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Preimplantation genetic

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https://www.readbyqxmd.com/read/29030490/early-sex-dependent-differences-in-response-to-environmental-stress
#1
Serafin Pérez-Cerezales, Priscila Ramos-Ibeas, Dimitrios Rizos, Pat Lonergan, Pablo Bermejo-Alvarez, Alfonso Gutierrez-Adan
Developmental plasticity enables the appearance of long-term effects in offspring caused by exposure to environmental stressors during embryonic and foetal life. These long-term effects can be traced to pre- and post-implantation development, and in both cases the effects are usually sex-specific. During preimplantation development, male and female embryos exhibit an extensive transcriptional dimorphism mainly driven by incomplete X-chromosome inactivation. These early developmental stages are crucial for the establishment of epigenetic marks that will be conserved throughout development, making it a particularly susceptible period for the appearance of long-term epigenetic-based phenotypes...
October 13, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29026418/heterozygosity-analysis-of-polycystic-kidney-disease-1-gene-microsatellite-markers-for-linkage-analysis-of-autosomal-dominant-polycystic-kidney-disease-type-1-in-the-iranian-population
#2
Razieh Fatehi, Sharifeh Khosravi, Maryam Abedi, Rasoul Salehi, Yousof Gheisari
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease. Although imaging techniques are a means of accurate diagnosis when the cysts appear in the third or fourth decades of the patient's life, they are of little value for early diagnosis. Genetic tests are required for preimplantation genetic diagnosis, decision-making for kidney donation to an affected relative. Although mutation of the polycystic kidney disease (PKD1) gene is solely responsible for the most cases of ADPKD, direct genetic testing is limited by the large size of this gene and the presence of many mutations without hot spots...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29020788/-complete-molar-pregancy-with-development-of-non-metastatic-persistent-trophoblastic-diseasea-case-report-reflection-of-rules-of-care-and-decision-making-processes-forensic-responsibility-and-the-position-of-doctor-in-the-general-gynecologic-and-obstetric-outpatient
#3
S Zeman, P Trávník, K Dvořáková, J Zemanová
OBJECTIVE: To define the forensic responsibility and the position of doctor in the general gynecologic and obstetric outpatient practice in care of the complete molar pregancy. DESIGN: Case report and review article. SETTING: General gynecologic and obstetric outpatient practice Velké Meziříčí; Sanatorium REPROMEDA, Centre of reproductive medicine and preimplantation genetics, Brno; Histopatology department of Hospital Jihlava. CASE REPORT: The changing clinical presentation of complete molar pregnancy with development of non-metastatic gestational trophoblastic disease: management...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28988928/preimplantation-genetic-screening-results-of-a-worldwide-web-based-survey
#4
Ariel Weissman, Gon Shoham, Zeev Shoham, Simon Fishel, Milton Leong, Yuval Yaron
Our objective was to evaluate and characterize the extent and patterns of worldwide usage of preimplantation genetic screening (PGS) among the assisted reproductive technique community. A prospective, web-based questionnaire with questions relating to practices of, and views on, PGS was directed to users and non-users of PGS. A total of 386 IVF units from 70 countries conducting 342,600 IVF cycles annually responded to the survey. A total of 77% of respondents routinely carry out PGS in their clinics for a variety of indications: advanced maternal age (27%), recurrent implantation failure (32%) and recurrent pregnancy loss (31%)...
September 21, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28987789/female-age-serum-antim%C3%A3-llerian-hormone-level-and-number-of-oocytes-affect-the-rate-and-number-of-euploid-blastocysts-in-in%C3%A2-vitro-fertilization-intracytoplasmic-sperm-injection-cycles
#5
Antonio La Marca, Maria Giulia Minasi, Giovanna Sighinolfi, Pierfrancesco Greco, Cindy Argento, Valentina Grisendi, Francesco Fiorentino, Ermanno Greco
OBJECTIVE: To study the relative role of female age and ovarian reserve, measured through serum antimüllerian hormone (AMH) in determining the rate and number of euploid blastocysts in in vitro fertilization (IVF)/intracytoplasmic sperm injection (ICSI) cycles. DESIGN: Retrospective analysis of cycles performed in 2014-2015. SETTING: Tertiary referral IVF center. PATIENT(S): A total of 578 infertile couples undergoing IVF/ICSI and preimplantation genetic screening (PGS) analysis...
October 4, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28985908/effect-of-the-male-factor-on-the-clinical-outcome-of-intracytoplasmic-sperm-injection-combined-with-preimplantation-aneuploidy-testing-observational-longitudinal-cohort-study-of-1-219-consecutive-cycles
#6
Rossella Mazzilli, Danilo Cimadomo, Alberto Vaiarelli, Antonio Capalbo, Lisa Dovere, Erminia Alviggi, Ludovica Dusi, Carlo Foresta, Francesco Lombardo, Andrea Lenzi, Herman Tournaye, Carlo Alviggi, Laura Rienzi, Filippo Maria Ubaldi
OBJECTIVE: To evaluate the impact of the male factor on the outcomes of intracytoplasmic sperm injection (ICSI) cycles combined with preimplantation genetic testing for aneuploidies (PGT-A). DESIGN: Observational longitudinal cohort study. SETTING: Private in vitro fertilization (IVF) center. PATIENT(S): A total of 1,219 oocyte retrievals divided into five study groups according to sperm parameters: normozoospermia (N), moderate male factor (MMF), severe oligoasthenoteratozoospermia (OAT-S), obstructive azoospermia (OA), and nonobstructive azoospermia (NOA)...
October 3, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28982142/optimal-timing-of-blastocyst-vitrification-after-trophectoderm-biopsy-for-preimplantation-genetic-screening
#7
Hsiu-Hui Chen, Chun-Chia Huang, En-Hui Cheng, Tsung-Hsien Lee, Lee-Feng Chien, Maw-Sheng Lee
Is the timing of vitrification after trophectoderm (TE) biopsy associated with successful implantation and pregnancy after the embryo transfer of blastocysts subjected to preimplantation genetic screening (PGS)? In this retrospective cohort study, 1329 blastocysts from 223 patients were subjected to TE biopsy for performing array comparative genomic hybridization (CGH) tests. The PGS and frozen blastocyst transfer (FET) cycles were performed from December 2012 to May 2015. Only the good quality and expanded blastocysts on day 5 or 6 were selected for biopsy...
2017: PloS One
https://www.readbyqxmd.com/read/28980182/combined-advanced-parental-age-has-an-additive-negative-effect-on-live-birth-rates-data-from-4057-first-ivf-icsi-cycles
#8
Nicole O McPherson, Deirdre Zander-Fox, Andrew D Vincent, Michelle Lane
PURPOSE: The purpose of this study is to determine if there is an additive effect of combined advanced maternal and paternal age on pregnancy and live birth rates. METHODS: Retrospective data analysis of 4057 first cycles at a fertility centre between 2009 and 2013 was compiled. Donor, preimplantation genetic screening and double embryo transfer cycles were excluded. Main outcomes measured were clinical pregnancy, viable pregnancy, live birth and term birth. RESULTS: Logistic regression indicated strong negative associations for maternal ages exceeding 27 years with clinical pregnancies (p < 0...
October 4, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28978073/presence-of-embryonic-dna-in-culture-medium
#9
Linlin Yang, Qiaoying Lv, Wei Chen, Jian Sun, Yu Wu, Yiying Wang, Xiong Chen, Xiaojun Chen, Zhenbo Zhang
Preimplantation genetic diagnosis (PGD) has successfully assisted couples with genetic diseases to conceive healthy babies during the past decades. However, biopsy of the blastomere has potential lesion to the embryos which commonly results in abortion. Thus, a noninvasive PGD is needed. In the past, the presence of genetic materials in maternal plasma or serum has triggered a great innovation of noninvasive prenatal diagnosis. Nevertheless, it is not clear whether embryonic DNA is also present in embryonic culture medium...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28973897/mapping-allele-with-resolved-carrier-status-of-robertsonian-and-reciprocal-translocation-in-human-preimplantation-embryos
#10
Jiawei Xu, Zhen Zhang, Wenbin Niu, Qingling Yang, Guidong Yao, Senlin Shi, Haixia Jin, Wenyan Song, Lei Chen, Xiangyang Zhang, Yihong Guo, Yingchun Su, Linli Hu, Jun Zhai, Yile Zhang, Fangli Dong, Yumei Gao, Wenhui Li, Shiping Bo, Mintao Hu, Jun Ren, Lei Huang, Sijia Lu, X Sunney Xie, Yingpu Sun
Reciprocal translocations (RecT) and Robertsonian translocations (RobT) are among the most common chromosomal abnormalities that cause infertility and birth defects. Preimplantation genetic testing for aneuploidy using comprehensive chromosome screening for in vitro fertilization enables embryo selection with balanced chromosomal ploidy; however, it is normally unable to determine whether an embryo is a translocation carrier. Here we report a method named "Mapping Allele with Resolved Carrier Status" (MaReCs), which enables chromosomal ploidy screening and resolution of the translocation carrier status of the same embryo...
September 27, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28965243/prediction-of-a-rare-chromosomal-aberration-simultaneously-with-next-generation-sequencing-based-comprehensive-chromosome-screening-in-human-preimplantation-embryos-for-recurrent-pregnancy-loss
#11
Yi-Xuan Lee, Chien-Wen Chen, Yi-Hui Lin, Chii-Ruey Tzeng, Chi-Huang Chen
Preimplantation genetic testing has been used widely in recent years as a part of assisted reproductive technology (ART) owing to the breakthrough development of deoxyribonucleic acid (DNA) sequencing. With the advancement of technology and increased resolution of next generation sequencing (NGS), extensive comprehensive chromosome screening along with small clinically significant deletions and duplications can possibly be performed simultaneously. Here, we present a case of rare chromosomal aberrations: 46,XY,dup(15)(q11...
September 30, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28965139/epigenetic-changes-in-preimplantation-embryos-subjected-to-laser-manipulation
#12
Sachin D Honguntikar, Sujith Raj Salian, Fiona D'Souza, Shubhashree Uppangala, Guruprasad Kalthur, Satish Kumar Adiga
The advantage of using laser for assisted hatching in routine assisted reproductive technology (ART) practice is debatable. Recently, it has been shown that laser-manipulated mouse embryos had compromised genetic integrity. However, the impact of laser-assisted hatching (LAH) on the epigenetic integrity of the preimplantation embryos is not elucidated so far. Since continuous thermal stress on embryos was found to lower mRNA levels of de novo (bovine) methyl transferases in embryos, we hypothesize that thermal energy induced during LAH may alter the epigenetic signature through abnormal de novo methyl transferases (Dnmts) levels...
September 30, 2017: Lasers in Medical Science
https://www.readbyqxmd.com/read/28961822/human-female-meiosis-revised-new-insights-into-the-mechanisms-of-chromosome-segregation-and-aneuploidies-from-advanced-genomics-and-time-lapse-imaging
#13
Antonio Capalbo, Eva R Hoffmann, Danilo Cimadomo, Filippo Maria Ubaldi, Laura Rienzi
BACKGROUND: The unbalanced transmission of chromosomes in human gametes and early preimplantation embryos causes aneuploidy, which is a major cause of infertility and pregnancy failure. A baseline of 20% of human oocytes are estimated to be aneuploid and this increases exponentially from 30 to 35 years, reaching on average 80% by 42 years. As a result, reproductive senescence in human females is predominantly determined by the accelerated decline in genetic quality of oocytes from 30 years of age...
August 30, 2017: Human Reproduction Update
https://www.readbyqxmd.com/read/28959787/comparative-preimplantation-genetic-diagnosis-policy-in-europe-and-the-usa-and-its-implications-for-reproductive-tourism
#14
Michelle J Bayefsky
Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD), a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for 'saviour siblings' who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world...
December 2016: Reproductive Biomedicine & Society Online
https://www.readbyqxmd.com/read/28958703/duration-of-blastulation-may-be-associated-with-ongoing-pregnancy-rate-in-single-euploid-blastocyst-transfer-cycles
#15
Sezcan Mumusoglu, Irem Y Ozbek, Lale K Sokmensuer, Mehtap Polat, Gurkan Bozdag, Evangelos Papanikolaou, Hakan Yarali
Not all euploid embryos implant, necessitating additional tools to select viable blastocysts in preimplantation genetic screening cycles. In this retrospective cohort study, 129 consecutive patients who underwent 129 single euploid blastocyst transfers in cryopreserved embryo transfer cycles were included. All embryos were individually cultured in a time-lapse incubator from intracytoplasmic sperm injection up to trophoectoderm biopsy. Twenty-three time-lapse morphokinetic variables were tested among patients with (n = 68) or without (n = 61) ongoing pregnancy...
September 14, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#16
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28947109/preimplantation-genetics-and-other-reproductive-options-in-huntington-disease
#17
Jan K Blancato, Erin Wolfe, Preston C Sacks
Preimplantation genetic diagnosis (PGD) is a form of prenatal diagnosis applied to potential parents with known carrier status of a genetic disease, such as Huntington disease. It employs the use of polymerase chain reaction to amplify single cells from early embryos obtained with in vitro fertilization (IVF) techniques. PGD allows the couple the chance to have a pregnancy and livebirth child without Huntington disease, although there are some risks and expenses related to the procedures. Success of the procedure may be greater than standard IVF because the patients are not infertility patients, but are undergoing the procedure to avoid passing a highly deleterious disease gene to offspring...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28928993/what-drives-embryo-development-chromosomal-normality-or-mitochondria
#18
A Bayram, I Elkhatib, A Arnanz, A Linan, F Ruiz, B Lawrenz, H M Fatemi
OBJECTIVE: To report the arrest of euploid embryos with high mtDNA content. DESIGN: A report of 2 cases. SETTING: Private fertility clinic. PATIENTS: 2 patients, 45 and 40 years old undergoing IVF treatment. INTERVENTIONS: Mature oocytes were collected and vitrified from two ovarian stimulations. Postthaw, survived mature oocytes underwent fertilization by intracytoplasmic sperm injection (ICSI)...
2017: Case Reports in Genetics
https://www.readbyqxmd.com/read/28923286/abnormally-fertilized-oocytes-can-result-in-healthy-live-births-improved-genetic-technologies-for-preimplantation-genetic-testing-can-be-used-to-rescue-viable-embryos-in-in-vitro-fertilization-cycles
#19
Antonio Capalbo, Nathan Treff, Danilo Cimadomo, Xin Tao, Susanna Ferrero, Alberto Vaiarelli, Silvia Colamaria, Roberta Maggiulli, Giovanna Orlando, Catello Scarica, Richard Scott, Filippo Maria Ubaldi, Laura Rienzi
OBJECTIVE: To test whether abnormally fertilized oocyte (AFO)-derived blastocysts are diploid and can be rescued for clinical use. DESIGN: Longitudinal-cohort study from January 2015 to September 2016 involving IVF cycles with preimplantation genetic testing for aneuploidy (PGT-A). Ploidy assessment was incorporated whenever a blastocyst from a monopronuclear (1PN) or tripronuclear zygote (2PN + 1 smaller PN; 2.1 PN) was obtained. SETTING: Private IVF clinics and genetics laboratories...
September 15, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#20
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo there is a recurrence risk due to parental germ line mosaicism, depending on the gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
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