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preimplantation genetic screening

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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
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
https://www.readbyqxmd.com/read/27907920/aneuploidy-detection-and-mtdna-quantification-in-bovine-embryos-with-different-cleavage-onset-using-a-next-generation-sequencing-based-protocol
#12
Miroslav Hornak, David Kubicek, Petr Broz, Pavlina Hulinska, Katerina Hanzalova, Darren Griffin, Marie Machatkova, Jiri Rubes
Bovine embryos are now routinely used in agricultural systems as a means of disseminating superior genetics worldwide, ultimately with the aim of feeding an ever-growing population. Further investigations, common for human IVF embryos, thus have priority to improve cattle IVF, as has screening for aneuploidy (abnormal chromosome number). Although the incidence and consequences of aneuploidy are well documented in human preimplantation embryos, they are less well known for the embryos of other animals. To address this, we assessed aneuploidy levels in thirty-one 2-cell bovine embryos derived from early- and late-cleaving zygotes...
2016: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/27882769/-current-issues-of-reproductive-medicine-in-the-czech-republic
#13
P Ventruba, J Žáková, M Ješeta, D Rumpík, M Brandejská, I Crha, D Hlinka, L Jelínková, E Oráčová, J Pavelková, K Řežábek, K Veselá
INTRODUCTION: During the 25th symposium of assisted reproduction in Brno was lunch time organised as the lunch table discussion on the selected topics of assisted reproduction. More than 150 specialists reviewed themes related to gynecology and embryology.Discussed topics: Lunch table discussion covered the following topics: (1) Cross-border health care in assisted reproduction; (2) Indication for PGS (preimplantation genetic screening) in the context of actual information; (3) Does ovarian stimulation belong to the ambulance of registering gynecologists? (4) Therapy with clomifen - only for IVF specialists? (5) How and with whom should psychological support be directed during IVF? (6) Stimulation in women with low ovarian reserve; (7) Is basic semen analyses sufficient? (8) Time-lapse systems as relevant markers of embryonic development; (9) How to be oriented with choices of media and consumables in the IVF lab, and (10) "Freeze All" - is this new trend in cryopreservation suitable for all? CONCLUSIONS: Panel conclusions were presented during the afternoon session, which had great attendance, featured lively commentary, and produced some definitive consensus...
2016: Ceská Gynekologie
https://www.readbyqxmd.com/read/27868395/genetic-diagnosis-in-hemophilia-a-from-southern-china-five-novel-mutations-and-one-preimplantation-genetic-analysis
#14
J Chen, J Wang, X Y Lin, Y W Xu, Z H He, H Y Li, S Q Chen, W Y Jiang
INTRODUCTION: As there is currently no complete cure for hemophilia A (HA), the identification of pathogenic mutations in factor VIII (FVIII) gene from HA patients and carriers, which can contribute to genetic counseling prenatal diagnosis, and preimplantation genetic diagnosis (PGD), is an important step to prevent HA. METHODS: A total of 14 unrelated Chinese HA subjects (FVIII activity <40%), 20 carrier subjects, three fetuses, and one PGD were included in this study...
April 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27853913/differences-in-pregnancy-outcomes-in-donor-egg-frozen-embryo-transfer-fet-cycles-following-preimplantation-genetic-screening-pgs-a-single-center-retrospective-study
#15
Alison Coates, Brandon J Bankowski, Allen Kung, Darren K Griffin, Santiago Munne
PURPOSE: This study aims to test the hypothesis, in a single-center retrospective analysis, that live birth rates are significantly different when utilizing preimplantation genetic screening (PGS) compared to not utilizing PGS in frozen-thawed embryo transfers in our patients that use eggs from young, anonymous donors. The question therefore arises of whether PGS is an appropriate intervention for donor egg cycles. METHODS: Live birth rates per cycle and live birth rates per embryo transferred after 398 frozen embryo transfer (FET) cycles were examined from patients who elected to have PGS compared to those who did not...
January 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27842993/diagnosis-and-clinical-management-of-embryonic-mosaicism
#16
REVIEW
Nidhee M Sachdev, Susan M Maxwell, Andria G Besser, James A Grifo
Embryonic mosaicism occurs when two or more cell populations with different genotypes are present within the same embryo. New diagnostic techniques for preimplantation genetic screening (PGS), such as next-generation sequencing, have led to increased reporting of mosaicism. The interpretation of mosaicism is complicated because the transfer of some mosaic embryos has resulted in live births. Mosaic embryos may represent a third category between normal (euploidy) and abnormal (aneuploidy). This category of mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27833086/comparative-study-of-single-nucleotide-polymorphism-array-and-next-generation-sequencing-based-strategies-on-triploid-identification-in-preimplantation-genetic-diagnosis-and-screen
#17
Jiawei Xu, Wenbin Niu, Zhaofeng Peng, Xiao Bao, Meixiang Zhang, Linlin Wang, Linqing Du, Nan Zhang, Yingpu Sun
Triploidy occurred about 2-3% in human pregnancies and contributed to approximately 15% of chromosomally caused human early miscarriage. It is essential for preimplantation genetic diagnosis and screen to distinct triploidy sensitively. Here, we performed comparative investigations between MALBAC-NGS and MDA-SNP array sensitivity on triploidy detection. Self-correction and reference-correction algorism were used to analyze the NGS data. We identified 5 triploid embryos in 1198 embryos of 218 PGD and PGS cycles using MDA-SNP array, the rate of tripoidy was 4...
November 9, 2016: Oncotarget
https://www.readbyqxmd.com/read/27816233/detection-of-segmental-aneuploidy-and-mosaicism-in-the-human-preimplantation-embryo-technical-considerations-and-limitations
#18
REVIEW
Nathan R Treff, Jason M Franasiak
Whole-chromosome aneuploidy screening has become a common practice to improve outcomes and decrease embryonic transfer order in patients undergoing treatment for infertility through in vitro fertilization. Despite implementation of this powerful technology, a significant percentage of euploid embryos fail to result in successful deliveries. As technology has evolved, detection of subchromosomal imbalances and embryonic mosaicism has become possible, and these serve as potential explanations for euploid embryo transfer failures...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27816230/type-of-chromosome-abnormality-affects-embryo-morphology-dynamics
#19
Maria Del Carmen Nogales, Fernando Bronet, Natalia Basile, Eva María Martínez, Alberto Liñán, Lorena Rodrigo, Marcos Meseguer
OBJECTIVE: To study the differences in the cleavage time between types of embryo chromosomal abnormalities and elaborate algorithm to exclude aneuploid embryos according to the likelihood to be euploid. DESIGN: Retrospective cohort study. SETTING: University affiliated private center. PATIENT(S): Preimplantational genetic screening patients (n = 112) including cases of advanced maternal age, repeated implantation failure, and recurrent miscarriage...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/27815806/first-successful-trial-of-preimplantation-genetic-diagnosis-for-pantothenate-kinase-associated-neurodegeneration
#20
Objoon Trachoo, Chonthicha Satirapod, Bhakbhoom Panthan, Matchuporn Sukprasert, Angkana Charoenyingwattana, Wasun Chantratita, Wicharn Choktanasiri, Suradej Hongeng
PURPOSE: We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation. METHODS: ICSI-IVF was performed on a Thai couple, 34-year-old female and 33-year-old male, with a family history of PKAN in their first child. Following fertilization, each of the embryos were biopsied in the cleavage stage and subsequently processed for whole-genome amplification...
January 2017: Journal of Assisted Reproduction and Genetics
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