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Preimplantation genetic screening

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https://www.readbyqxmd.com/read/28431828/clinical-use-of-monopronucleated-zygotes-following-blastocyst-culture-and-preimplantation-genetic-screening-including-verification-of-biparental-chromosome-inheritance
#1
Cara K Bradley, Maria Traversa, Natalie Hobson, Alison J Gee, Steven J McArthur
In assisted reproduction, embryos derived from monopronucleated (1PN) zygotes are considered abnormal and unsuitable for clinical use. Outcomes of 1PN-derived embryos designated for preimplantation genetic screening (PGS) were analysed. These embryos, especially from intracytoplasmic sperm injection (ICSI), were found to have a low developmental potential; 1PN and 2PN day 5 blastocyst development for IVF was 14.8% versus 36.4% (P < 0.0001), and for ICSI, 6.6% versus 34.0% (P < 0.0001), respectively. With the use of comparative genomic hybridization or next-generation sequencing, PGS was successfully carried out for 74 IVF and 32 ICSI 1PN-derived blastocysts, revealing adjusted abnormality rates of 39...
March 27, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28428962/a-higher-ovarian-response-after-stimulation-for-ivf-is-related-to-a-higher-number-of-euploid-embryos
#2
Elena Labarta, Ernesto Bosch, Amparo Mercader, Pilar Alamá, Emilia Mateu, Antonio Pellicer
This study has analysed the relationship between ovarian response and the number of euploid embryos. This is a post hoc analysis of a subset of data generated during a prospective cohort study previously published. Forty-six oocyte donors were subjected to ovarian stimulation with 150 IU of rFSH and 75 IU of hp-hMG in a GnRH agonist long protocol. Preimplantation genetic screening was performed in all viable embryos. We observed a positive relationship between ovarian response and the number of euploid embryos...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28428943/pathogenic-variant-in-nlrp7-19q13-42-associated-with-recurrent-gestational-trophoblastic-disease-data-from-early-embryo-development-observed-during-in-vitro-fertilization
#3
E Scott Sills, Alexandra J Obregon-Tito, Harry Gao, Thomas K McWilliams, Anthony T Gordon, Catharine A Adams, Rima Slim
OBJECTIVE: To describe in vitro development of human embryos derived from an individual with a homozygous pathogenic variant in NLRP7 (19q13.42) and recurrent hydatidiform mole (HM), an autosomal recessive condition thought to occur secondary to an oocyte defect. METHODS: A patient with five consecutive HM pregnancies was genomically evaluated via next generation sequencing followed by controlled ovarian hyperstimulation, in vitro fertilization (IVF) with intracytoplasmic sperm injection, embryo culture, and preimplantation genetic screening...
March 2017: Clinical and Experimental Reproductive Medicine
https://www.readbyqxmd.com/read/28416168/non-invasive-preimplantation-genetic-screening-using-array-comparative-genomic-hybridization-on-spent-culture-media-a-proof-of-concept-pilot-study
#4
Michael Feichtinger, Enrico Vaccari, Luca Carli, Elisabeth Wallner, Ulrike Mädel, Katharina Figl, Simone Palini, Wilfried Feichtinger
The aim of this pilot study was to assess if array comparative genomic hybridization (aCGH), non-invasive preimplantation genetic screening (PGS) on blastocyst culture media is feasible. Therefore, aCGH analysis was carried out on 22 spent blastocyst culture media samples after polar body PGS because of advanced maternal age. All oocytes were fertilized by intracytoplasmic sperm injection and all embryos underwent assisted hatching. Concordance of polar body analysis and culture media genetic results was assessed...
March 28, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28394645/new-protocol-based-on-massive-parallel-sequencing-for-aneuploidy-screening-of-preimplantation-human-embryos
#5
Xavier Vendrell, Victoria Fernández-Pedrosa, Juan Carlos Triviño, Rosa Bautista-Llácer, Carmen Collado, Oscar Rodríguez, Elena García-Mengual, Empar Ferrer, Carmen Calatayud, Miguel Ruiz-Jorro
Novel next-generation sequencing procedures have rapidly emerged into the preimplantation genetic screening framework. This work presents the design and validation of a new low-coverage whole-genome sequencing assay for aneuploidy detection in single blastomeres and trophectodermal samples from preimplantation embryos. The validation ensures analytical sensitivity, specificity, robustness, precision, limit of detection, resolution, and reproducibility. Specific parameters to measure the performance are defined, and the results are compared with a standardized array-based method to stablish the concordance...
June 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28381082/embryo-transfer-a-review-of-timing-and-techniques
#6
Pietro Bortoletto, Jennifer Bakkensen, Raymond M Anchan
Since the first successful human in vitro fertilization (IVF) pregnancy nearly 40 years ago, remarkable progress has been made in assisted reproductive technology (ART). Improvements in oocyte retrieval, embryo culture, genetic screening, and embryo selection have contributed to dramatic improvements in IVF outcomes. A more robust understanding of embryologic development has driven innovation in not only the timing of embryo transfer but also the number of embryos to transfer. Additionally, overcoming the technical hurdle of embryo vitrification has given both physicians and patients several benefits including the flexibility to mitigate effects of superovulation on the endometrium, limit the number of embryos transferred, afforded an opportunity to screen the quality of embryos both by evaluating in vitro development as well as preimplantation genetic testing...
April 4, 2017: Minerva Endocrinologica
https://www.readbyqxmd.com/read/28357616/prenatal-screening-for-chromosomal-abnormalities-in-ivf-patients-that-opted-for-preimplantation-genetic-screening-diagnosis-pgs-d-a-need-for-revised-algorithms-in-the-era-of-personalized-medicine
#7
Afua Takyi, Joaquin Santolaya-Forgas
Obstetricians offer prenatal screening for most common chromosomal abnormalities to all pregnant women including those that had in vitro fertilization (IVF) and preimplantation genetic screening/diagnosis (PGS/D). We propose that free fetal DNA in maternal circulation together with the second trimester maternal serum alfa feto protein (MSAFP) and ultrasound imaging is the best prenatal screening test for chromosomal abnormalities and congenital anomalies in IVF-PGD/S patients because risk estimations from all other prenatal screening algorithms for chromosomal abnormalities depend heavily on maternal age which is irrelevant in PGS/D patients...
March 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28347334/is-the-hypothesis-of-preimplantation-genetic-screening-pgs-still-supportable-a-review
#8
REVIEW
Norbert Gleicher, Raoul Orvieto
The hypothesis of preimplantation genetic diagnosis (PGS) was first proposed 20 years ago, suggesting that elimination of aneuploid embryos prior to transfer will improve implantation rates of remaining embryos during in vitro fertilization (IVF), increase pregnancy and live birth rates and reduce miscarriages. The aforementioned improved outcome was based on 5 essential assumptions: (i) Most IVF cycles fail because of aneuploid embryos. (ii) Their elimination prior to embryo transfer will improve IVF outcomes...
March 27, 2017: Journal of Ovarian Research
https://www.readbyqxmd.com/read/28340305/the-clinical-application-of-ngs-based-snp-haplotyping-for-pgd-of-hb-h-disease
#9
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α(3.7)/αα and -(SEA)/αα for PGD of Hb H disease. One out of the ten blastocysts (B11) was successfully diagnosed as genotype -α(3...
June 2017: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/28321529/the-cumulative-dose-of-gonadotropins-used-for-controlled-ovarian-stimulation-does-not-influence-the-odds-of-embryonic-aneuploidy-in-patients-with-normal-ovarian-response
#10
Lucky Sekhon, Kathryn Shaia, Anthony Santistevan, Karen Hunter Cohn, Joseph A Lee, Piraye Yurttas Beim, Alan B Copperman
OBJECTIVE: Controlled ovarian hyperstimulation (COH) promotes multifollicular growth, increasing the chance of obtaining euploid embryos that will successfully implant. Whether aneuploidy is increased from COH with exogenous gonadotropins interfering with natural selection of dominant follicles is a concern. This study evaluates the association between gonadotropin exposure and aneuploidy. METHODS: This is a retrospective cohort study of 828 patients that underwent 1122 IVF cycles involving controlled ovarian stimulation and trophectoderm biopsy for preimplantation genetic screening (PGS), from 2010 to 2015...
March 20, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28299549/elective-single-blastocyst-transfer-in-advanced-maternal-age
#11
Samer Tannus, Weon-Young Son, Michael Haim Dahan
PURPOSE: The purpose of this study was to investigate reproductive outcomes following elective single blastocyst transfer (eSBT) compared with those of double blastocyst transfer (DBT) in advanced maternal age. METHODS: This was a retrospective cohort study performed at an academic fertility center. All women aged 40 and over for whom in vitro fertilization (IVF) cycles were performed and in whom embryo culture was extended to the blastocyst stage were reviewed for possible inclusion...
March 15, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28265801/performing-and-declining-pgd-accounts-of-jewish-israeli-women-who-carry-a-brca1-2-mutation-or-partners-of-male-mutation-carriers
#12
Efrat Dagan, Daphna Birenbaum-Carmeli, Eitan Friedman, Baruch Feldman
To describe factors associated with preimplantation genetic diagnosis (PGD) decisions among Jewish Israeli BRCA1/2 carriers or spouses of a male carrier, we contacted all women who initiated PGD consultation for embryonic BRCA1/2 mutation detection at Sheba Medical Center, prior to March 2014. Applying a qualitative approach, we asked women to elaborate on the factors they considered in either opting for PGD or discontinuing the screening procedure. Participants were 18 Jewish Israeli women; 14 were carriers of one of the Ashkenazi founder mutations in BRCA1/2, and four were spouses of male mutation carriers, who underwent at least one cycle of PGD...
March 6, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28216909/aneuploidy-screening-by-array-comparative-genomic-hybridization-improves-success-rates-of-in-vitro-fertilization-a-multicenter-indian-study
#13
Aditi Kotdawala, Deven Patel, Javier Herrero, Rajni Khajuria, Nalini Mahajan, Manish Banker
OBJECTIVE: To evaluate the usefulness of preimplantation genetic screening (PGS) using array comparative genomic hybridization (aCGH) in the Indian population. MATERIALS AND METHODS: This is a retrospective, multicenter study including 235 PGS cycles following intracytoplasmic sperm injection performed at six different infertility centers from September 2013 to June 2015. Patients were divided as per maternal age in several groups (<35, 35-36, 37-38, 39-40, and >40 years) and as per indication for undergoing PGS...
October 2016: Journal of Human Reproductive Sciences
https://www.readbyqxmd.com/read/28211357/preimplantation-genetic-diagnosis-and-screening-by-array-comparative-genomic-hybridisation-experience-of-more-than-100-cases-in-a-single-centre
#14
J Fc Chow, W Sb Yeung, V Cy Lee, E Yl Lau, P C Ho, E Hy Ng
INTRODUCTION: Preimplantation genetic screening has been proposed to improve the in-vitro fertilisation outcome by screening for aneuploid embryos or blastocysts. This study aimed to report the outcome of 133 cycles of preimplantation genetic diagnosis and screening by array comparative genomic hybridisation. METHODS: This study of case series was conducted in a tertiary assisted reproductive centre in Hong Kong. Patients who underwent preimplantation genetic diagnosis for chromosomal abnormalities or preimplantation genetic screening between 1 April 2012 and 30 June 2015 were included...
February 17, 2017: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/28188593/re-analysis-of-aneuploidy-blastocysts-with-an-inner-cell-mass-and-different-regional-trophectoderm-cells
#15
Jin Huang, Liying Yan, Sijia Lu, Nan Zhao, Jie Qiao
PURPOSE: The purpose of this study is to explore which part of the trophectoderm best represents the inner cell mass after aCGH analysis. METHODS: Fifty-one preimplantation genetic diagnosis/preimplantation genetic screening of abnormal blastocysts diagnosed by array comparative genomic hybridization were included in this study. Blastocysts were thawed, incubated for 3 to 4 h, and then biopsied. Four regions were biopsied per blastocyst, including the inner cell mass (ICM), trophectoderm (TE) cells opposite the ICM, TE cells at the upper right of the ICM, and TE cells at the lower right of the ICM...
February 10, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28139240/optimal-euploid-embryo-transfer-strategy-fresh-versus-frozen-after-preimplantation-genetic-screening-with-next-generation-sequencing-a-randomized-controlled-trial
#16
Alison Coates, Allen Kung, Emily Mounts, John Hesla, Brandon Bankowski, Elizabeth Barbieri, Baris Ata, Jacques Cohen, Santiago Munné
OBJECTIVE: To compare two commonly used protocols (fresh vs. vitrified) used to transfer euploid blastocysts after IVF with preimplantation genetic screening. DESIGN: Randomized controlled trial. SETTING: Private assisted reproduction center. PATIENT(S): A total of 179 patients undergoing IVF treatment using preimplantation genetic screening. INTERVENTION(S): Patients were randomized at the time of hCG administration to either a freeze-all cycle or a fresh day 6 ET during the stimulated cycle...
March 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28129970/counselling-considerations-for-chromosomal-mosaicism-detected-by-preimplantation-genetic-screening
#17
Andria G Besser, Emily L Mounts
The evolution of preimplantation genetic screening (PGS) for aneuploidy to blastocyst biopsy and more sensitive 24-chromosome screening techniques has resulted in a new diagnostic category of PGS results: those classified as mosaic. This diagnosis presents significant challenges for clinicians in developing policies regarding transfer and storage of such embryos, as well as in providing genetic counselling for patients prior to and following PGS. Given the high frequency of mosaic PGS results and the wide range of possible associated outcomes, there is an urgent need to understand how to appropriately counsel patients regarding such embryos...
January 16, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28100115/paternal-age-is-not-associated-with-pregnancy-outcomes-after-single-thawed-euploid-blastocyst-transfer
#18
Ashley W Tiegs, Nidhee M Sachdev, Jamie A Grifo, David H McCulloh, Frederick Licciardi
Although controversial, increasing paternal age has been shown to negatively affect assisted reproductive technology (ART) outcomes and success rates. Most studies investigating the effect of paternal age on ART outcomes use a donor oocyte model to minimize maternal aneuploidy contribution. This study sought to determine whether increasing paternal age is associated with adverse in vitro fertilization (IVF) outcomes when aneuploidy is minimized using preimplantation genetic screening. There were 573 single thawed euploid embryo transfers from 473 patients undergoing oocyte donor and autologous IVF cycles...
January 1, 2017: Reproductive Sciences
https://www.readbyqxmd.com/read/28069174/management-and-counseling-of-the-male-with-advanced-paternal-age
#19
REVIEW
Michael O Jennings, Ryan C Owen, David Keefe, Edward D Kim
Increasing percentages of children are being born to older fathers. This has resulted in concerns about the potential adverse effects of advanced paternal age. To help clinicians counsel couples, a systemic review was performed to attempt to address questions that these couples may ask: Should routine sperm testing be performed in older males? Should preimplantation genetic diagnosis (PGD) be performed? How do providers counsel patients about risk? Should young males freeze sperm if they plan to delay paternity? Using the terms "advanced paternal age", "semen testing", "preimplantation genetic diagnosis/screening", and "cryopreservation", a comprehensive search was performed in PubMed and the Cochrane Library, and numerous international societal guidelines were reviewed...
February 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27918161/-current-options-of-preimplantion-genetic-screening-and-preimplantation-genetic-diagnostics
#20
V Šimečková
OBJECTIVE: The aim of this work is to summarize the current knowledge about preimplantation genetic screening and diagnostics. DESIGN: A review article. SETTING: Department of Gynecology and Obstetrics, District Hospital Šternberk, IVF Clinic, Olomouc. RESULTS: Preimplantation genetic testing is a complex of genetic and molecular cytogenetic examinations, which can help to detect abnormalities in embryos before transfer into the uterus of the mother...
2016: Ceská Gynekologie
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