Results 11 to 20 of about 22,286 (215)

Legal Regulation of Preimplantation Genetic Diagnosis: A Comparative Analysis of the Baltic Sea Region and the Nordic Countries

open access: yesTeisė, 2022
This paper examines the concept and regulation of some of the latest research in the field of fertility – preimplantation genetic diagnosis – in Lithuania, Poland, the Baltic States, and the Nordic countries.
Nastė Grubliauskienė
doaj   +1 more source

Seminal Fluid Metabolomic Markers of Oligozoospermic Infertility in Humans

open access: yesMetabolites, 2020
Infertility affects 12−15% of couples worldwide, and male factors are the cause of nearly half of all cases. Studying seminal fluid composition could lead to additional diagnostic accuracy and a better understanding of the pathophysiology of male ...
Federica Murgia   +9 more
doaj   +1 more source

Robust preimplantation genetic testing of the common F8 Inv22 pathogenic variant of severe hemophilia A using a highly polymorphic multi-marker panel encompassing the paracentric inversion

open access: yesThrombosis Journal, 2023
Background Hemophilia A (HEMA) is an X-linked bleeding disorder caused by reduced/absent coagulation factor VIII expression, as a result of pathogenic variants in the F8 gene. Preimplantation prevention of HEMA should ideally include direct pathogenic F8
Minh Tam Nguyen   +11 more
doaj   +1 more source

Can Time-Lapse Incubation and Monitoring Be Beneficial to Assisted Reproduction Technology Outcomes? A Randomized Controlled Trial Using Day 3 Double Embryo Transfer

open access: yesFrontiers in Physiology, 2022
Objective: To determine if the application of time-lapse incubation and monitoring can be beneficial to clinical outcomes in assisted reproductive technology.Methods: A total of 600 patients were equally randomized to three groups, namely, conventional ...
Yu-han Guo   +19 more
doaj   +1 more source

Genetic testing in Marfan syndrome [PDF]

open access: yes, 2016
Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring.
Aragon-Martin, JA, Child, AH, Sage, K
core   +1 more source

Which Factors Are Associated With Reproductive Outcomes of DOR Patients in ART Cycles: An Eight-Year Retrospective Study

open access: yesFrontiers in Endocrinology, 2022
IntroductionWomen with diminished ovarian reserve (DOR) have a lower pregnancy rate and higher cancellation rate compared to those without DOR when seeking assisted reproductive technology. However, which factors are associated with reproductive outcomes
Lu Li   +19 more
doaj   +1 more source

Evolution and utility of preimplantation genetic testing for monogenic disorders in assisted reproduction - A narrative review

open access: yesJournal of Human Reproductive Sciences, 2021
Preimplantation genetic testing (PGT) for monogenic disorders and assisted reproductive technology have evolved and progressed in tandem. PGT started with single-cell polymerase chain reaction (PCR) followed by fluorescent in situ hybridisation for a ...
Firuza R Parikh   +7 more
doaj   +1 more source

A ‘healthy baby’: The double imperative of preimplantation genetic diagnosis [PDF]

open access: yes, 2010
This is the author's accepted manuscript. The final published article is available from the link below. Copyright @ 2010 The Authors.This article reports from a study exploring the social processes, meanings and institutions that frame and produce ...
Casper, M.J.   +9 more
core   +1 more source

Multicolour interphase cytogenetics: 24 chromosome probes, 6 colours, 4 layers [PDF]

open access: yes, 2011
From the late 1980s onwards, the use of DNA probes to visualise sequences on individual chromosomes (fluorescent in-situ hybridisation - FISH) revolutionised the study of cytogenetics.
A.R. Thornhill   +61 more
core   +1 more source

Prevalência do uso de diagnóstico genético pré-Implantação na Unidade Clínica de Paramiloidose do Centro Hospitalar do Porto [PDF]

open access: yes, 2014
Introduction: The Familial Amyloid Polyneuropathy, with the world’s largest focus in Portugal, is recognized by the National Board of Assisted Reproductive Technologies as a serious disease eligible for Preimplantation Genetic Diagnosis.
Alves, E.   +3 more
core   +2 more sources

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