Results 51 to 60 of about 24,692 (232)

Supporting couples with polycystic kidney disease in a medically assisted reproduction process

open access: yesGiornale di Clinica Nefrologia e Dialisi
Preimplantation diagnosis process for couples with polycystic kidney disease involves several steps: genetic and gynecological counseling, in vitro fertilization (IVF/ICSI), embryo biopsy, genetic analysis, selection of healthy embryos and implantation.
Daniela Zuccarello   +4 more
doaj   +1 more source

Targeting myotonic dystrophy by preimplantation genetic diagnosis-karyomapping

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2019
Objective: To report a case with Myotonic dystrophy type I with successful preimplantation genetic diagnosis-karyomapping. Case report: A 34-year-old female carrier of myotonic dystrophy type I was treated at our clinic with a successful pregnancy after ...
Cheng-Wei Wang   +2 more
doaj   +1 more source

Preimplantation genetic diagnosis : evaluation of results and experiences [PDF]

open access: yes, 2015
Preimplantation genetic diagnosis (PGD) is an established alternative for couples at high risk of having an affected child, with the advantage that the genetic testing is performed at the embryo stage and the couple can thereby avoid a pregnancy ...
Haapaniemi Kouru, Katarina
core   +1 more source

Preimplantation Diagnosis of Thalassemias [PDF]

open access: yesJournal of Assisted Reproduction and Genetics, 1998
Preimplantation genetic diagnosis (PGD) is an important option for couples at risk of having children with beta-globin mutations to avoid selective abortions of affected fetuses following prenatal diagnosis.We performed PGD for thalassemia in 12 clinical cycles (IVS1-110, and IVS-745 mutations) using biopsy of the first and second polar bodies (PBs ...
A, Kuliev   +10 more
openaire   +2 more sources

The Expanding Role of Gene Sequencing in Shaping Fetal Therapies: Clinical and Ethical Considerations

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT In utero interventions are transformative in addressing genetic and anatomic conditions during fetal development. Next generation sequencing enables early genetic testing, playing a pivotal role in prenatal decision‐making by supporting risk stratification, precise and timely diagnosis, which directly informs eligibility for fetal surgical and
Matthew A. Shear   +7 more
wiley   +1 more source

New perspectives on preimplantation genetic diagnosis and preimplantation genetic screening

open access: yesTaiwanese Journal of Obstetrics & Gynecology, 2014
Preimplantation genetic diagnosis is a procedure that involves the removal of one or more nuclei from oocytes (a polar body) or embryos (blastomeres or trophectoderm cells) in order to test for problems in genome sequence or chromosomes of the embryo ...
Chun-Kai Chen   +3 more
doaj   +1 more source

PROBLEMS OF LEGAL REGULATION OF THE PROTECTION OF GENETIC INFORMATION OBTAINED BY METHODS OF PREIMPLANTATION AND PRENATAL GENETIC DIAGNOSIS, IN THE RUSSIAN FEDERATION

open access: yesПравовое государство: теория и практика, 2022
In the context of the active development of the areas defined by the Concept of Predictive, Preventive and Personalized Medicine, genodiagnostics, applied at the stage of family planning, is of particular importance.
AKHTYAMOVA Evgeniya Viktorovna   +2 more
doaj   +1 more source

Diagnostic Value of Exome Sequencing in Isolated Polyhydramnios

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. Methods This retrospective study included 40 cases of isolated polyhydramnios. All patients underwent screening for gestational diabetes mellitus (GDM) and chromosomal microarray analysis (CMA).
Vered Offen Glassner   +11 more
wiley   +1 more source

Chromosomal disorders and male infertility [PDF]

open access: yes, 2011
Infertility in humans is surprisingly common occurring in approximately 15% of the population wishing to start a family. Despite this, the molecular and genetic factors underlying the cause of infertility remain largely undiscovered.
Harton, Gary L.   +1 more
core   +1 more source

Advancing Extracellular Vesicle Research: A Review of Systems Biology and Multiomics Perspectives

open access: yesPROTEOMICS, EarlyView.
ABSTRACT Extracellular vesicles (EVs) are membrane‐bound vesicles secreted by various cell types into the extracellular space and play a role in intercellular communication. Their molecular cargo varies depending on the cell of origin and its functional state.
Gloria Kemunto   +2 more
wiley   +1 more source

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