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preimplantation genetic screening

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https://www.readbyqxmd.com/read/28988928/preimplantation-genetic-screening-results-of-a-worldwide-web-based-survey
#1
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
#2
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/28982142/optimal-timing-of-blastocyst-vitrification-after-trophectoderm-biopsy-for-preimplantation-genetic-screening
#3
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
#4
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
#5
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
#6
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
#7
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/28958703/duration-of-blastulation-may-be-associated-with-ongoing-pregnancy-rate-in-single-euploid-blastocyst-transfer-cycles
#8
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/28928993/what-drives-embryo-development-chromosomal-normality-or-mitochondria
#9
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/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
#10
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/28916332/assessing-the-use-of-assisted-reproductive-technology-in-the-united-states-by-non-united-states-residents
#11
Aaron D Levine, Sheree L Boulet, Roberta M Berry, Denise J Jamieson, Hillary B Alberta-Sherer, Dmitry M Kissin
OBJECTIVE: To study cross-border reproductive care (CBRC) by assessing the frequency and nature of assisted reproductive technology (ART) care that non-U.S. residents receive in the United States. DESIGN: Retrospective study of ART cycles reported to the Centers for Disease Control and Prevention's National ART Surveillance System (NASS) from 2006 to 2013. SETTING: Private and academic ART clinics. PATIENT(S): Patients who participated in ART cycles in the United States from 2006 to 2013...
August 31, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28888353/preimplantation-genetic-diagnosis-and-screening-current-status-and-future-challenges
#12
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
#13
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/28797703/preimplantation-genetic-diagnosis-of-x-linked-charcot-marie-tooth-disease-by-indirect-linkage-analysis
#14
Irena Borgulová, Martina Putzová, Inna Soldatova, David Stejskal
OBJECTIVE: To present methodical approach of preimplantation genetic diagnosis (PGD) as an option for an unaffected pregnancy in reproductive-age couples who have a genetic risk of the X-linked dominant peripheral neuropathy Charcot-Marie-Tooth type 1 disease. PATIENTS AND METHODS: We performed PGD of X-linked Charcot-Marie-Tooth type 1 disease using haplotyping/indirect linkage analysis, when during analysis we reach to exclude embryos that carry a high-risk haplotype linked to the causal mutation p...
August 7, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28748493/cost-effectiveness-of-preimplantation-genetic-screening-for-women-older-than-37-undergoing-in-vitro-fertilization
#15
Stephen C Collins, Xiao Xu, Winifred Mak
PURPOSE: Adding preimplantation genetic screening to in vitro fertilization has been shown to increase live birth rate in women older than 37. However, preimplantation genetic screening is an expensive procedure. Information on the cost-effectiveness of preimplantation genetic screening can help inform clinical decision making. METHODS: We constructed a decision analytic model for a hypothetical fresh, autologous in vitro fertilization cycle (with versus without preimplantation genetic screening) for women older than age 37 who had a successful oocyte retrieval and development of at least one blastocyst...
July 27, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28743110/clinical-endocrine-and-molecular-genetic-analysis-of-a-large-cohort-of-saudi-arabian-patients-with-laron-syndrome
#16
Abdullah A Al-Ashwal, Afaf Al-Sagheir, Khushnooda Ramzan, Mohammed Al-Owain, Rabab Allam, Alya Qari, Nouf S Al-Numair, Faiqa Imtiaz
BACKGROUND/AIMS: Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. SUBJECTS AND METHODS: A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene...
2017: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/28735705/impact-of-preimplantation-genetic-screening-on-donor-oocyte-recipient-cycles-in-the-united-states
#17
David H Barad, Sarah K Darmon, Vitaly A Kushnir, David F Albertini, Norbert Gleicher
OBJECTIVE: Our objective was to estimate the contribution of preimplantation genetic screening to in vitro fertilization pregnancy outcomes in donor oocyte-recipient cycles. STUDY DESIGN: This was a retrospective cross-sectional study of US national data from the Society for Assisted Reproductive Technology Clinic Outcome Reporting System between 2005 and 2013. Society for Assisted Reproductive Technology Clinic Outcome Reporting relies on voluntarily annual reports by more than 90% of US in vitro fertilization centers...
July 20, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28733530/presence-of-embryonic-dna-in-culture-medium
#18
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...
June 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28697911/preimplantation-genetic-screening-what-is-the-clinical-efficiency
#19
EDITORIAL
Richard J Paulson
No abstract text is available yet for this article.
July 8, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28676910/morphokinetic-parameters-from-a-time-lapse-monitoring-system-cannot-accurately-predict-the-ploidy-of-embryos
#20
Jingye Zhang, Wenrong Tao, Hui Liu, Guanling Yu, Mei Li, Shuiying Ma, Keliang Wu
PURPOSE: This study aimed to test whether there is an association between embryo morphokinetic parameters and ploidy status. METHODS: Patients with high risk of aneuploidy were analyzed by time-lapse microscopy combined with preimplantation genetic screening (PGS). Accordingly, 256 blastocysts from 75 patients were subjected to trophectoderm biopsy and microarray comparative genomic hybridization (array-CGH). Blastocyst development process was analyzed using time-lapse images...
July 4, 2017: Journal of Assisted Reproduction and Genetics
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