuze, Pascal Papillier, Ileana Miclea, Valentina Lodde, Alberto M Luciano, Ghylene Goudet
The field of assisted reproduction has been developed to treat infertility in women, companion animals, and endangered species. In the horse, assisted reproduction also allows for the production of embryos from high performers without interrupting their sports career and contributes to an increase in the number of foals from mares of high genetic value. The present manuscript describes the procedures used for collecting immature and mature oocytes from horse ovaries using ovum pick-up (OPU). These oocytes were then used to investigate the incidence of aneuploidy by adapting a protocol previously developed in mice...
May 11, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28516917/maternal-age-dependent-apc-c-mediated-decrease-in-securin-causes-premature-sister-chromatid-separation-in-meiosis-ii
#5
Ibtissem Nabti, Rosanna Grimes, Hema Sarna, Petros Marangos, John Carroll
Sister chromatid attachment during meiosis II (MII) is maintained by securin-mediated inhibition of separase. In maternal ageing, oocytes show increased inter-sister kinetochore distance and premature sister chromatid separation (PSCS), suggesting aberrant separase activity. Here, we find that MII oocytes from aged mice have less securin than oocytes from young mice and that this reduction is mediated by increased destruction by the anaphase promoting complex/cyclosome (APC/C) during meiosis I (MI) exit. Inhibition of the spindle assembly checkpoint (SAC) kinase, Mps1, during MI exit in young oocytes replicates this phenotype...
May 18, 2017: Nature Communications
https://www.readbyqxmd.com/read/28515047/centrosome-amplification-a-suspect-in-breast-cancer-and-racial-disparities
#6
Angela Ogden, Padmashree C G Rida, Ritu Aneja
The multifaceted involvement of centrosome amplification (CA) in tumorigenesis is coming into focus following years of meticulous experimentation, which have elucidated the powerful abilities of CA to promote cellular invasion, disrupt stem cell division, drive chromosomal instability (CIN), and perturb tissue architecture, activities that can accelerate tumor progression. Integration of the extant in vitro, in vivo, and clinical data suggests that in some tissues CA may be a tumor-initiating event, in others a consequential "hit" in multistep tumorigenesis, and in still others non-tumorigenic...
May 17, 2017: Endocrine-related Cancer
https://www.readbyqxmd.com/read/28511174/noninvasive-prenatal-detection-of-trisomy-21-by-targeted-semiconductor-sequencing-a-technical-feasibility-study
#7
Yanwei Xi, Aryan Arbabi, Amy J M McNaughton, Alison Hamilton, Danna Hull, Helene Perras, Tillie Chiu, Shawna Morrison, Claire Goldsmith, Emilie Creede, Gregory J Anger, Christina Honeywell, Mireille Cloutier, Natasha Macchio, Courtney Kiss, Xudong Liu, Susan Crocker, Gregory A Davies, Michael Brudno, Christine M Armour
OBJECTIVE: To develop an alternate noninvasive prenatal testing method for the assessment of trisomy 21 (T21) using a targeted semiconductor sequencing approach. METHODS: A customized AmpliSeq panel was designed with 1,067 primer pairs targeting specific regions on chromosomes 21, 18, 13, and others. A total of 235 samples, including 30 affected with T21, were sequenced with an Ion Torrent Proton sequencer, and a method was developed for assessing the probability of fetal aneuploidy via derivation of a risk score...
May 17, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28510070/sonographic-detection-of-open-spina-bifida-in-the-first-trimester-review-of-the-literature
#8
César Meller, Horacio Aiello, Lucas Otaño
In the beginnings, sonographic diagnosis of open spina bifida (OSB) relied on the meticulous scanning of the fetal vertebrae for abnormalities but many defects were missed. After the mid-1980s, however, with the description of the intracranial findings in the second trimester (the "lemon sign" and the "banana sign"), the prenatal diagnosis of OSB was enhanced. In the last 2 decades, there has been widespread uptake of routine ultrasound examination in the first trimester of pregnancy with the purpose of the measurement of fetal crown-rump length to determine gestational age, to screen for trisomy 21 and other aneuploidies, mainly with the nuchal translucency, and for diagnosis of many major abnormalities...
May 16, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28506992/reduced-mad2-levels-dampen-apoptotic-response-to-non-exchange-sex-chromosomes-and-lead-to-sperm-aneuploidy
#9
Imrul Faisal, Liisa Kauppi
In meiosis, non-exchange homologous chromosomes are at risk for missegregation and should be monitored by the spindle assembly checkpoint (SAC) to avoid formation of aneuploid gametes. Sex chromosome missegregation is particularly common and can lead to sterility or to aneuploid offspring (e.g. individuals with Turner or Klinefelter syndrome). Despite major implications for health and reproduction, modifiers of meiotic SAC robustness and the subsequent apoptotic response in male mammals remain obscure. Levels of SAC proteins, e...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28505706/the-three-vessels-and-trachea-view-3vtv-in-the-first-trimester-of-pregnancy-an-additional-tool-in-screening-for-congenital-heart-defects-chd-in-an-unselected-population
#10
Valentina De Robertis, Georgios Rembouskos, Tiziana Fanelli, Grazia Volpe, Brunella Muto, Paolo Volpe
OBJECTIVE: The aim of the study was to evaluate the feasibility of obtaining the 3VTV in an unselected population undergoing first trimester screening for aneuploidy, and to investigate its role in the early detection of CHD. METHODS: Cardiac examination was performed by expert sonographers. Abnormal findings of 3VTV were classified in 3 different subgroups: number, size and spatial relationship of the vessels. RESULTS: We enrolled 6350 consecutive singleton pregnancies and included 5343 cases...
May 15, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28502197/effect-of-maternal-age-on-spontaneous-abortion-during-the-first-trimester-in-northeast-china
#11
Rulin Dai, Linlin Li, Haibo Zhu, Dongfeng Geng, Shu Deng, Ruizhi Liu
OBJECTIVE: We aimed to determine the relationship between fetal chromosomal abnormalities and maternal age among spontaneous first trimester abortions in women in Northeast China. METHODS: We evaluated 497 chorionic villi samples from patients with a history of spontaneous abortion during the first trimester. We divided the samples into five groups according to maternal age: <25, 25-29, 30-34, 35-39, and ≥40 years. We identified chromosomal abnormalities by fluorescence in situ hybridization...
May 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28500832/combined-pituitary-hormone-deficiency-in-a-girl-with-48-xxxx-and-rathke-s-cleft-cyst
#12
Surabhi Uppal, Youn Hee Jee, Marissa Lightbourne, Joan C Han, Constantine A Stratakis
BACKGROUND: Tetrasomy X is a rare chromosomal aneuploidy seen in girls, associated with facial dysmorphism, premature ovarian insufficiency and intellectual disability. A Rathke's cleft cyst (RCC) is a remnant of Rathke's pouch which may cause multiple pituitary hormone deficiencies by exerting pressure on the pituitary gland in the sella. METHODS/RESULTS: The patient was diagnosed with tetrasomy X by karyotyping during infancy. Brain MRI and multiple endocrine stimulation tests revealed RCC and combined pituitary hormone deficiency (growth hormone deficiency, secondary adrenal insufficiency and central hypothyroidism) likely due to RCC...
January 2017: Hormones: International Journal of Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28500333/novel-algorithms-for-improved-sensitivity-in-non-invasive-prenatal-testing
#13
L F Johansson, E N de Boer, H A de Weerd, F van Dijk, M G Elferink, G H Schuring-Blom, R F Suijkerbuijk, R J Sinke, G J Te Meerman, R H Sijmons, M A Swertz, B Sikkema-Raddatz
Non-invasive prenatal testing (NIPT) of cell-free DNA in maternal plasma, which is a mixture of maternal DNA and a low percentage of fetal DNA, can detect fetal aneuploidies using massively parallel sequencing. Because of the low percentage of fetal DNA, methods with high sensitivity and precision are required. However, sequencing variation lowers sensitivity and hampers detection of trisomy samples. Therefore, we have developed three algorithms to improve sensitivity and specificity: the chi-squared-based variation reduction (χ(2)VR), the regression-based Z-score (RBZ) and the Match QC score...
May 12, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28499534/prenatal-diagnosis-screening-and-diagnostic-tools
#14
REVIEW
Laura M Carlson, Neeta L Vora
The American Congress of Obstetricians and Gynecologists recommends that all pregnant women be offered aneuploidy screening or diagnostic testing. A myriad of screening and testing options are available to patients based on their risk profile and gestational age. Screening options include traditional serum analyte screening, such as first-trimester screening or quadruple screening, and more recently, cell-free DNA. Diagnostic testing choices include chorionic villus sampling and amniocentesis. The number of screening and diagnostic modalities complicates prenatal counseling for physicians and can be difficult for patients to grasp...
June 2017: Obstetrics and Gynecology Clinics of North America
https://www.readbyqxmd.com/read/28498723/advances-in-preimplantation-genetic-testing-for-monogenic-disease-and-aneuploidy
#15
Nathan R Treff, Rebekah S Zimmerman
Genetic testing of preimplantation embryos promises to prevent monogenic disease in children born to at-risk couples, the transfer of unbalanced embryos to patients carrying a balanced translocation, and the use of aneuploid embryos created during in vitro fertilization. Technologies have evolved from fluorescence in situ hybridization to next-generation-sequencing-based aneuploidy screening and allow for simultaneous testing of multiple genetic abnormalities in a single biopsy. The field has also shifted away from polar body or blastomere biopsy and toward trophectoderm biopsy as the new standard...
May 12, 2017: Annual Review of Genomics and Human Genetics
https://www.readbyqxmd.com/read/28497584/recommended-practice-for-laboratory-reporting-of-non-invasive-prenatal-testing-nipt-of-trisomies-13-18-and-21-a-consensus-opinion
#16
Zandra C Deans, Stephanie Allen, Lucy Jenkins, Farrah Khawaja, Ros J Hastings, Kathy Mann, Simon J Patton, Erik A Sistermans, Lyn S Chitty
OBJECTIVE: NIPT for trisomies 13, 18, and 21 is used worldwide. Laboratory reports should provide clear, concise results with test limitations indicated, yet no national or local guidelines are currently available. Here we aim to present minimum best practice guidelines. METHODS: All laboratories registered in the three European quality assurance (EQA) schemes for molecular and cytogenetics were invited to complete an online survey focused on services provided for NIPT and non-invasive prenatal diagnosis (NIPD)...
May 12, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28497001/klinefelter-syndrome-in-association-with-tetralogy-of-fallot-and-congenital-diaphragmatic-hernia
#17
Sethuraman Swaminathan, Sudheer R Gorla, Deborah S Barbouth
Klinefelter syndrome (KS) is the most common sex chromosomal aneuploidy in males. Major cardiovascular and diaphragmatic anomalies are uncommon in this syndrome. Here we report an infant with KS who had tetralogy of Fallot and congenital diaphragmatic hernia, all of which were identified prenatally and managed successfully after birth. Microarray analysis did not reveal any deletions or duplications other than the additional X-chromosome, to account for the additional abnormalities in this infant. To the authors' knowledge, this is the first such report of major cardiac and diaphragm anomaly occurring together, in an infant with KS...
June 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28492742/dna-aneuploidy-in-malignant-salivary-gland-neoplasms-is-independent-of-usp44-protein-expression
#18
Vanessa Fátima Bernardes, Edward W Odell, Ricardo Santiago Gomez, Carolina Cavalieri Gomes
Chromosomal instability, leading to aneuploidy, is one of the hallmarks of human cancers. USP44 (ubiquitin specific peptidase 44) is an important molecule that plays a regulatory role in the mitotic checkpoint and USP44 loss causes chromosome mis-segregation, aneuploidy and tumorigenesis in vivo. In this study, it was investigated the immunoexpression of USP44 in 28 malignant salivary gland neoplasms and associated the results with DNA ploidy status assessed by image cytometry. USP44 protein was widely expressed in most of the tumor samples and no clear association could be established between its expression and DNA ploidy status or tumor size...
March 2017: Brazilian Dental Journal
https://www.readbyqxmd.com/read/28492524/sociodemographic-and-attitudinal-predictors-of-simultaneous-and-redundant-multiple-marker-and-cell-free-dna-screening-among-women-aged-%C3%A2-35-years
#19
A K Lewkowitz, A J Kaimal, K Thao, A O'Leary, O Nseyo, M Kuppermann
OBJECTIVE: To identify characteristics associated with undergoing cell-free DNA (cfDNA) and multiple marker screening (MMS) simultaneously or redundantly (after receiving negative results from the first screening test) among women aged ⩾35 years. STUDY DESIGN: Participants presenting for prenatal testing completed a questionnaire that included measures of pregnancy worry and attitudes toward potential testing outcomes; data on prenatal test use was obtained via medical record review...
May 11, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/28489314/unclassifiable-pattern-of-hypopigmentation-in-a-patient-with-mosaic-partial-12p-tetrasomy-without-pallister-killian-syndrome
#20
Viola Alesi, Maria L Dentici, Fabrizia Restaldi, Valeria Orlando, Maria T Liambo, Chiara Calacci, Rossella Capolino, Maria C Digilio, May El Hachem, Antonio Novelli, Andrea Diociaiuti, Bruno Dallapiccola
Pallister-Killian syndrome (PKS-#OMIM601803) is a multisystem developmental disorder typically due to the presence of an aneuploidy cell line, consisting of a supernumerary tetrasomic chromosomal marker (SCM) arisen from the short arm of chromosome 12 (12p isochromosome). The clinical phenotype, which is strictly related to the percentage and tissue distribution of aneuploid cells, is characterized by craniofacial dysmorphisms, pigmentary skin anomalies, limb shortening, congenital heart defects, diaphragmatic hernia, hypotonia, intellectual disability, and epilepsy...
May 10, 2017: American Journal of Medical Genetics. Part A
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