Preimplantation Genetic Diagnosis.pub
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چکیده
Preimplantation Genetic Diagnosis T he opportunity to exclude in-vitro derived embryos with documented genetic abnormalities before the initiation of pregnancy is an attractive means of preventing heritable genetic disease. Currently couples who are carriers of genetic disease have the option of undergoing chorionic villus sampling in the first trimester or amniocentesis in the second trimester to determine whether or not their fetus is affected. The advantage of accurately diagnosing these genetic abnormalities in the embryo obviates the 25% to 50% risk of transferring an affected embryo with the specific genetic abnormality in question. It has been more than a decade since the first reported pregnancies using preimplantation genetic diagnosis (PGD) were achieved, and as of April 2001, at least 500 babies have been born world-wide using these techniques. This document reviews the applications and techniques of PGD and the concerns about the safety and the accuracy of the technique.
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O-27: Preimplantation Genetic Diagnosis in Prevention of Genetic Diseases -Diagnostic of Spinal Muscular Atrophy (SMA)
Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...
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Preimplantation genetic diagnosis (PGD) is now considered routine in IVF laboratories with micromanipulation capability and access to genetic diagnostic services. The past two decades have witnessed a dramatic increase in the use of PGD, the number of cycles performed, and the indications for which PGD has been used. This increase has been mirrored by a slow, but steady, increase in the range o...
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Background: Origin of midlife copy number variations (CNVs) between tissues in non-genetic diseases is unknown. Such genomic differences caused by post-zygotic events. They might either happen during the life or due to prevalent mosaicism in preimplantation stage. We aim to explore fetal mosaicism and its origins. Materials and Methods: Two apparently normal fetuses were achieved following the ...
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