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Screening of aneuploidies

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https://www.readbyqxmd.com/read/28925570/first-trimester-screening-based-on-ultrasound-and-cfdna-vs-first-trimester-combined-screening-a-randomized-controlled-study
#1
Karl Oliver Kagan, Fabrina Sroka, Jiri Sonek, Harald Abele, Kai Lüthgens, Maximilian Schmid, Philipp Wagner, Sara Brucker, Diethelm Wallwiener, Markus Hoopmann
OBJECTIVE: Prospective randomized trial to compare the performance of first trimester combined screening (FTCS) with an approach that uses the combination of a detailed ultrasound examination and cfDNA analysis. METHODS: Pregnant women with a normal first-trimester ultrasound examination at 11 to 13 weeks' gestation (fetal NT ≤3.5 mm and no fetal defects) were randomized into two groups. In the first group, the risk of aneuploidy was assessed using FTCS based on the most recent FMF UK algorithm...
September 19, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28925395/small-molecules-targeted-to-the-microtubule-hec1-interaction-inhibit-cancer-cell-growth-through-microtubule-stabilization
#2
M Ferrara, G Sessa, M Fiore, F Bernard, I A Asteriti, E Cundari, G Colotti, S Ferla, M Desideri, S Buglioni, D Trisciuoglio, D Del Bufalo, A Brancale, F Degrassi
Highly expressed in cancer protein 1 (Hec1) is a subunit of the kinetochore (KT)-associated Ndc80 complex, which ensures proper segregation of sister chromatids at mitosis by mediating the interaction between KTs and microtubules (MTs). HEC1 mRNA and protein are highly expressed in many malignancies as part of a signature of chromosome instability. These properties render Hec1 a promising molecular target for developing therapeutic drugs that exert their anticancer activities by producing massive chromosome aneuploidy...
September 18, 2017: Oncogene
https://www.readbyqxmd.com/read/28921398/preliminary-analysis-of-numerical-chromosome-abnormalities-in-reciprocal-and-robertsonian-translocation-preimplantation-genetic-diagnosis-cases-with-24-chromosomal-analysis-with-an-acgh-snp-microarray
#3
Yanxin Xie, Yanwen Xu, Jing Wang, Benyu Miao, Yanhong Zeng, Chenhui Ding, Jun Gao, Canquan Zhou
PURPOSE: The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes...
September 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28913147/summary-of-2185-prenatal-invasive-procedures-in-a-single-center-a-retrospective-analysis
#4
Hüseyin Çağlayan Özcan, Mete Gürol Uğur, Seyhun Sucu, Aynur Mustafa, Neslihan Bayramoğlu Tepe, Özcan Balat
OBJECTIVE: To determine the frequency, indications, and outcomes of diagnostic invasive prenatal procedures (DIPP) performed in a university hospital. MATERIALS AND METHODS: This retrospective, observational study included 2185 cases of DIPP (chorionic villus sampling, amniocentesis, and cordocentesis) performed at the department of obstetrics and gynecology of a university hospital between 2010 and 2016. We included all DIPP cases performed between 11 and 24 weeks of gestation...
June 2017: Turk J Obstet Gynecol
https://www.readbyqxmd.com/read/28900794/diagnosis-of-parental-balanced-reciprocal-translocations-by-trophectoderm-biopsy-and-comprehensive-chromosomal-screening
#5
L W Sundheimer, L Liu, R P Buyalos, G Hubert, Z Al-Safi, M Shamonki
PURPOSE: This study investigates a case series of eight couples who underwent trophectoderm (TE) biopsy and comprehensive chromosomal screening (CCS) for routine aneuploidy screening and were found to have CCS results concerning for previously undetected parental balanced reciprocal translocations. METHODS: In each case, controlled ovarian hyperstimulation and in vitro fertilization (IVF) yielded multiple blastocysts that each underwent CCS with high-density oligonucleotide microarray comparative genomic hybridization (aCGH)...
September 12, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28892219/offering-non-invasive-prenatal-testing-as-part-of-routine-clinical-service-can-high-levels-of-informed-choice-be-maintained
#6
Celine Lewis, Melissa Hill, Lyn S Chitty
OBJECTIVES: To assess rates of informed choice among women offered NIPT for aneuploidy as part of routine clinical care. METHODS: A cross-sectional survey was conducted across six antenatal clinics in England. Women with a high risk (≥1/150) Down syndrome screening result were offered NIPT, invasive testing or no further testing. Pre-test counselling was delivered as part of routine care by the local maternity team. Women were given a questionnaire containing a measure of informed choice immediately after pre-test counselling...
September 11, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28888353/preimplantation-genetic-diagnosis-and-screening-current-status-and-future-challenges
#7
REVIEW
Hsin-Fu Chen, Shee-Uan Chen, Gwo-Chin Ma, Sung-Tsang Hsieh, Horng-Der Tsai, Yu-Shih Yang, Ming Chen
Preimplantation genetic diagnosis (PGD) is a clinically feasible technology to prevent the transmission of monogenic inherited disorders in families afflicted the diseases to the future offsprings. The major technical hurdle is it does not have a general formula for all mutations, thus different gene locus needs individualized, customized design to make the diagnosis accurate enough to be applied on PGD, in which the quantity of DNA is scarce, whereas timely result is sometimes requested if fresh embryo transfer is desired...
September 6, 2017: Journal of the Formosan Medical Association, Taiwan Yi Zhi
https://www.readbyqxmd.com/read/28885040/validation-of-next-generation-sequencer-for-24-chromosome-aneuploidy-screening-in-human-embryos
#8
Kabir Sachdeva, Richard Discutido, Firas Albuz, Rawan Almekosh, Braulio Peramo
BACKGROUND: Next-Generation Sequencing (NGS) is the latest approach for preimplantation genetic diagnoses (PGD). AIM: The purpose of this study was to standardize and validate an NGS method for comprehensive chromosome screening and to investigate its applicability to PGD. METHODS: Embryo biopsy, whole-genome amplification, array comparative genomic hybridization (aCGH), and semiconductor sequencing were employed. RESULTS: A total of 204 whole-genome-amplified products were tested with an NGS-based protocol, from which 100 samples were used for standardization and to evaluate the quality of the results produced by this new technique...
September 8, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28880692/clinical-outcome-of-pregnancies-with-the-prenatal-double-bubble-sign-a-five-year-experience-from-one-single-centre-in-mainland-china
#9
Yu Yang, Ping He, Dong-Zhi Li
The aim of this study was to describe the risk of aneuploidy, associated structural anomalies and clinical outcome in pregnancies with the prenatal double bubble sign. A retrospective study on ultrasound reports and pregnancy outcomes was performed in 71 foetuses with double bubble sign, who were examined at the Guangzhou Women and Children Medical Center during a five-year period. Forty-nine patients had the regular prenatal care since first trimester; of these, 20 had the sonographic sign before 24 weeks and the remaining 29 had the sonographic diagnosis after 24 weeks...
September 7, 2017: Journal of Obstetrics and Gynaecology: the Journal of the Institute of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28873375/non-invasive-prenatal-testing-for-sex-chromosome-aneuploidy-in-routine-clinical-practice
#10
Louise Kornman, Ricardo Palma-Dias, Debbie Nisbet, Fergus Scott, Melody Menezes, Fabricio da Silva Costa, Andrew McLennan
OBJECTIVES: To assess the accuracy of non-invasive prenatal testing (NIPT) for sex chromosome aneuploidy (SCA) in routine clinical practice and to review counselling and sonographic issues arising in SCA cases. METHODS: Three specialist Australian obstetric ultrasound and prenatal diagnosis practices offering NIPT after 10 weeks' gestation participated in this study. NIPT was reported for chromosomes 21, 18, 13, X, and Y. RESULTS: NIPT screening was performed in 5,267 singleton pregnancies...
September 6, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28872762/communicating-risk-with-aneuploidy-screening-things-are-never-as-simple-as-they-appear-to-be
#11
Julian Robinson, Louise Wilkins-Haug
The introduction of a new technology, such as an aneuploidy screening test, is an opportunity for advancement, but it is also a risk for misuse and harm. The enthusiasm of researchers, prospective parents, and the biomedical industry should be balanced with a measured approach. Optimal counseling for a particular screening or prenatal diagnostic test to be chosen, or declined, involves a comprehensive understanding of the available tests, the conditions to be screened for, time, and good communication skills...
September 5, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28870159/obstetric-professionals-perceptions-of-non-invasive-prenatal-testing-for-down-syndrome-clinical-usefulness-compared-with-existing-tests-and-ethical-implications
#12
Olivia Miu Yung Ngan, Huso Yi, Samuel Yeung Shan Wong, Daljit Sahota, Shenaz Ahmed
BACKGROUND: While non-invasive prenatal testing (NIPT) for fetal aneuploidy is commercially available in many countries, little is known about how obstetric professionals in non-Western populations perceive the clinical usefulness of NIPT in comparison with existing first-trimester combined screening (FTS) for Down syndrome (DS) or invasive prenatal diagnosis (IPD), or perceptions of their ethical concerns arising from the use of NIPT. METHODS: A cross-sectional survey among 327 obstetric professionals (237 midwives, 90 obstetricians) in Hong Kong...
September 5, 2017: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/28860487/identification-of-pyrrolopyrimidine-derivative-pp-13-as-a-novel-microtubule-destabilizing-agent-with-promising-anticancer-properties
#13
Pauline Gilson, Fernando Josa-Prado, Claire Beauvineau, Delphine Naud-Martin, Laetitia Vanwonterghem, Florence Mahuteau-Betzer, Alexis Moreno, Pierre Falson, Laurence Lafanechère, Véronique Frachet, Jean-Luc Coll, Jose Fernando Díaz, Amandine Hurbin, Benoit Busser
Despite the emergence of targeted therapies and immunotherapy, chemotherapy remains the gold-standard for the treatment of most patients with solid malignancies. Spindle poisons that interfere with microtubule dynamics are commonly used in chemotherapy drug combinations. However, their troublesome side effects and the emergence of chemoresistance highlight the need for identifying alternative agents. We performed a high throughput cell-based screening and selected a pyrrolopyrimidine molecule (named PP-13)...
August 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28859781/no-261-prenatal-screening-for-fetal-aneuploidy-in-singleton-pregnancies
#14
David Chitayat, Sylvie Langlois, R Douglas Wilson
OBJECTIVE: To develop a Canadian consensus document on maternal screening for fetal aneuploidy (e.g., Down syndrome and trisomy 18) in singleton pregnancies. OPTIONS: Pregnancy screening for fetal aneuploidy started in the mid 1960s, using maternal age as the screening test. New developments in maternal serum and ultrasound screening have made it possible to offer all pregnant patients a non-invasive screening test to assess their risk of having a fetus with aneuploidy to determine whether invasive prenatal diagnostic testing is necessary...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859779/no-262-prenatal-screening-for-and-diagnosis-of-aneuploidy-in-twin-pregnancies
#15
François Audibert, Alain Gagnon
OBJECTIVE: To provide a Canadian consensus document with recommendations on prenatal screening for and diagnosis of fetal aneuploidy (e.g., Down syndrome and trisomy 18) in twin pregnancies. OPTIONS: The process of prenatal screening and diagnosis in twin pregnancies is complex. This document reviews the options available to pregnant women and the challenges specific to screening and diagnosis in a twin pregnancy. OUTCOMES: Clinicians will be better informed about the accuracy of different screening options in twin pregnancies and about techniques of invasive prenatal diagnosis in twins...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28859766/no-348-joint-sogc-ccmg-guideline-update-on-prenatal-screening-for-fetal-aneuploidy-fetal-anomalies-and-adverse-pregnancy-outcomes
#16
Francois Audibert, Isabelle De Bie, Jo-Ann Johnson, Nanette Okun, R Douglas Wilson, Christine Armour, David Chitayat, Raymond Kim
OBJECTIVE: To review the available prenatal screening options in light of the recent technical advances and to provide an update of previous guidelines in the field of prenatal screening. INTENDED USERS: Health care providers involved in prenatal screening, including general practitioners, obstetricians, midwives, maternal fetal medicine specialists, geneticists, and radiologists. TARGET POPULATION: All pregnant women receiving counselling and providing informed consent for prenatal screening...
September 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28826601/significant-correlation-between-anti-m%C3%A3-llerian-hormone-and-embryo-euploidy-in-a-subpopulation-of-infertile-patients
#17
Itai Gat, Basheer AlKudmani, Karen Wong, Khaled Zohni, Noga Fuchs Weizman, Clifford Librach, Prati Sharma
Anti-Müllerian hormone (AMH) is a standard marker of ovarian reserve. Correlation between AMH and egg euploidy is controversial. We evaluated the association between AMH and blastocyst euploidy rate examined by pre-implantation genetic screening (PGS). This retrospective study was conducted at the CReATe Fertility Centre. We included single IVF cycles of 216 infertile couples, which resulted in 911 blastocysts subjected to array comparative genomic hybridization and evaluated IVF outcome after embryo transfer...
August 1, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28808015/a-p53-dependent-response-limits-the-viability-of-mammalian-haploid-cells
#18
Teresa Olbrich, Cristina Mayor-Ruiz, Maria Vega-Sendino, Carmen Gomez, Sagrario Ortega, Sergio Ruiz, Oscar Fernandez-Capetillo
The recent development of haploid cell lines has facilitated forward genetic screenings in mammalian cells. These lines include near-haploid human cell lines isolated from a patient with chronic myelogenous leukemia (KBM7 and HAP1), as well as haploid embryonic stem cells derived from several organisms. In all cases, haploidy was shown to be an unstable state, so that cultures of mammalian haploid cells rapidly become enriched in diploids. Here we show that the observed diploidization is due to a proliferative disadvantage of haploid cells compared with diploid cells...
August 29, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28805610/validation-of-a-high-throughput-and-robust-technique-bacs-on-beads-assay-karyolite-bobs-for-pre-implantation-aneuploidy-screening
#19
Grace Wing Shan Kong, Yanlin Ma, Jian Ou, Yvonne Ka Yin Kwok, Wei Wang, Queenie Sum Yee Yeung, Cherry Kit Man Wong, Qi Li, Wen Xu, Weiying Lu, Hong Li, Tin Chiu Li, Kwong Wai Choy
OBJECTIVE: This study aims to validate the BACs-on-Beads (BoB) technology as a robust and high throughput method for pre-implantation genetic screening (PGS) for aneuploidy. MATERIAL AND METHODS: The performances with respect to the sensitivity, specificity, success rate and detection rate of this technique from new BoBs technology and traditional array chromosomal genomic hybridization (aCGH) were compared. And the use of BoBs as a screening tool for euploid embryos in PGS was evaluated...
August 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28792998/validation-of-qf-pcr-for-prenatal-diagnoses-in-a-brazilian-population
#20
Renata Wendel de Moraes, Mario Henrique Burlacchini de Carvalho, Antonio Gomes de Amorim-Filho, Rossana Pulcineli Vieira Francisco, Renata Moscolini Romão, José Eduardo Levi, Marcelo Zugaib
OBJECTIVES: Quantitative fluorescence polymerase chain reaction (QF-PCR) is a rapid and reliable method for screening aneuploidies, but in Brazil, it is not used in public services. We investigated the accuracy of QF-PCR for the prenatal recognition of common aneuploidies and compared these results with cytogenetic results in our laboratory. METHOD: A ChromoQuant QF-PCR kit containing 24 primer pairs targeting loci on chromosomes 21, 13, 18, X and Y was employed to identify aneuploidies of the referred chromosomes...
July 2017: Clinics
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