Results 1 to 10 of about 12,612 (210)

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy [PDF]

open access: yesEinstein (São Paulo), 2017
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
Bianca Bianco   +3 more
doaj   +3 more sources

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   +4 more sources

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment [PDF]

open access: yesDiagnostics, 2021
Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI).
Hsin-Lin Chen   +10 more
doaj   +2 more sources

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   +2 more sources

What should we focus on before preimplantation genetic diagnosis/screening? [PDF]

open access: yesArchives of Medical Science, 2018
Introduction : Preimplantation genetic diagnosis/screening (PGD/PGS) can effectively detect chromosomal abnormalities in an embryo but only if an embryo is available. However, not all couples can obtain an embryo that is available for testing.
Zhong Zheng   +3 more
doaj   +2 more sources

Preimplantation genetic diagnosis

open access: yesZdravniški Vestnik, 2013
Backg round: Preimplantation genetic diagnosis (PGD) is used to analyze embryos before their transfer into uterus. It is suitable for a group of patients who are at a substantial risk of conceiving a pregnancy affected by a known genetic defect.
Karin Writzl
doaj   +1 more source

Metabolomics in Prenatal Medicine: A Review

open access: yesFrontiers in Medicine, 2021
Pregnancy is a complicated and insidious state with various aspects to consider, including the well-being of the mother and child. Developing better non-invasive tests that cover a broader range of disorders with lower false-positive rates is a ...
Giovanni Monni   +7 more
doaj   +1 more source

Metabolomics Analysis of Amniotic Fluid in Euploid Foetuses with Thickened Nuchal Translucency by Gas Chromatography-Mass Spectrometry

open access: yesLife, 2021
Persistence of a fetal thickened nuchal translucency (NT), one of the most sensitive and specific individual markers of fetal disorders, is strongly correlated with the possibility of a genetic syndrome, congenital infections, or other malformations ...
Federica Murgia   +7 more
doaj   +1 more source

Predictive Factors for Recovery Time in Conceived Women Suffering From Moderate to Severe Ovarian Hyperstimulation Syndrome

open access: yesFrontiers in Endocrinology, 2022
ObjectiveThis study aimed to evaluate potential predictors for recovery time in pregnant patients with moderate to severe ovarian hyperstimulation syndrome (OHSS).MethodsA total of 424 pregnant patients with moderate to severe OHSS who underwent in vitro
Kai Huang   +4 more
doaj   +1 more source

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

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