keyword
MENU ▼
Read by QxMD icon Read
search

Preimplantation genetic

keyword
https://www.readbyqxmd.com/read/28815718/a-potential-high-risk-for-fatty-liver-disease-was-found-in-mice-generated-after-assisted-reproductive-techniques
#1
Gu Ll, Zhang Jj, Zheng Mm, Dong Gy, Xu Jy, Zhang Wy, Yibo Wu, Yang Yang, Zhu H
Abnormal gametogenesis and embryonic development may lead to poor health status of the offspring. The operations involved in the assisted reproductive technologies (ARTs) occur during the key stage of gametogenesis and early embryonic development. To assess the potential risk of abnormal lipid metabolism in the liver of adult ARTs offspring, two ARTs mice models derived from preimplantation genetic diagnosis (PGD group) and in vitro cultured embryos without biopsy (IVEM group) were constructed. And control mice were from in vivo naturally conceived (Normal group)...
August 16, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28797703/preimplantation-genetic-diagnosis-of-x-linked-charcot-marie-tooth-disease-by-indirect-linkage-analysis
#2
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/28783728/correction-of-a-pathogenic-gene-mutation-in-human-embryos
#3
Hong Ma, Nuria Marti-Gutierrez, Sang-Wook Park, Jun Wu, Yeonmi Lee, Keiichiro Suzuki, Amy Koski, Dongmei Ji, Tomonari Hayama, Riffat Ahmed, Hayley Darby, Crystal Van Dyken, Ying Li, Eunju Kang, A-Reum Park, Daesik Kim, Sang-Tae Kim, Jianhui Gong, Ying Gu, Xun Xu, David Battaglia, Sacha A Krieg, David M Lee, Diana H Wu, Don P Wolf, Stephen B Heitner, Juan Carlos Izpisua Belmonte, Paula Amato, Jin-Soo Kim, Sanjiv Kaul, Shoukhrat Mitalipov
Genome editing has potential for the targeted correction of germline mutations. Here we describe the correction of the heterozygous MYBPC3 mutation in human preimplantation embryos with precise CRISPR-Cas9-based targeting accuracy and high homology-directed repair efficiency by activating an endogenous, germline-specific DNA repair response. Induced double-strand breaks (DSBs) at the mutant paternal allele were predominantly repaired using the homologous wild-type maternal gene instead of a synthetic DNA template...
August 2, 2017: Nature
https://www.readbyqxmd.com/read/28756497/natural-selection-between-day-3-and-day-5-6-pgd-embryos-in-couples-with-reciprocal-or-robertsonian-translocations
#4
Claire E Beyer, E Willats
PURPOSE: For translocation carriers, preimplantation genetic diagnosis (PGD) provides the opportunity to distinguish between normal/balanced and unbalanced embryos prior to implantation and, as such, increases the likelihood of a successful ongoing pregnancy. The data presented here compares autosomal reciprocal and Robertsonian translocation segregation patterns in day 3 versus day 5/6 IVF-PGD embryos to determine if there is a difference in the chromosome segregation patterns observed at these developmental time points...
July 29, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28748493/cost-effectiveness-of-preimplantation-genetic-screening-for-women-older-than-37-undergoing-in-vitro-fertilization
#5
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
#6
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...
July 25, 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
#7
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
#8
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/28733345/genes-of-cellular-components-of-morphogenesis-in-porcine-oocytes-before-and-after-ivm
#9
Joanna Budna, Artur Bryja, Piotr Celichowski, Rotem Kahan, Wiesława Kranc, Sylwia Ciesiółka, Marta Rybska, Sylwia Borys, Michal Jeseta, Dorota Bukowska, Paweł Antosik, Klaus Peter Brüssow, Małgorzata Bruska, Michał Nowicki, Maciej Zabel, Bartosz Kempisty
Proper oocyte maturation in mammals produces an oocyte capable of monospermic fertilization and embryo preimplantation. The cumulus-oocyte complexes (COCs), surrounding an oocyte, play a significant role in oocyte maturation. During this process, when the COCs undergo cumulus expansion wherein tightly compact cumulus cells (CCs) form a dispersed structure, permanent biochemical and molecular modifications occur in the maturing oocytes, indicating the gene expression between immature and mature oocytes differs significantly...
July 21, 2017: Reproduction: the Official Journal of the Society for the Study of Fertility
https://www.readbyqxmd.com/read/28725950/genome-editing-and-assisted-reproduction-curing-embryos-society-or-prospective-parents
#10
Giulia Cavaliere
This paper explores the ethics of introducing genome-editing technologies as a new reproductive option. In particular, it focuses on whether genome editing can be considered a morally valuable alternative to preimplantation genetic diagnosis (PGD). Two arguments against the use of genome editing in reproduction are analysed, namely safety concerns and germline modification. These arguments are then contrasted with arguments in favour of genome editing, in particular with the argument of the child's welfare and the argument of parental reproductive autonomy...
July 19, 2017: Medicine, Health Care, and Philosophy
https://www.readbyqxmd.com/read/28720156/fmr1-cgg-repeat-expansion-mutation-detection-and-linked-haplotype-analysis-for-reliable-and-accurate-preimplantation-genetic-diagnosis-of-fragile-x-syndrome
#11
Indhu-Shree Rajan-Babu, Mulias Lian, Felicia S H Cheah, Min Chen, Arnold S C Tan, Ethiraj B Prasath, Seong Feei Loh, Samuel S Chong
Fragile X mental retardation 1 (FMR1) full-mutation expansion causes fragile X syndrome. Trans-generational fragile X syndrome transmission can be avoided by preimplantation genetic diagnosis (PGD). We describe a robust PGD strategy that can be applied to virtually any couple at risk of transmitting fragile X syndrome. This novel strategy utilises whole-genome amplification, followed by triplet-primed polymerase chain reaction (TP-PCR) for robust detection of expanded FMR1 alleles, in parallel with linked multi-marker haplotype analysis of 13 highly polymorphic microsatellite markers located within 1 Mb of the FMR1 CGG repeat, and the AMELX/Y dimorphism for gender identification...
July 19, 2017: Expert Reviews in Molecular Medicine
https://www.readbyqxmd.com/read/28717645/whole-genome-amplification-of-day-3-or-day-5-human-embryos-biopsies-provides-a-suitable-dna-template-for-pcr-based-techniques-for-genotyping-a-complement-of-preimplantation-genetic-testing
#12
Elizabeth Schaeffer, Bruno López-Bayghen, Adina Neumann, Leonardo M Porchia, Rafael Camacho, Efraín Garrido, Rocío Gómez, Felipe Camargo, Esther López-Bayghen
Our objective was to determine if whole genome amplification (WGA) provides suitable DNA for qPCR-based genotyping for human embryos. Single blastomeres (Day 3) or trophoblastic cells (Day 5) were isolated from 342 embryos for WGA. Comparative Genomic Hybridization determined embryo sex as well as Trisomy 18 or Trisomy 21. To determine the embryo's sex, qPCR melting curve analysis for SRY and DYS14 was used. Logistic regression indicated a 4.4%, 57.1%, or 98.8% probability of a male embryo when neither gene, SRY only, or both genes were detected, respectively (accuracy = 94...
2017: BioMed Research International
https://www.readbyqxmd.com/read/28697911/preimplantation-genetic-screening-what-is-the-clinical-efficiency
#13
EDITORIAL
Richard J Paulson
No abstract text is available yet for this article.
July 8, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28696086/pregnancy-after-breast-cancer-hope-after-the-storm
#14
Valeria DE Simone, Olivia Pagani
INTRODUCTION: In the last decades, long-term outcomes of young women with breast cancer have greatly improved, raising several new survivorship needs which include fertility preservation and pregnancy. The prejudice against pregnancy after breast cancer is still alive among different healthcare providers (e.g. gynecologists, oncologists, general practitioners) and women are often confused and left alone in their family decision planning. EVIDENCE ACQUISITION AND SYNTHESIS: All the available retrospective data confirm pregnancy after breast cancer is safe both for the mother and the offspring, also in women with hormone receptor positive disease...
July 10, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/28687208/assisted-reproduction-techniques-in-latin-america-the-latin-american-registry-2014
#15
Fernando Zegers-Hochschild, Juan Enrique Schwarze, Javier Crosby, Carolina Musri, Maria Teresa Urbina
Multinational data on assisted reproduction techniques (IVF and intractytoplasmic sperm injection [ICSI], frozen embryo transfer, oocyte donation, preimplantation genetic diagnosis and fertility preservation) were collected from 159 institutions in 15 Latin American countries. A total of 41.34% of IVF-ICSI cycles were conducted in women aged 35-39 years and 23.35% in women aged 40 years and older. After removing freeze-all cases, delivery rate per oocyte retrieval was 25.05% for ICSI and 27.41% for IVF. Multiple births included 20...
September 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/28682646/embryo-pooling-a-promising-strategy-for-managing-insufficient-number-of-embryos-in-preimplantation-genetic-diagnosis
#16
Xiaokun Hu, Chenhui Ding, Duoduo Zhang, Wen Zhou, Jing Wang, Yanhong Zeng, Jie Lv, Yan-Wen Xu, Can-Quan Zhou
This retrospective study evaluated the embryo pooling strategy for managing insufficient number of embryos in preimplantation genetic diagnosis (PGD) through serial vitrification of cleavage-stage embryos from consecutive cycles, and simultaneous blastocysts biopsy in combination with blastocysts obtained in ultimate fresh cycle. A retrospective analysis of the cumulative pregnancy rate of 68 patients underwent cleavage-stage embryos accumulation (Embryo Pooling Group) and 94 patients underwent one stimulation cycle (Control Group) over a 2-year period were conducted...
July 6, 2017: Gynecological Endocrinology
https://www.readbyqxmd.com/read/28676969/genetic-study-of-the-pah-locus-in-the-iranian-population-familial-gene-mutations-and-minihaplotypes
#17
Masoumeh Razipour, Elaheh Alavinejad, Seyede Zahra Sajedi, Saeed Talebi, Mona Entezam, Neda Mohajer, Golnaz-Ensieh Kazemi-Sefat, Jalal Gharesouran, Aria Setoodeh, Seyyed Mojtaba Mohaddes Ardebili, Mohammad Keramatipour
Phenylketonuria (PKU), one of the most common inborn errors of amino acid metabolism, is caused by mutations in the phenylalanine hydroxylase (PAH) gene (PAH). PKU has wide allelic heterogeneity, and over 600 different disease-causing mutations in PAH have been detected to date. Up to now, there have been no reports on the minihaplotype (VNTR/STR) analysis of PAH locus in the Iranian population. The aims of the present study were to determine PAH mutations and minihaplotypes in Iranian families with PAH deficiency and to investigate the correlation between them...
July 4, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28676910/morphokinetic-parameters-from-a-time-lapse-monitoring-system-cannot-accurately-predict-the-ploidy-of-embryos
#18
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
https://www.readbyqxmd.com/read/28668821/preimplantation-genetic-diagnosis-for-mitochondrial-dna-mutations-analysis-of-one-blastomere-suffices
#19
Suzanne C E H Sallevelt, Joseph C F M Dreesen, Edith Coonen, Aimee D C Paulussen, Debby M E I Hellebrekers, Christine E M de Die-Smulders, Hubert J M Smeets, Patrick Lindsey
BACKGROUND: Preimplantation genetic diagnosis (PGD) is a reproductive strategy for mitochondrial DNA (mtDNA) mutation carriers, strongly reducing their risk of affected offspring. Embryos either without the mutation or with mutation load below the phenotypic threshold are transferred to the uterus. Because of incidental heteroplasmy deviations in single blastomere and the relatively limited data available, we so far preferred relying on two blastomeres rather than one. Considering the negative effect of a two-blastomere biopsy protocol compared with a single-blastomere biopsy protocol on live birth delivery rate, we re-evaluated the error rate in our current dataset...
July 1, 2017: Journal of Medical Genetics
https://www.readbyqxmd.com/read/28666459/towards-a-better-understanding-of-preimplantation-genetic-screening-for-aneuploidy-insights-from-a-virtual-trial-for-women-under-the-age-of-40-when-transferring-embryos-one-at-a-time
#20
Paul N Scriven
BACKGROUND: The aim of this theoretical study is to explore the cost-effectiveness of aneuploidy screening in a UK setting for every woman aged under the age of 40 years when fresh and vitrified-warmed embryos are transferred one at a time in a first full cycle of assisted conception. METHODS: It is envisaged that a 24-chromosome genetic test for aneuploidy could be used to exclude embryos with an abnormal test result from transfer, or used only to rank embryos with the highest potential to be viable; the effect on cumulative outcome is assessed...
June 30, 2017: Reproductive Biology and Endocrinology: RB&E
keyword
keyword
44538
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"