keyword
MENU ▼
Read by QxMD icon Read
search

Preimplantation genetic diagnosis

keyword
https://www.readbyqxmd.com/read/29129123/opinions-of-nurses-regarding-conscientious-objection
#1
Rafael Toro-Flores, Pilar Bravo-Agüi, María Victoria Catalán-Gómez, Marisa González-Hernando, María Jesús Guijarro-Cenisergue, Margarita Moreno-Vázquez, Isabel Roch-Hamelin, Tamara Raquel Velasco-Sanz
BACKGROUND: In the last decades, there have been important developments in the scientific and technological areas of healthcare. On certain occasions this provokes conflict between the patients' rights and the values of healthcare professionals which brings about, within this clinical relationship, the problem of conscientious objection. AIMS: To learn the opinions that the Nurses of the Madrid Autonomous Community have regarding conscientious objection. RESEARCH DESIGN: Cross-cutting descriptive study...
January 1, 2017: Nursing Ethics
https://www.readbyqxmd.com/read/29126206/the-incidence-and-origin-of-segmental-aneuploidy-in-human-oocytes-and-preimplantation-embryos
#2
D Babariya, E Fragouli, S Alfarawati, K Spath, D Wells
STUDY QUESTION: What is the incidence, origin and clinical significance of segmental aneuploidy in human oocytes and preimplantation embryos? SUMMARY ANSWER: Segmental aneuploidy occurs at a considerable frequency in preimplantation embryos with a majority being mitotic in origin. WHAT IS KNOWN ALREADY: In recent years, accurate techniques for the detection of aneuploidy in single cells have been developed. Research using such methods has confirmed that aneuploidy is a common feature of human oocytes and preimplantation embryos...
November 8, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29120067/review-of-patient-decision-making-factors-and-attitudes-regarding-preimplantation-genetic-diagnosis
#3
REVIEW
Margaux C Genoff Garzon, Lisa R Rubin, Marci Lobel, James Stelling, Lisa M Pastore
The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision-making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD...
November 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29111206/functional-mutant-gata4-identification-and-potential-application-in-preimplantation-diagnosis-of-congenital-heart-diseases
#4
REVIEW
You Yu, Wei Lei, Junjie Yang, Yan-Chang Wei, Zhen-Ling Zhao, Zhen-Ao Zhao, Shijun Hu
Congenital heart diseases (CHDs) affect nearly 1% of all neonates and show an increasing tendency. The complex inheritance patterns and multifactorial etiologies make these defects difficult to be identified before complete manifestation. Genetic screening has identified hundreds of specific mutant sites for CHDs based on cardiac transcriptional factors. GATA4 is a master regulator required for ventral morphogenesis and heart tube formation. Its mutation is most widely studied in CHDs. In the past decades, over 100 GATA4 mutant sites have been reported, but only a few functional sites have been identified...
October 27, 2017: Gene
https://www.readbyqxmd.com/read/29100625/impact-of-multiple-blastocyst-biopsy-and-vitrification-warming-procedures-on-pregnancy-outcomes
#5
Cara K Bradley, Mark Livingstone, Maria V Traversa, Steven J McArthur
OBJECTIVE: To assess the impact of multiple blastocyst biopsy and vitrification-warming procedures on clinical outcomes. DESIGN: Retrospective study. SETTING: Private fertility clinic. PATIENT(S): Preimplantation genetic diagnosis (PGD) patients undergoing comprehensive chromosome screening, including monogenic disorder and chromosome rearrangement cases. INTERVENTION(S): Warming and transfer of euploid blastocysts biopsied and vitrified-warmed once (group 1 [G1, control]; n = 2,130), biopsied once but vitrified-warmed twice (group 2 [G2]; n = 34), or biopsied and vitrified-warmed twice (group 3 [G3]; n = 29)...
October 31, 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/29079197/clinical-outcomes-after-preimplantation-genetic-diagnosis-of-patients-with-corino-de-andrade-disease-familial-amyloid-polyneuropathy
#6
Rita Lopes, Mário Sousa, Joaquina Silva, Mariana Cunha, Cristiano Oliveira, José Teixeira da Silva, Luís Ferraz, Teresa Coelho, Filipa Carvalho, Alberto Barros
The aim of this study was to determine whether patients with transthyretin-related hereditary amyloidosis (V30M), after transplantation or under tafamidis treatment, have normal gamete reproductive capacity. A retrospective analysis was carried out of all preimplantation genetic diagnosis (PGD) cycles performed in patients with the V30M mutation. The groups analysed were: total cases with V30M, female cases with V30M and male cases with V30M. Detailed demographic, stimulation, embryological, clinical and newborn outcomes were evaluated...
October 12, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29041973/the-establishment-and-application-of-preimplantation-genetic-haplotyping-in-embryo-diagnosis-for-reciprocal-and-robertsonian-translocation-carriers
#7
Shuo Zhang, Caixia Lei, Junping Wu, Jing Zhou, Haiyan Sun, Jing Fu, Yijuan Sun, Xiaoxi Sun, Daru Lu, Yueping Zhang
BACKGROUND: Preimplantation genetic diagnosis (PGD) is now widely used to select embryos free of chromosomal copy number variations (CNV) from chromosome balanced translocation carriers. However, it remains a difficulty to distinguish in embryos between balanced and structurally normal chromosomes efficiently. METHODS: For this purpose, genome wide preimplantation genetic haplotyping (PGH) analysis was utilized based on single nucleotide polymorphism (SNP) microarray...
October 17, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/29039173/-effects-of-embryo-cryopreservation-and-thawing-on-clinical-outcomes-of-transplantable-embryos-after-cleavage-stage-preimplantation-genetic-diagnosis-or-screening
#8
Biwei Shi, Long Cui, Xiaoqun Ye, Yinghui Ye
OBJECTIVE: To investigate the effects of embryo cryopreservation and thawing on clinical outcomes of transplantable embryos after preimplantation genetic diagnosis (PGD) or preimplantation genetic screening (PGS) in cleavage-stage. METHODS: The clinical data of 302 cases (including 118 cases using frozen/thawing embryos and 184 cases using fresh embryos) undergoing PGD/PGS in Women's Hospital, Zhejiang University School of Medicine during January 2011 and December 2016 were retrospectively analyzed...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29039162/-advances-on-prenatal-diagnosis-of-birth-defects-associated-with-genetic-disorders
#9
Kai Yan, Fan Jin
Birth defects have become a major public health concern in the world, which can be resulted from the harmful environmental factors, genetic mutations or their co-effects. Prenatal diagnosis or preimplantation diagnosis has been considered as the only effective way for the prevention of the birth of those defects. Besides karyotype analysis and fluorescence in situ hybridization, chromosomal microarray analysis and next generation sequencing or its derivatives are in common use. This article reviews the advances of the newly emerging molecular techniques in prenatal diagnosis of birth defects associated with genetic disorders...
May 25, 2017: Zhejiang da Xue Xue Bao. Yi Xue Ban, Journal of Zhejiang University. Medical Sciences
https://www.readbyqxmd.com/read/29037841/first-report-on-an-x-linked-hypohidrotic-ectodermal-dysplasia-family-with-x-chromosome-inversion-breakpoint-mapping-reveals-the-pathogenic-mechanism-and-preimplantation-genetics-diagnosis-achieves-an-unaffected-birth
#10
Tonghua Wu, Biao Yin, Yuanchang Zhu, Guangui Li, Lijun Ye, Desheng Liang, Yong Zeng
BACKGROUND: To investigate the etiology of X-linked hypohidrotic ectodermal dysplasia (XLHED) in a family with an inversion of the X chromosome [inv(X)(p21q13)] and to achieve a healthy birth following preimplantation genetic diagnosis (PGD). METHODS: Next generation sequencing (NGS) and Sanger sequencing analysis were carried out to define the inversion breakpoint. Multiple displacement amplification, amplification of breakpoint junction fragments, Sanger sequencing of exon 1 of ED1, haplotyping of informative short tandem repeat markers and gender determination were performed for PGD...
October 14, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29026418/heterozygosity-analysis-of-polycystic-kidney-disease-1-gene-microsatellite-markers-for-linkage-analysis-of-autosomal-dominant-polycystic-kidney-disease-type-1-in-the-iranian-population
#11
Razieh Fatehi, Sharifeh Khosravi, Maryam Abedi, Rasoul Salehi, Yousof Gheisari
BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common genetic cause of end-stage renal disease. Although imaging techniques are a means of accurate diagnosis when the cysts appear in the third or fourth decades of the patient's life, they are of little value for early diagnosis. Genetic tests are required for preimplantation genetic diagnosis, decision-making for kidney donation to an affected relative. Although mutation of the polycystic kidney disease (PKD1) gene is solely responsible for the most cases of ADPKD, direct genetic testing is limited by the large size of this gene and the presence of many mutations without hot spots...
2017: Journal of Research in Medical Sciences: the Official Journal of Isfahan University of Medical Sciences
https://www.readbyqxmd.com/read/29020788/-complete-molar-pregancy-with-development-of-non-metastatic-persistent-trophoblastic-diseasea-case-report-reflection-of-rules-of-care-and-decision-making-processes-forensic-responsibility-and-the-position-of-doctor-in-the-general-gynecologic-and-obstetric-outpatient
#12
S Zeman, P Trávník, K Dvořáková, J Zemanová
OBJECTIVE: To define the forensic responsibility and the position of doctor in the general gynecologic and obstetric outpatient practice in care of the complete molar pregancy. DESIGN: Case report and review article. SETTING: General gynecologic and obstetric outpatient practice Velké Meziříčí; Sanatorium REPROMEDA, Centre of reproductive medicine and preimplantation genetics, Brno; Histopatology department of Hospital Jihlava. CASE REPORT: The changing clinical presentation of complete molar pregnancy with development of non-metastatic gestational trophoblastic disease: management...
2017: Ceská Gynekologie
https://www.readbyqxmd.com/read/28978073/presence-of-embryonic-dna-in-culture-medium
#13
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...
September 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28959787/comparative-preimplantation-genetic-diagnosis-policy-in-europe-and-the-usa-and-its-implications-for-reproductive-tourism
#14
Michelle J Bayefsky
Unlike many European nations, the USA has no regulations concerning the use of preimplantation genetic diagnosis (PGD), a technique employed during some fertility treatments to select embryos based on their genes. As such, PGD can and is used for a variety of controversial purposes, including sex selection, selection for children with disabilities such as deafness, and selection for 'saviour siblings' who can serve as tissue donors for sick relatives. The lack of regulation, which is due to particular features of the US political and economic landscape, has ethical and practical implications for patients seeking PGD around the world...
December 2016: Reproductive Biomedicine & Society Online
https://www.readbyqxmd.com/read/28954035/preimplantation-genetic-diagnosis-associated-to-duchenne-muscular-dystrophy
#15
Bianca Bianco, Denise Maria Christofolini, Gabriel Seixas Conceição, Caio Parente Barbosa
Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such boys. We report a case of preimplantation genetic diagnosis associated with Duchenne muscular dystrophy. The couple E.P.R., 38-year-old, symptomatic patient heterozygous for a 2 to 47 exon deletion mutation in DMD gene and G...
September 21, 2017: Einstein
https://www.readbyqxmd.com/read/28947109/preimplantation-genetics-and-other-reproductive-options-in-huntington-disease
#16
Jan K Blancato, Erin Wolfe, Preston C Sacks
Preimplantation genetic diagnosis (PGD) is a form of prenatal diagnosis applied to potential parents with known carrier status of a genetic disease, such as Huntington disease. It employs the use of polymerase chain reaction to amplify single cells from early embryos obtained with in vitro fertilization (IVF) techniques. PGD allows the couple the chance to have a pregnancy and livebirth child without Huntington disease, although there are some risks and expenses related to the procedures. Success of the procedure may be greater than standard IVF because the patients are not infertility patients, but are undergoing the procedure to avoid passing a highly deleterious disease gene to offspring...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28921562/a-novel-approach-using-long-read-sequencing-and-ddpcr-to-investigate-gonadal-mosaicism-and-estimate-recurrence-risk-in-two-families-with-developmental-disorders
#17
Maria Wilbe, Sanna Gudmundsson, Josefin Johansson, Adam Ameur, Eva-Lena Stattin, Göran Annerén, Helena Malmgren, Carina Frykholm, Marie-Louise Bondeson
OBJECTIVE: De novo mutations contribute significantly to severe early-onset genetic disorders. Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ line mosaicism, depending on in which gonadal generation the mutation occurred. METHODS: We demonstrate the power of using SMRT sequencing and ddPCR to determine parental origin and allele frequencies of de novo mutations in germ cells in two families whom had undergone assisted reproduction...
September 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28921398/preliminary-analysis-of-numerical-chromosome-abnormalities-in-reciprocal-and-robertsonian-translocation-preimplantation-genetic-diagnosis-cases-with-24-chromosomal-analysis-with-an-acgh-snp-microarray
#18
Yanxin Xie, Yanwen Xu, Jing Wang, Benyu Miao, Yanhong Zeng, Chenhui Ding, Jun Gao, Canquan Zhou
PURPOSE: The aim of this study was to determine whether an interchromosomal effect (ICE) occurred in embryos obtained from reciprocal translocation (rcp) and Robertsonian translocation (RT) carriers who were following a preimplantation genetic diagnosis (PGD) with whole chromosome screening with an aCGH and SNP microarray. We also analyzed the chromosomal numerical abnormalities in embryos with aneuploidy in parental chromosomes that were not involved with a translocation and balanced in involved parental translocation chromosomes...
September 18, 2017: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/28916332/assessing-the-use-of-assisted-reproductive-technology-in-the-united-states-by-non-united-states-residents
#19
Aaron D Levine, Sheree L Boulet, Roberta M Berry, Denise J Jamieson, Hillary B Alberta-Sherer, Dmitry M Kissin
OBJECTIVE: To study cross-border reproductive care (CBRC) by assessing the frequency and nature of assisted reproductive technology (ART) care that non-U.S. residents receive in the United States. DESIGN: Retrospective study of ART cycles reported to the Centers for Disease Control and Prevention's National ART Surveillance System (NASS) from 2006 to 2013. SETTING: Private and academic ART clinics. PATIENT(S): Patients who participated in ART cycles in the United States from 2006 to 2013...
November 2017: Fertility and Sterility
https://www.readbyqxmd.com/read/28905883/acceptable-applications-of-preimplantation-genetic-diagnosis-pgd-among-israeli-pgd-users
#20
Shachar Zuckerman, David A Zeevi, Sigal Gooldin, Gheona Altarescu
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives...
October 2017: European Journal of Human Genetics: EJHG
keyword
keyword
3471
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"