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Preimplantation genetic diagnosis

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https://www.readbyqxmd.com/read/29331235/antim%C3%A3-llerian-hormone-as-a-predictor-of-live-birth-following-assisted-reproduction-an-analysis-of-85-062-fresh-and-thawed-cycles-from-the-society-for-assisted-reproductive-technology-clinic-outcome-reporting-system-database-for-2012-2013
#1
Reshef Tal, David B Seifer, Ethan Wantman, Valerie Baker, Oded Tal
OBJECTIVE: To determine if serum antimüllerian hormone (AMH) is associated with and/or predictive of live birth assisted reproductive technology (ART) outcomes. DESIGN: Retrospective analysis of Society for Assisted Reproductive Technology Clinic Outcome Reporting System database from 2012 to 2013. SETTING: Not applicable. PATIENT(S): A total of 69,336 (81.8%) fresh and 15,458 (18.2%) frozen embryo transfer (FET) cycles with AMH values...
January 11, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29325267/-analysis-of-clinical-outcomes-of-different-embryo-stage-biopsy-in-array-comparative-genomic-hybridization-based-preimplantation-genetic-diagnosis-and-screening
#2
J D Shen, W Wu, L Shu, L L Cai, J Z Xie, L Ma, X P Sun, Y G Cui, J Y Liu
Objective: To evaluate the efficiency of the application of array comparative genomic hybridization (array-CGH) in preimplantation genetic diagnosis or screening (PGD/PGS), and compare the clinical outcomes of different stage embryo biopsy. Methods: The outcomes of 381 PGD/PGS cycles referred in the First Affiliated Hospital of Nanjing Medical University from July 2011 to August 2015 were retrospectively analyzed. There were 320 PGD cycles with 156 cleavage-stage-biopsy cycles and 164 trophectoderm-biopsy cycles, 61 PGS cycles with 23 cleavage-stage-biopsy cycles and 38 trophectoderm-biopsy cycles...
December 25, 2017: Zhonghua Fu Chan Ke za Zhi
https://www.readbyqxmd.com/read/29317129/introduction-reproductive-genetics-bringing-clarity-to-a-foreign-language
#3
Anthony R Gregg, Steven R Lindheim
Genomic based technologies are firmly implanted into clinical medicine. They arrived rapidly and their uses continue to evolve in both the pre and postconception periods. These technologies migrated from the prenatal arena into the domain of the reproductive endocrinology and infertility specialists in some cases nearly simultaneously (expanded carrier screening), in others more slowly (chromosome microarrays), and for some technologies the ethical and cost concerns have resulted in a slower diffusion across the disciplines...
January 6, 2018: Fertility and Sterility
https://www.readbyqxmd.com/read/29315321/inner-cell-mass-incarceration-in-8-shaped-blastocysts-does-not-increase-monozygotic-twinning-in-preimplantation-genetic-diagnosis-and-screening-patients
#4
Yi-Fan Gu, Qin-Wei Zhou, Shuo-Ping Zhang, Chang-Fu Lu, Fei Gong, Yue-Qiu Tan, Guang-Xiu Lu, Ge Lin
BACKGROUND: The use of assisted reproductive technology (ART) has been reported to increase the incidence of monozygotic twinning (MZT) compared with the incidence following natural conception. It has been hypothesized that splitting of the inner cell mass (ICM) through a small zona hole may result in MZT. In this study, using a cohort of patients undergoing preimplantation genetic diagnosis/screening (PGD/PGS), we compared the clinical and neonatal outcomes of human 8-shaped blastocysts hatching with ICM incarceration with partially or fully hatched blastocysts, and attempted to verify whether this phenomenon increases the incidence of MZT pregnancy or negatively impact newborns...
2018: PloS One
https://www.readbyqxmd.com/read/29297236/cleavage-stage-embryo-micromanipulation-in-the-clinical-setting
#5
Iman Halvaei, Shahin Ghazali, Stefania A Nottola, Mohammad Ali Khalili
Embryo micromanipulation was developed after introduction of microinjection to overcome infertility. Embryo micromanipulation may be performed at any embryo stage from pronuclear to blastocyst. The technique started out as basic and turned out to be increasingly more complex. Embryo micromanipulation at the cleavage-stage includes a wide range of techniques, from opening the zona pellucida in order to improve the chance of implantation, to removing detrimental components from the embryo to enhance embryo development or blastomeres for preimplantation genetic diagnosis and embryo splitting...
January 3, 2018: Systems Biology in Reproductive Medicine
https://www.readbyqxmd.com/read/29280479/assisted-reproductive-technology-art-cumulative-live-birth-rates-following-preimplantation-genetic-diagnosis-for-aneuploidy-pgd-a-or-morphological-assessment-of-embryos-a-cohort-analysis
#6
Evelyn Lee, Georgina Mary Chambers, Lyndon Hale, Peter Illingworth, Leeanda Wilton
BACKGROUND: Preimplantation genetic diagnosis for aneuploidy (PGD-A) for all 24 chromosomes improves implantation and clinical pregnancy rates per single assisted reproductive technology (ART) cycle. However, there is limited data on the live-birth rate of PGD-A over repeated cycles. AIM: To assess the cumulative live-birth rates (CLBR) of PGD-A compared with morphological assessment of embryos of up to three 'complete ART cycles' (fresh plus frozen/thaw cycles) in women aged 37 years or older...
December 27, 2017: Australian & New Zealand Journal of Obstetrics & Gynaecology
https://www.readbyqxmd.com/read/29276169/prevalence-and-treatment-choices-for-couples-with-recurrent-pregnancy-loss-due-to-structural-chromosomal-anomalies
#7
Savanie Maithripala, Ursula Durland, Jon Havelock, Sonya Kashyap, Jason Hitkari, Justin Tan, Mahmoud Iews, Sarka Lisonkova, Mohamed A Bedaiwy
OBJECTIVE: Parental carriers of balanced structural chromosomal rearrangements such as reciprocal or Robertsonian translocations are at increased risk of recurrent pregnancy loss (RPL) due to the production of gametes with unbalanced non-viable chromosome variants. As a purported means of improving reproductive outcomes in this population, IVF and preimplantation genetic diagnosis (PGD) have been introduced as an alternative to natural conception and prenatal diagnosis. In this study, we evaluate the prevalence and treatment choices of couples with structural chromosomal rearrangement referred to a tertiary care RPL clinic...
December 21, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29274203/establishing-a-comprehensive-genetic-diagnosis-strategy-for-hemophilia-b-and-its-application-in-chinese-population
#8
X Y Lin, J Wang, X Xiao, Y W Xu, Q J Yan, W Y Jiang
INTRODUCTION: To reduce the incidence of hemophilia B (HB) which with no complete cure currently, prenatal diagnosis and preimplantation genetic diagnosis (PGD) are effective and feasible means. However, previous studies about genetic diagnosis in HB mostly just focused on the detection of patients and carriers. Here, we established a comprehensive genetic diagnosis strategy for HB and worked it out in Chinese population. The strategy includes the detection of patients and carriers, prenatal diagnosis, and PGD...
December 23, 2017: International Journal of Laboratory Hematology
https://www.readbyqxmd.com/read/29261177/reproductive-genetic-carrier-screening-for-cystic-fibrosis-fragile-x-syndrome-and-spinal-muscular-atrophy-in-australia-outcomes-of-12-000-tests
#9
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval, Vanessa Siva Kumar, Lisa Ward, Emily Caroline Allen, Sarah Valerie Collis, Shannon Cowie, David Francis, Martin B Delatycki, Eppie Mildred Yiu, R John Massie, Mark Domenic Pertile, Desirée du Sart, Damien Bruno, David J Amor
PurposeTo describe our experience of offering simultaneous genetic carrier screening for cystic fibrosis (CF), fragile X syndrome (FXS), and spinal muscular atrophy (SMA).MethodsCarrier screening is offered through general practice, obstetrics, fertility, and genetics settings before or in early pregnancy. Carriers are offered genetic counseling with prenatal/preimplantation genetic diagnosis available to those at increased risk.ResultsScreening of 12,000 individuals revealed 610 carriers (5.08%; 1 in 20): 342 CF, 35 FXS, 241 SMA (8 carriers of 2 conditions), approximately 88% of whom had no family history...
October 26, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29242113/professionals-knowledge-attitude-and-referral-behaviour-of-preimplantation-genetic-diagnosis-for-hereditary-breast-and-ovarian-cancer
#10
J J G Gietel-Habets, C E M de Die-Smulders, V C G Tjan-Heijnen, I A P Derks-Smeets, R van Golde, E Gomez-Garcia, L A D M van Osch
Hereditary breast and ovarian cancer caused by a BRCA1/2 mutation is the most frequent indication for preimplantation genetic diagnosis (PGD) in the Netherlands. The extent to which involved professionals are informed about this option, however, is unclear. The few available international studies mostly represent a limited range of professionals, and suggest that their knowledge about PGD for hereditary cancer syndromes is sparse and referral for PGD is based on limited understanding. A cross-sectional survey assessing awareness, knowledge, acceptability and PGD-referral for BRCA was completed by 188 professionals involved in the field of breast and ovarian cancer or reproduction...
December 6, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29224066/genome-wide-copy-number-alteration-detection-in-preimplantation-genetic-diagnosis
#11
Lieselot Deleye, Dieter De Coninck, Dieter Deforce, Filip Van Nieuwerburgh
Shallow whole genome sequencing has recently been introduced for genome-wide detection of chromosomal copy number alterations (CNAs) in preimplantation genetic diagnosis (PGD), using only 4-7 trophectoderm cells biopsied from day-5 embryos. This chapter describes the complete method, starting from whole genome amplification (WGA) on isolated blastomere(s), up to data analysis for CNA detection. The process is described generically and can also be used to perform CNA analysis on a limited number of cells (down to a single cell) in other applications...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29219278/clinical-features-of-carriers-of-reciprocal-chromosomal-translocations-involving-chromosome-2-report-of-nine-cases-and-review-of-the-literature
#12
Xinyue Zhang, Hongguo Zhang, Cong Hu, Ruixue Wang, Qi Xi, Ruizhi Liu
OBJECTIVE: To explore the clinical features of carriers of chromosome 2 translocations, enabling informed genetic counseling of these patients. MATERIALS AND METHODS: Eighty-two male carriers of a translocation who were infertile or receiving fertility counseling were recruited. Cytogenetic analyses were performed using G-banding. A search of PubMed was performed to determine whether the identified translocations on chromosome 2 are involved in male infertility...
December 11, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/29211946/a-rare-anos1-variant-in-siblings-with-kallmann-syndrome-identified-by-whole-exome-sequencing
#13
D M Lopategui, A J Griswold, H Arora, R I Clavijo, M Tekin, R Ramasamy
Kallmann syndrome is a rare genetic condition causing congenital hypogonadotropic hypogonadism. It presents with delayed puberty, anosmia, and infertility. Here, we set out to identify a causative DNA variant for Kallmann syndrome in two affected brothers of Hispanic ancestry. The male siblings presented with a clinical diagnosis of Kallmann syndrome (anosmia, delayed puberty, azoospermia, and undetectable luteinizing hormone and follicle stimulating hormone levels). Genetic variations were investigated by whole exome sequencing...
December 6, 2017: Andrology
https://www.readbyqxmd.com/read/29210259/preimplantation-genetic-diagnosis-the-situation-in-france-and-in-other-european-countries
#14
Anne-Marie Duguet, Bénédicte Boyer-Beviere
Preimplantation genetic diagnosis (PGD) relates exclusively to in vitro fertilisation techniques (IVF) that aim to prevent transmission of a serious genetic abnormality to the child. The genetic characteristics of the embryo created through IVF are analysed, and only the embryos free of the genetic abnormality are implanted in the womb. Performed worldwide since 1990, this technique has raised many legal and ethical debates due to the very wide variations of lawgiving between countries. This is shown by the report of the UNESCO IBC (2003), which described the techniques and the issues raised by preimplantation genetic diagnosis...
April 2017: European Journal of Health Law
https://www.readbyqxmd.com/read/29210255/the-legalisation-of-gamete-donation-in-italy
#15
Andrea Boggio
Since 2004, the regulation of assisted reproduction in Italy has undergone substantial reform as an effect of key judicial intervention. Limitations on embryo production, screening and transfer, the prohibition against engaging in preimplantation genetic diagnosis (PGD) and embryo selection, and the ban on gamete donation have all been removed by courts. In this article, I discuss how judicial intervention has improved the ability of Italian couples to access assisted reproduction technologies (ARTs), and how the expansion of reproductive rights is, however, still incomplete...
March 2017: European Journal of Health Law
https://www.readbyqxmd.com/read/29207007/fertility-preservation-in-women-harboring-deleterious-brca-mutations-ready-for-prime-time
#16
Fedro Alessandro Peccatori, Giorgia Mangili, Alice Bergamini, Francesca Filippi, Fabio Martinelli, Federica Ferrari, Stefania Noli, Emanuela Rabaiotti, Massimo Candiani, Edgardo Somigliana
Fertility issues have become critical in the management and counseling of BRCA mutation carriers. In this setting four points deserve consideration. (1) Women in general lose their ability to conceive at a mean age of 41 years, thus the suggested policy of prophylactic bilateral salpingo-oophorectomy at age 40 for BRCA mutation carriers does not affect the chances of natural pregnancy. Conversely, if the procedure is chosen at 35 years old, oocyte cryopreservation prior to surgery should be considered. (2) Some evidence suggests that ovarian reserve may actually be partly reduced in BRCA mutations carriers and that the mutation may affect ovarian responsiveness to stimulation...
December 1, 2017: Human Reproduction
https://www.readbyqxmd.com/read/29203382/thirteen-years-experience-of-893-pgd-cycles-for-monogenic-disorders-in-a-publicly-funded-nationally-regulated-regional-hospital-service
#17
Anne Girardet, Aliya Ishmukhametova, Victoria Viart, Stéphanie Plaza, Florielle Saguet, Garance Verriere, Samir Hamamah, Isabelle Coupier, Emmanuelle Haquet, Tal Anahory, Marjolaine Willems, Mireille Claustres
This study provides an overview of preimplantation genetic diagnosis (PGD) for single gene diseases and the management of expanding indications in the context of a fully financially covered service at Montpellier's regional hospital centre. Within the framework of a restrictive law ruling PGD in France, only the parental genetic risk can be studied in embryos (concurrent aneuploidy screening is not allowed). PCR-based techniques were developed combining mutation detection and closely linked short tandem repeat markers within or flanking the affected genes, and set up more than 100 different robust fluorescent multiplex assays for 61 monogenic disorders...
November 22, 2017: Reproductive Biomedicine Online
https://www.readbyqxmd.com/read/29187032/postmortem-diagnostic-exome-sequencing-identifies-a-de-novo-tubb3-alteration-in-a-newborn-with-prenatally-diagnosed-hydrocephalus-and-suspected-walker-warburg-syndrome
#18
Zöe Powis, Adam C Chamberlin, Christina L Alamillo, Sophia Ceulemans, Lynne M Bird, Sha Tang
Objective Herein, we report a case of a deceased newborn with prenatally detected hydrocephalus. Postnatal findings included abnormal brain imaging and electroencephalogram, optic nerve abnormalities, and elevated creatine kinase (CK). No underlying genetic etiology had been previously identified for the proband, despite testing with a congenital muscular dystrophy gene panel. Methods Diagnostic exome sequencing (DES) was performed on the proband-parents trio, and candidate alterations were confirmed using automated fluorescence dideoxy sequencing...
January 1, 2017: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29180129/genetic-diagnosis-of-epidermolysis-bullosa-recommendations-from-an-expert-spanish-research-group
#19
C Sánchez-Jimeno, M J Escámez, C Ayuso, M J Trujillo-Tiebas, M Del Río
Epidermolysis bullosa (EB) is a rare genetic disease that causes mucocutaneous fragility. It comprises a clinically and genetically heterogeneous group of disorder characterized by spontaneous or contact/friction-induced blistering. EB is classified into 4 types-simplex, junctional, dystrophic, and Kindler syndrome-and 30 subtypes. The disease is caused by defects in proteins implicated in dermal-epidermal adhesion. At least 19 genes have been characterized and more than 1000 mutations identified, thus rendering diagnosis complex...
November 24, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/29165686/optimal-timing-for-blastomere-biopsy-of-8-cell-embryos-for-preimplantation-genetic-diagnosis
#20
Y Kalma, L Bar-El, S Asaf-Tisser, M Malcov, A Reches, J Hasson, H Amir, F Azem, D Ben-Yosef
STUDY QUESTION: What is the optimal timing for blastomere biopsy during the 8-cell stage, at which embryos will have the best implantation potential? SUMMARY ANSWER: Fast-cleaving embryos that are biopsied during the last quarter (Q4) of the 8-cell stage and are less affected by the biopsy procedure, and their implantation potential is better than that of embryos biopsied earlier during the 8-cell stage (Q1-Q3). WHAT IS KNOWN ALREADY: Blastomer biopsy from cleavage-stage embryos is usually performed on the morning of Day 3 when the embryos are at the 6- to 8-cell stage and is still the preferred biopsy method for preimplantation genetic diagnosis (PGD) for monogentic disorders or chromosomal translocations...
November 20, 2017: Human Reproduction
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