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Preimplantation genetic

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https://www.readbyqxmd.com/read/28100115/paternal-age-is-not-associated-with-pregnancy-outcomes-after-single-thawed-euploid-blastocyst-transfer
#1
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/28099679/clinical-outcomes-for-couples-containing-a-reciprocal-chromosome-translocation-carrier-without-preimplantation-genetic-diagnosis
#2
Biao Yin, Yuanchang Zhu, Tonghua Wu, Shuqiu Shen, Yong Zeng, Desheng Liang
OBJECTIVE: To evaluate the pregnancy outcomes of couples containing a carrier of a reciprocal chromosome translocation (RCT) after assisted reproductive technology without preimplantation genetic diagnosis. METHODS: A retrospective study was performed using data for couples with an RCT carrier and control couples with a normal karyotype (1:4 ratio) who underwent assisted reproductive technology cycles at a Chinese fertility center in 2010-2011. The embryos were fertilized via in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI)...
November 15, 2016: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28073972/awareness-and-attitude-regarding-reproductive-options-of-persons-carrying-a-brca-mutation-and-their-partners
#3
J J G Gietel-Habets, C E M de Die-Smulders, I A P Derks-Smeets, A Tibben, V C G Tjan-Heijnen, R van Golde, E Gomez-Garcia, C M Kets, L A D M van Osch
STUDY QUESTION: To what extent are BRCA mutation carriers and their partners in the Netherlands aware about preimplantation genetic diagnosis (PGD) and prenatal diagnosis (PND) as reproductive options and what is their attitude towards these options? SUMMARY ANSWER: Awareness of PGD (66%) and PND (61%) among BRCA mutation carriers and their partners is relatively high and 80% and 26%, respectively, of BRCA carriers and their partners find offering PGD and PND for hereditary breast and ovarian cancer (HBOC) acceptable...
January 9, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28070710/the-accumulation-of-vitrified-oocytes-is-a-strategy-to-increase-the-number-of-euploid-available-blastocysts-for-transfer-after-preimplantation-genetic-testing
#4
Sandrine Chamayou, Maria Sicali, Carmelita Alecci, Carmen Ragolia, Annalisa Liprino, Daniela Nibali, Giorgia Storaci, Antonietta Cardea, Antonino Guglielmino
PURPOSE: In a preimplantation genetic diagnosis for aneuploidy (PGD-A) program, the more embryos available for biopsy, consequently increases the chances of obtaining euploid embryos to transfer. The aim was to increase the number of viable euploid blastocysts in patients undergoing PGD-A using fresh oocytes together with previously accumulated vitrified oocytes. METHODS: Sixty-nine patients with normal ovarian reserve underwent PGD-A for repeated implantation failure or recurrent pregnancy loss indication...
January 9, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28069174/management-and-counseling-of-the-male-with-advanced-paternal-age
#5
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...
January 6, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28040093/diagnosis-and-clinical-management-of-duplications-and-deletions
#6
REVIEW
Antonio Capalbo, Laura Rienzi, Filippo Maria Ubaldi
Chromosome deletions and duplications-copy number variations (CNVs)-are a major contribution to the genome variability and can be either pathogenic or not. A particular class, the microdeletions and microduplications, which alter <5 Mb, have been extensively associated with developmental delay and intellectual disability. Although their prevalence in pregnancies and newborn is relatively low, their estimates in preimplantation embryos are poorly defined. The introduction of novel technologies for preimplantation genetic diagnosis of aneuploidies (PGD-A) caused new possibilities and challenges associated with diagnosis of subchromosomal CNVs...
January 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28007790/the-effect-of-expressive-writing-intervention-for-infertile-couples-a-randomized-controlled-trial
#7
Yoon Frederiksen, Mia Skytte O'Toole, Mimi Y Mehlsen, Benedicte Hauge, Helle Olesen Elbaek, Robert Zachariae, Hans Jakob Ingerslev
STUDY QUESTION: Is expressive writing intervention (EWI) efficacious in reducing distress and improving pregnancy rates for couples going through ART treatment? SUMMARY ANSWER: Compared to controls, EWI statistically significantly reduced depressive symptoms but not anxiety and infertility-related distress. WHAT IS KNOWN ALREADY: ART treatment is considered stressful. So far, various psychological interventions have been tested for their potential in reducing infertility-related distress and the results are generally positive...
December 21, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27989225/-unaffected-child-born-following-preimplantation-genetic-diagnosis-with-karyomapping
#8
László Nánássy, Gyöngyvér Téglás, Marianna Csenki, Attila Vereczkey
Preimplantation genetic diagnosis for single gene defects is a well established method in assisted reproductive technologies. Karyomapping is a genome wide parental haplotyping using a high density single nucleotide polymorphism array that allows the diagnosis of any single gene defects. A couple with an affected child with primary congenital glaucoma attended at our clinic. Six oocyte-cumulus-complex was retrieved and all three mature oocytes were inseminated. One zygote showed the signs of normal fertilization and was cultured for five days...
December 2016: Orvosi Hetilap
https://www.readbyqxmd.com/read/27979918/pre-term-birth-and-low-birth-weight-following-preimplantation-genetic-diagnosis-analysis-of-88-010-singleton-live-births-following-pgd-and-ivf-cycles
#9
Sesh Kamal Sunkara, Belavendra Antonisamy, Hepsy Y Selliah, Mohan S Kamath
STUDY QUESTION: Is PGD associated with the risk of adverse perinatal outcomes such as pre-term birth (PTB) and low birth weight (LBW)? SUMMARY ANSWER: There was no increase in the risk of adverse perinatal outcomes of PTB, and LBW following PGD compared with autologous IVF. WHAT IS KNOWN ALREADY: Pregnancies resulting from ART are associated with a higher risk of pregnancy complications compared with spontaneously conceived pregnancies. The possible reason of adverse obstetric outcomes following ART has been attributed to the underlying infertility itself and embryo specific epigenetic modifications due to the IVF techniques...
December 15, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27934600/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-albinism
#10
Yi Sun, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang
Human embryonic stem cell (hESC) line chHES-478 was derived from abnormal blastocyst diagnosed with albinism after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-478 cell line carried a compound heterozygous mutation, c.896G>A(p.Arg299His) and c.929_930insC(p.Pro310Glnfs*9), of TYR gene. Characteristic tests proved that the chHES-478 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo...
November 10, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934598/human-embryonic-stem-cells-derived-from-abnormal-blastocyst-donated-by-polycystic-kidney-syndrome-patient
#11
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-468 was derived from abnormal blastocyst donated by polycystic kidney syndrome (PKD) patient after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-468 cell line carried a heterozygous mutation, c.10526_10527delAG, of PKD1. Characteristic tests proved that the chHES-468 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 5, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934597/generation-of-human-embryonic-stem-cells-from-abnormal-blastocyst-diagnosed-with-adrenoleukodystrophy
#12
Qi Ouyang, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Yi Sun
Human embryonic stem cell (hESC) line chHES-480 was derived from abnormal blastocyst diagnosed with adrenoleukodystrophy (ALD) after preimplantation genetic diagnosis (PGD) treatment. DNA sequencing analysis confirmed that chHES-480 cell line carried a hemizygous missense mutation c.1825G>A(p.Glu609Lys) of ABCD1 gene. Characteristic tests proved that the chHES-480 cell line presented typical markers of pluripotency and had the capability to form the three germ layers both in vitro and in vivo.
November 9, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27934588/generation-of-human-embryonic-stem-cell-line-chhes-472-from-abnormal-embryos-diagnosed-with-spinocerebellar-ataxia-type-3
#13
Lvjun Liu, Sicong Zeng, Yi Sun, Xiaoying Zhou, Jing Chen, Juan Du, Guangxiu Lu, Ge Lin, Qi Ouyang
Spinocerebellar ataxia type3 (SCA3) is an autosomal dominant neurodegenerative disorder. Human embryonic stem cell line chHES-472 was derived from abnormal embryo donated by SCA3 patient after preimplantation genetic diagnosis (PGD) treatment. This cell line had a normal karyotype and retained the disease-causing mutant in ATXN3 gene. Characteristic tests proved that the embryonic stem cell line presented typical markers of pluripotency and had the capability to form the three germlayers in vivo.
October 24, 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27924730/congenital-malformations-attributed-to-prenatal-exposure-to-cyclophosphamide
#14
Padmanabhan Rengasamy
Cyclophosphamide (CPA) remains one of the most widely prescribed anticancer drugs. It is also used in the treatment of rheumatoid arthritis, childhood nephrotic syndrome and systemic lupus erythematosus. It is a potent immunosuppressive agent. It is commonly used in blood and bone marrow transplantation. With the growing trend among women postponing childbearing, the number of women who are diagnosed with breast cancer is also increasing thus escalating the chances of exposure of the unborn child to antineoplastic drugs...
December 6, 2016: Anti-cancer Agents in Medicinal Chemistry
https://www.readbyqxmd.com/read/27918161/-current-options-of-preimplantion-genetic-screening-and-preimplantation-genetic-diagnostics
#15
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
#16
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/27884779/gene-targeted-next-generation-sequencing-identifies-pnpla1-mutations-in-patients-with-a-phenotypic-spectrum-of-autosomal-recessive-congenital-ichthyosis-the-impact-of-consanguinity
#17
Hassan Vahidnezhad, Leila Youssefian, Amir Hossein Saeidian, Sirous Zeinali, Parvin Mansouri, Soheila Sotoudeh, Mohammadreza Barzegar, Javad Mohammadi-Asl, Razieh Karamzadeh, Maryam Abiri, Kevin McCormick, Paolo Fortina, Jouni Uitto
Autosomal recessive congenital ichthyosis (ARCI) is a heterogeneous group of disorders associated with mutations in at least nine distinct genes. To ascertain the molecular basis of ichthyosis patients in Iran, a country of ∼80 million people with high prevalence of customary consanguineous marriages, we have developed a gene targeted next generation sequencing array consisting of 38 genes reported in association with ichthyosis phenotypes. In a subset of nine extended consanguineous families we found homozygous missense mutations in the PNPLA1 gene, six of them being distinct and previously unpublished...
November 21, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27882769/-current-issues-of-reproductive-medicine-in-the-czech-republic
#18
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
#19
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...
November 21, 2016: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/27858211/factors-influencing-the-decision-making-process-and-long-term-interpersonal-outcomes-for-parents-who-undergo-preimplantation-genetic-diagnosis-for-fanconi-anemia-a-qualitative-investigation
#20
K Haude, P McCarthy Veach, B LeRoy, H Zierhut
Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents' experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes...
November 17, 2016: Journal of Genetic Counseling
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