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Preimplantation genetic

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https://www.readbyqxmd.com/read/29915225/preimplantation-genetic-screening-with-spent-culture-medium-blastocoel-fluid-for-in-vitro-fertilization
#1
Penghao Li, Zhe Song, Yaxin Yao, Tianhua Huang, Rurong Mao, Jun Huang, Yongyi Ma, Xin Dong, Wenlong Huang, Jihua Huang, Tianjian Chen, Ting Qu, Lingxiao Li, Ying Zhong, Jiang Gu
Preimplantation genetic screening (PGS) detects chromosomal aneuploidy from DNA extracted from trophectodermal biopsy of the embryos before implantation. Although a controlled study showed no difference in pregnancy rates between this invasive cell biopsy technique and a non-biopsied control group, the potential long-term damage by the current PGS method has not be completely ruled out. We therefore tested a less-invasive protocol which utilizes spent culture medium combining with blastocoel fluid (ECB) to assess chromosomal aneuploidy...
June 18, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29912374/luteal-phase-anovulatory-follicles-result-in-the-production-of-competent-oocytes-intra-patient-paired-case-control-study-comparing-follicular-versus-luteal-phase-stimulations-in-the-same-ovarian-cycle
#2
Danilo Cimadomo, Alberto Vaiarelli, Silvia Colamaria, Elisabetta Trabucco, Carlo Alviggi, Roberta Venturella, Erminia Alviggi, Ramona Carmelo, Laura Rienzi, Filippo Maria Ubaldi
STUDY QUESTION: Are the mean numbers of blastocysts obtained from sibling cohorts of oocytes recruited after follicular phase and luteal phase stimulations (FPS and LPS) in the same ovarian cycle similar? SUMMARY ANSWER: The cohorts of oocytes obtained after LPS are larger than their paired-FPS-derived cohorts and show a comparable competence, thus resulting in a larger mean number of blastocysts. WHAT IS KNOWN ALREADY: Three theories of follicle recruitment have been postulated to date: (i) the 'continuous recruitment' theory, (ii) the 'single recruitment episode' theory and (iii) the 'wave' theory...
June 15, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29908770/pregnancy-outcomes-from-more-than-1-800-in-vitro-fertilization-cycles-with-the-use-of-24-chromosome-single-nucleotide-polymorphism-based-preimplantation-genetic-testing-for-aneuploidy
#3
Alexander L Simon, Michelle Kiehl, Erin Fischer, J Glenn Proctor, Mark R Bush, Carolyn Givens, Matthew Rabinowitz, Zachary P Demko
OBJECTIVE: To measure in vitro fertilization (IVF) outcomes following 24-chromosome single‒nucleotide-polymorphism (SNP)-based preimplantation genetic testing for aneuploidy (PGT-A) and euploid embryo transfer. DESIGN: Retrospective. SETTING: Fertility clinics and laboratory. PATIENT(S): Women 20-46 years of age undergoing IVF treatment. INTERVENTION(S): Twenty-four-chromosome SNP-based PGT-A of day 5/6 embryo biopsies...
June 13, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29898906/-designer-babies-almost-thirty-years-on
#4
Alan H Handyside
The first pregnancies and live births following IVF and preimplantation genetic testing (PGT), formerly known as preimplantation genetic diagnosis (PGD), were reported in 1990, almost 30 years ago, in several couples at risk of X-linked inherited conditions, which typically only affect boys inheriting the X chromosome with the affected gene from their carrier mothers. At that time, it was only possible to identify the sex of the embryo by amplifying a Y-linked repeat sequence in single cells biopsied at cleavage stages and avoid the transfer of males, half of which would be affected...
June 13, 2018: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/29883421/influence-of-maternal-aging-on-mitochondrial-heterogeneity-inheritance-and-function-in-oocytes-and-preimplantation-embryos
#5
REVIEW
Dori C Woods, Konstantin Khrapko, Jonathan L Tilly
Contrasting the equal contribution of nuclear genetic material from maternal and paternal sources to offspring, passage of mitochondria, and thus mitochondrial DNA (mtDNA), is uniparental through the egg. Since mitochondria in eggs are ancestral to all somatic mitochondria of the next generation and to all cells of future generations, oocytes must prepare for the high energetic demands of maturation, fertilization and embryogenesis while simultaneously ensuring that their mitochondrial genomes are inherited in an undamaged state...
May 21, 2018: Genes
https://www.readbyqxmd.com/read/29873092/abnormal-gene-methylation-during-embryonic-development-after-preimplantation-genetic-testing-increases-risk-of-liver-derived-insulin-resistance
#6
Mei Mei Zheng, Hua Rong Cao, Wu Yue Zhang, Pei Pei Yan, Jing Yi Xu, Heng Li Zhao, Feng Zhu, Jing Jing Zhang, Yan Li, Hui Zhu
The operations involved in preimplantation genetic testing (PGT) occur during the key stages of gametogenesis and early embryonic development, and the health of progeny following PGT (PGT-born) is worthy of attention. In order to fully assess the potential risk of abnormal glucose metabolism in adult PGT-born offspring and to evaluate possible mechanisms, we compared a mouse model of PGT (in vitro cultured embryos with biopsy, hereafter "PTG-born mice"), an in vitro embryo manipulation mouse model (in vitro cultured embryos without biopsy), and normal mice...
June 5, 2018: Annals of the New York Academy of Sciences
https://www.readbyqxmd.com/read/29868108/detecting-agg-interruptions-in-females-with-a-fmr1-premutation-by-long-read-single-molecule-sequencing-a-1-year-clinical-experience
#7
Simon Ardui, Valerie Race, Thomy de Ravel, Hilde Van Esch, Koenraad Devriendt, Gert Matthijs, Joris R Vermeesch
The fragile X syndrome arises from the FMR1 CGG expansion of a premutation (55-200 repeats) to a full mutation allele (>200 repeats) and is the most frequent cause of inherited X-linked intellectual disability. The risk for a premutation to expand to a full mutation allele depends on the repeat length and AGG triplets interrupting this repeat. In genetic counseling it is important to have information on both these parameters to provide an accurate risk estimate to women carrying a premutation allele and weighing up having children...
2018: Frontiers in Genetics
https://www.readbyqxmd.com/read/29858758/uptake-of-preimplantation-genetic-diagnosis-in-female-brca1-and-brca2-mutation-carriers
#8
Pnina Mor, Sarah Brennenstuhl, Kelly A Metcalfe
Women with a germline pathogenic variant in the BReast CAncer susceptibility genes (BRCA1 or BRCA2) have an increased risk of early-onset breast and ovarian cancer. In addition to weighing cancer screening and risk-reduction options, healthy BRCA mutation carriers of childbearing age may choose to preclude passing the mutation to the next generation. In the current study, we report on preimplantation genetic diagnosis (PGD) practices in BRCA-positive Israeli women who were offered PGD at no cost. METHODS: we measured PGD uptake, decision satisfaction or regret, and predictors of uptake...
June 1, 2018: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/29804404/-homozygous-5t-alleles-clinical-presentation-and-genetic-analysis-within-a-family-with-congenital-bilateral-absence-of-the-vas-deferens
#9
J R Feng, Y N Zhang, X Wu, X J Yang, S T Chen, G C Ma, S G Luo, Y Zhang
Objective: To study the cystic fibrosis transmembrane regulator(CFTR) genotypes and genetic characteristics of a Chinese family with Congenital bilateral absence of vas deferens(CBAVD). Methods: Two 33/29-years-old brothers presented with CBAVD-caused obstructive azoospermia were diagnosed on the basis of scrotal palpation, analysis of semen and ultrasound tests. We extracted their genomic DNA as well as their healthy parents' from the peripheral blood leukocytes. To identify CFTR mutations, each of the 27 exons of the CFTR gene and their flanking splice sites sequences were amplified by polymerase chain reaction(PCR) and subsequently studied with Sanger sequencing...
May 15, 2018: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29799617/preimplantation-genetic-testing-of-robertsonian-translocation-by-snp-array-based-preimplantation-genetic-haplotyping
#10
Jing Wang, Yanhong Zeng, Chenhui Ding, Bin Cai, Baomin Lu, Rong Li, Yan Xu, Yanwen Xu, Canquan Zhou
OBJECTIVES: The present study attempted to confirm a method that distinguishes a balanced Robertsonian translocation carrier embryo from a truly normal embryo in parallel with comprehensive chromosome screening (CCS). METHODS: Comprehensive chromosome screening was performed in 107 embryos from 11 couples carrying Robertsonian translocations. Among them, embryos from 2 families had been transferred before the diagnosis of translocation, which resulted in successful pregnancies; embryos from the remaining families were transferred after the identification of translocations...
May 25, 2018: Prenatal Diagnosis
https://www.readbyqxmd.com/read/29798732/transition-from-blastomere-to-trophectoderm-biopsy-comparing-two-preimplantation-genetic-testing-for-aneuploidies-strategies
#11
Lluc Coll, Mònica Parriego, Montserrat Boada, Marta Devesa, Gemma Arroyo, Ignacio Rodríguez, Bonaventura Coroleu, Francesca Vidal, Anna Veiga
SummaryShortly after the implementation of comprehensive chromosome screening (CCS) techniques for preimplantation genetic testing for aneuploidies (PGT-A), the discussion about the transition from day 3 to blastocyst stage biopsy was initiated. Trophectoderm biopsy with CCS is meant to overcome the limitations of cleavage-stage biopsy and single-cell analysis. The aim of this study was to assess the results obtained in our PGT-A programme after the implementation of this new strategy. Comparisons between the results obtained in 179 PGT-A cycles with day 3 biopsy (D+3) and fresh embryo transfer, and 204 cycles with trophectoderm biopsy and deferred (frozen-thawed) embryo transfer were established...
May 25, 2018: Zygote: the Biology of Gametes and Early Embryos
https://www.readbyqxmd.com/read/29796631/chromosomal-mosaicism-in-human-blastocysts-the-ultimate-challenge-of-preimplantation-genetic-testing
#12
M Popovic, A Dheedene, C Christodoulou, J Taelman, L Dhaenens, F Van Nieuwerburgh, D Deforce, E Van den Abbeel, P De Sutter, B Menten, B Heindryckx
STUDY QUESTION: To what extent does a trophectoderm (TE) biopsy reliably reflect the chromosomal constitution of the inner cell mass (ICM) in human blastocysts? SUMMARY ANSWER: Concordance between TE and ICM was established in 62.1% of the embryos analysed. WHAT IS KNOWN ALREADY: Next generation sequencing (NGS) platforms have recently been optimised for preimplantation genetic testing for aneuploidies (PGT-A). However, higher sensitivity has led to an increase in reports of chromosomal mosaicism within a single TE biopsy...
May 23, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29790071/impact-of-polar-body-biopsy-on-embryo-morphokinetics-back-to-the-roots-in-preimplantation-genetic-testing
#13
Michael Schenk, Andrea Groselj-Strele, Katharina Eberhard, Elisabeth Feldmeier, Darja Kastelic, Stefanie Cerk, Gregor Weiss
PURPOSE: Polar body biopsy (PBB) is a common technique in preimplantation genetic testing (PGT) to assess the chromosomal status of the oocyte. Numerous studies have been implemented to investigate the impact of biopsies on embryo development; however, information on embryo morphokinetics is still lacking. Hence, we investigated the impact of PBB on morphokinetic parameters in early embryo development. METHODS: Four hundred four embryos (202 PBB, 202 control) were retrospectively analyzed...
May 22, 2018: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/29788175/prevalence-of-xxy-karyotypes-in-human-blastocysts-multicentre-data-from-7549-trophectoderm-biopsies-obtained-during-preimplantation-genetic-testing-cycles-in-ivf
#14
Rossella Mazzilli, Danilo Cimadomo, Laura Rienzi, Antonio Capalbo, Paolo Emanuele Levi Setti, Claudia Livi, Damiano Vizziello, Carlo Foresta, Alberto Ferlin, Filippo Maria Ubaldi
STUDY QUESTION: Which is the prevalence of a 47,XXY karyotype in human blastocysts biopsied during preimplantation genetic testing for aneuploidies (PGT-A) cycles? SUMMARY ANSWER: The prevalence of a 47,XXY karyotype amongst male blastocysts without autosomal aneuploides is ~1%. WHAT IS KNOWN ALREADY: The prevalence of Klinefelter syndrome is estimated as 0.1-0.2% in male newborns. However, the KS phenotype is extremely variable and there are men with a 47,XXY karyotype and less evident signs, who may go undetected...
May 19, 2018: Human Reproduction
https://www.readbyqxmd.com/read/29781739/preimplantation-genetic-diagnosis-as-a-strategy-to-prevent-having-a-child-born-with-an-heritable-eye-disease
#15
Claudia Yahalom, Michal Macarov, Galit Lazer-Derbeko, Gheona Altarescu, Tal Imbar, Jordana H Hyman, Talia Eldar-Geva, Anat Blumenfeld
BACKGROUND: In developed countries, genetically inherited eye diseases are responsible for a high percentage of childhood visual impairment. We aim to report our experience using preimplantation genetic diagnostics (PGD) in order to avoid transmitting a genetic form of eye disease associated with childhood visual impairment and ocular cancer. MATERIAL AND METHODS: Retrospective case series of women who underwent in vitro fertilization (IVF) and PGD due to a familial history of inherited eye disease and/or ocular cancer, in order to avoid having a child affected with the known familial disease...
May 21, 2018: Ophthalmic Genetics
https://www.readbyqxmd.com/read/29778385/frequencies-of-chromosome-specific-mosaicisms-in-trophoectoderm-biopsies-detected-by-next-generation-sequencing
#16
Gary Nakhuda, Chen Jing, Rachel Butler, Colleen Guimond, Jason Hitkari, Elizabeth Taylor, Niamh Tallon, Albert Yuzpe
OBJECTIVE: To examine the chromosome-specific frequencies of mosaicism detected by next-generation sequencing (NGS) compared with constitutional aneuploidy. DESIGN: Retrospective cross-sectional review of NGS results from trophectoderm biopsies analyzed by per-chromosome prevalence of mosaicism and constitutional aneuploidy. SETTING: Private fertility clinic. PATIENT(S): A total of 378 patients who underwent preimplantation genetic screening by NGS for routine clinical indications from February 2016 to April 2017...
May 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29768947/linking-back-to-back-stimulation-cycles-with-oral-contraceptives-or-progestins-in-women-undergoing-embryo-accumulation-for-preimplantation-genetic-testing-a-retrospective-study
#17
Jorge Rodriguez-Purata, Marta Devesa, Mónica Parriego, Clara Pardos, Ignacio Rodriguez, Nikolaos P Polyzos, Francisca Martínez, Buenaventura Coroleu
This retrospective study was carried out to determine which strategy is associated with improved outcomes in two back-to-back cycles when undergoing embryo accumulation. Eighty patients with two stimulation cycles performed with <45 days between retrievals between Jan'16-Mar'17 were included. Patients were segregated according to the strategy used to link stimulations: spontaneous menses (SM), vaginal micronized progesterone (VMP) or oral contraceptive pills (OCP). Main outcome measure was oocytes retrieved...
May 17, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29764212/the-clinical-application-of-single-sperm-based-snp-haplotyping-for-pgd-of-osteogenesis-imperfecta
#18
Linjun Chen, Zhenyu Diao, Zhipeng Xu, Jianjun Zhou, Guijun Yan, Haixiang Sun
Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD). Polymorphic markers linked to the mutated genes have been used to establish haplotypes for identifying ADO and ensuring the accuracy of PGD...
May 15, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29746572/evaluation-of-a-novel-non-invasive-preimplantation-genetic-screening-approach
#19
Valeriy Kuznyetsov, Svetlana Madjunkova, Ran Antes, Rina Abramov, Gelareh Motamedi, Zenon Ibarrientos, Clifford Librach
OBJECTIVE: To assess whether embryonic DNA isolated from blastocyst culture conditioned medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non-invasive preimplantation genetic testing for chromosomal aneuploidy (non-invasive preimplantation genetic screening, NIPGS). PATIENTS: 47 embryos from 35 patients undergoing IVF. INTERVENTIONS: DNA analysis of combined BCCM plus BF in comparison with trophectoderm (TE) biopsy and/or whole blastocyst (WB)using next generation sequencing (NGS)...
2018: PloS One
https://www.readbyqxmd.com/read/29741247/prenatal-and-preimplantation-diagnosis-of-hemoglobinopathies
#20
REVIEW
C Vrettou, G Kakourou, T Mamas, J Traeger-Synodinos
The hemoglobinopathies, as a group, are one of the most common serious monogenic diseases in the world. An accepted and widely adopted approach to reduce the number of new cases involves carrier-screening programs, with the option of prenatal diagnosis (PND) or preimplantation diagnosis (preimplantation genetic testing for monogenic disease, PGT-M) for carrier couples. The aim of PND is to provide an accurate result as early in pregnancy as possible, which necessitates prior identification of the parental disease-causing mutations, as well as safe and timely biopsy of fetal material...
May 2018: International Journal of Laboratory Hematology
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